J. Opitz

Larissa V Furtado, J. Opitz, B. Shirts, 2011, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

A deletion 13q34/duplication 14q32.2–14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia

S. South, J. Opitz, John P. Johnson, 2011, American journal of medical genetics. Part A.

Studies of malformation syndromes of man XXXVIII: the BD syndrome

J. Opitz, G. Neuhäuser, E. Kaveggia, 1975, Zeitschrift für Kinderheilkunde.

Identification of a novel sequence element in the common promoter region of human collagen type IV genes, involved in the regulation of divergent transcription.

J. Opitz, K. Kühn, E. Pöschl, 1993, The Biochemical journal.

Invited editorial comment: Further reflections on gastroschisis

J. Opitz, T. Pysher, Theodore J. Pysher, 2008, American journal of medical genetics. Part C, Seminars in medical genetics.

CNS anomalies and the midline as a "developmental field".

J. Opitz, E. Gilbert, J. Opitz, 1982, American journal of medical genetics.

The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

J. Opitz, A. Schinzel, E. Gilbert, 1983, American journal of medical genetics.

Simpson‐golabi‐behmel syndrome: An X‐linked encephalo‐tropho‐schisis syndrome

J. Opitz, G. Neri, M. Cappa, 1988, American journal of medical genetics. Part A.

Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family.

J. Opitz, E. Gilbert, J. Herrmann, 1988, American journal of medical genetics.

The Golabi-Rosen syndrome--report of a second family.

J. Opitz, 1984, American journal of medical genetics.

International workshop on the fragile X and X‐linked mental retardation

J. Opitz, G. Sutherland, J. M. Opitz, 1984 .

Bilateral radial deficiency with lower limb involvement.

J. Opitz, J. Tröger, S. Spranger, 1996, American journal of medical genetics.

American Journal of Medical Genetics: Editorial

J. Opitz, J. Carey, 2001 .

Discovery of a connective tissue dysplasia in the Martin-Bell syndrome.

J. Opitz, A. Daniel, J. Westphal, 1984, American journal of medical genetics.

Second Pallister‐Opitz Genetics Symposium, Helena, Montana, July 2015

J. Opitz, Abdallah F Elias, Abdallah F. Elias, 2016, American journal of medical genetics. Part A.

Smith-Lemli-Opitz (RSH) syndrome bibliography: 1964-1993.

J. Opitz, V. Penchaszadeh, M. C. Holt, 1994, American journal of medical genetics.

Nosologic Grouping in Birth Defects

Jane A. Evans, J. Opitz, A. Czeizel, 1987 .

Studies of malformation syndromes of man XXIX: The Wiedemann-Beckwith syndrome

J. Opitz, M. Lubinsky, E. Gilbert, 1976, European Journal of Pediatrics.

Dysplasia, Malformations and Cancer, Especially with Respect to the Wiedemann-Beckwith Syndrome

J. Opitz, E. Gilbert, J. Herrmann, 1977 .

Cases of neurofibromatosis with rearrangements of chromosome 17 involving band 17q11.2

J. Opitz, G. Dewald, V. Michels, 1987 .

Analysis of etiologic factors in cerebral palsy with severe mental retardation

J. Opitz, G. Neuhäuser, E. Kaveggia, 1976, European Journal of Pediatrics.

The Montana Fetal Genetic Pathology Program and a review of prenatal death in humans.

J. Opitz, S. Lewin, J. F. Reynolds, 1987, American journal of medical genetics. Supplement.

Behavior of 10 patients with FG syndrome (Opitz–Kaveggia syndrome) and the p.R961W mutation in the MED12 gene

J. Opitz, R. Stevenson, C. Schwartz, 2008, American journal of medical genetics. Part A.

The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus.

J. Opitz, F. Stiles, R. Sanger, 1965, American journal of human genetics.

Conference report: International Workshop on the fragile X and X-linked mental retardation.

J. Opitz, G. Sutherland, J. M. Opitz, 1984, American journal of medical genetics.

On the gates of hell and a most unusual gene.

J. Opitz, J. M. Opitz, 1986, American journal of medical genetics.

Studies on the antigenic properties of prostatic tissue. I.

J. Opitz, R. Flocks, V. Urich, 1960, The Journal of urology.

Medical Genetic Studies in the Amish : Historical Perspective

J. Opitz, D. B. Amos, J. Christian, 2003 .

The power of stories in Pediatrics and Genetics

J. Opitz, L. Pavone, G. Corsello, 2016, Italian Journal of Pediatrics.

Embryo and Fetal Pathology: Color Atlas with Ultrasound Correlation

J. Opitz, E. Gilbert-Barness, D. Debich-Spicer, 2004 .

Meier-Gorlin syndrome genotype-phenotype studies

J. Al-Aama, J. Opitz, W. Reardon, 2016 .

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

J. Al-Aama, J. Opitz, W. Reardon, 2012, European Journal of Human Genetics.

Novel Connexin 43 (GJA1) mutation causes oculo–dento–digital dysplasia with curly hair

J. Opitz, N. Tommerup, H. Eiberg, 2004, American journal of medical genetics. Part A.

Second Annual Prader‐Willi Syndrome Scientific Conference

D. Ledbetter, J. Opitz, F. Greenberg, 1987 .

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

J. Opitz, K. Devriendt, S. Lenzner, 2003, Human Genetics.

Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature.

J. Opitz, M. Muenke, N. Robin, 1996, American journal of medical genetics.

A fifty-year-old man with skin pigmentation, arthritis, chronic renal failure and methemoglobinemia.

J. Opitz, F. Abreo, M. Katcher, 1983, American journal of medical genetics.

The Noonan syndrome.

J. Opitz, J. Opitz, 1985, American journal of medical genetics.

Brief historical note: the concept of "gonadal dysgenesis".

J. Opitz, P. Pallister, 1979, American journal of medical genetics.

Mental retardation, Robin sequence, and brachydactyly: Further confirmation of a new syndrome

J. Opitz, G. Scarano, G. Neri, 2004, American journal of medical genetics. Part A.

‘Crommelin-type’ symmetrical tetramelic reduction deformity: a new case and breakpoint mapping of a reported case with de-novo t(2;12)(p25.1;q23.3)

J. Opitz, D. Fitzpatrick, J. Fantes, 2010, Clinical dysmorphology.

Comments on some genetic abnormalities of sex determination and sex differentiation in Homo sapiens

J. Opitz, John M. Opitz, 1980, European Journal of Pediatrics.

Pseudovaginal perineoscrotal hypospadias

J. Opitz, J. Simpson, J. German, 1972, Clinical genetics.

International system for human gene nomenclature (1979) ISGN (1979).

N E Morton, T H Roderick, P J McAlpine, 1979, Cytogenetics and cell genetics.

International System for Human Gene Nomenclature (1979) ISGN (1979).

N E Morton, T H Roderick, P J McAlpine, 1980, Birth defects original article series.

“DOUBLE-MUSCLE” TRAIT IN CATTLE: A POSSIBLE MODEL FOR WIEDEMANN-BECKWITH SYNDROME

J. Opitz, E. Gilbert-Barness, D. Gerrard, 2006, Fetal and pediatric pathology.

An unusual dysplasia-malformation-cancer syndrome in two patients.

J. Opitz, E. Gilbert, D. Ganick, 1978, American journal of medical genetics.

Hypertrichosis lanuginosa in a mother and son

J. Opitz, N. Frejre‐Maia, J. Felizau, 1976, Clinical genetics.

Naming and nomenclature of syndromes.

J. Opitz, J. Herrmann, 1974, Birth defects original article series.

Noonan's syndrome. A case with elevated serum alkaline phosphatase levels and malignant schwannoma of the left forearm.

J. Opitz, M. Kaplan, F. Gosset, 1968, American journal of diseases of children.

The pathology of some malformations and hereditary diseases of the respiratory tract.

J. Opitz, E. Gilbert, 1976, Birth defects original article series.

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome.

J. Opitz, J. Carey, G. Neri, 1986, American journal of medical genetics.

Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers).

J. Opitz, K. Grzeschik, O. Miller, 1972, Proceedings of the National Academy of Sciences of the United States of America.

Fibular a/hypoplasia: review and documentation of the fibular developmental field.

J. Opitz, S. Lewin, 1986, American journal of medical genetics. Supplement.

Bibliography of X-linked mental retardation and related subjects. III. (1986).

J. Opitz, M. C. Holt, L. M. Spano, 1985, American journal of medical genetics.

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.

J. Opitz, M. Digilio, A. Giannotti, 2003, Birth defects research. Part A, Clinical and molecular teratology.

Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature

J. Opitz, H. Hoyme, J. Fryns, 1987, American journal of medical genetics.

Male‐to‐male transmission in Laurin–Sandrow syndrome and exclusion of RARB and RARG

J. Opitz, N. Tommerup, H. Eiberg, 2005, American journal of medical genetics. Part A.

Acrofacial dysostosis 1 , Nager type Author : Professor

J. Opitz, D. Lacombe, 2004 .

PRENATAL DEATH IN FRASER SYNDROME

J. Opitz, T. Pysher, J. Szakacs, 2005, Fetal and pediatric pathology.

Premutation in achondroplasia.

J. Opitz, 1988, Basic life sciences.

Syndromal (and nonsyndromal) forms of male pseudohermaphroditism.

J. Opitz, G. Neri, 1999, American journal of medical genetics.

Diagnostic/genetic studies in severe mental retardation.

J. Opitz, E. Kaveggia, E. Pendleton, 1978, Birth defects original article series.

Studies of malformation syndromes of man XXIV B: The Dubowitz syndrome. Further observations

J. Opitz, R. Pfeiffer, J. Hermann, 1973, Zeitschrift für Kinderheilkunde.

The Dubowitz syndrome

J. Opitz, J. Gorlin, R. Grosse, 2004, Zeitschrift für Kinderheilkunde.

Craniocervical Anomalies in Dubowitz Syndrome

J. Opitz, D. Resnick, K. Swartz, 2003, Pediatric Neurosurgery.

Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review.

J. Opitz, D. Resnick, K. Swartz, 2003, Pediatric neurosurgery.

Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.

J. Opitz, M. Tsukahara, Masato Tsukahara, 1996, American journal of medical genetics.

Juvenile GM1 gangliosidosis: Clinical, pathological, chemical and enzymatic studies

J. Opitz, M. Ho, B. Haneberg, 1972, Clinical genetics.

Associations and syndromes: terminology in clinical genetics and birth defects epidemiology: comments on Khoury, Moore, and Evans.

J. Opitz, J. Opitz, 1994, American journal of medical genetics.

Clinical aspects of dermatoglyphics.

J. Opitz, B. Schaumann, 1991, Birth defects original article series.

The trisomy 4p syndrome: case report and review.

J. Opitz, L. Meisner, B. R. Elejalde, 1977, American journal of medical genetics.

Clinicopathological conference: a 29-yr-old man with recurrent episodes of fever, abdominal pain, and vomiting.

J. Opitz, S. Updike, T. Oberley, 1984, American journal of medical genetics.

Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions.

J. Opitz, E. Gilbert-Barness, A. Lowichik, 2002, Pediatric pathology & molecular medicine.

RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations.

J. Opitz, J. Opitz, 1994, American journal of medical genetics.

Developmental abnormalities resulting in short umbilical cord.

J. Opitz, E. Gilbert-Barness, R. Drut, 1993, Birth defects original article series.

CHOLESTEROL AND DEVELOPMENT: THE RSH ("SMITH-LEMLI-OPITZ") SYNDROME AND RELATED CONDITIONS

J. Opitz, E. Gilbert-Barness, A. Lowichik, 2002 .

Polytopic anomalies with agenesis of the lower vertebral column.

E. Zackai, J. Opitz, S. Mundlos, 1999, American journal of medical genetics.

RSH (so-called Smith-Lemli-Opitz) syndrome.

J. Opitz, John M. Opitz, 1999, Current opinion in pediatrics.

Hereditary splenomegaly with hypersplenism

J. Opitz, N. Shahidi, L. Rao, 1974, Clinical genetics.

Studies of malformation syndromes in man XXXX: Multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son from XY/XXY father)

J. Opitz, G. Neuhäuser, 1975, Zeitschrift für Kinderheilkunde.

New autosomal dominant branchio‐oculo‐facial syndrome

J. Opitz, K. Jones, A. Fujimoto, 1987, American journal of medical genetics.

Gaucher disease: Accurate identification of asymptomatic French‐Canadian carrier using nonlabeled authentic sphingolipid substrate N‐palmitoyl dihydroglucocerebroside

J. Opitz, J. F. Reynolds, F. Choy, 1987, American journal of medical genetics.

Niemann-Pick Disease Type C

J. Opitz, J. Callahan, E. Gilbert, 1981, European Journal of Pediatrics.

Clinicopathological conference: One‐year‐old infant with hepatosplenomegaly and developmental delay

J. Opitz, L. Barness, G. Odell, 1987 .

A newly recognized syndromeof multiple congenital anomalies

J. Opitz, David W. Smith, L. Lemli, 1964 .

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

J. Opitz, D. W. Smith, L. Lemli, 1964, The Journal of pediatrics.

A 72‐year‐old Danish puzzle resolved—comparative analysis of phenotypes in families with different‐sized HOXD13 polyalanine expansions

J. Opitz, L. Skovgaard, N. Tommerup, 2005, American journal of medical genetics. Part A.

HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.

J. Opitz, N. Tommerup, C. Hansen, 2002, American journal of medical genetics.

Nonsalt-losing congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function.

J. Opitz, M. New, B. Dupont, 1983, The Journal of clinical endocrinology and metabolism.

The evaluation of infants with the Zellweger (cerebro‐hepato‐renal) syndrome *

J. Opitz, K. Gilchrist, E. Gilbert, 1975, Clinical genetics.

Audiometric evidence for two forms of X‐linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse

J. Opitz, A. Boneh, C. Scriver, 1987, American journal of medical genetics.

TRISOMY-20 SYNDROME IN MAN

J. Opitz, L. Meisner, S. Inhorn, 1976, The Lancet.

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark–Baraitser syndrome

J. Opitz, G. Neri, F. Gurrieri, 2005, Clinical dysmorphology.

Developmental field theory and the molecular analysis of morphogenesis: A comment on Dr. Slavkin's observations

S. Gilbert, J. Opitz, 1993 .

Genetic causes and workup of male and female infertility. 3. Details of the clinical evaluation.

J. Opitz, S. Shapiro, D. Uehling, 1979, Postgraduate medicine.

Bibliography on X-linked mental retardation, the fragile X, and related subjects V (1991).

J. Opitz, L. M. Spano, J. M. Opitz, 1988, American journal of medical genetics.

Evolution in the clinic: Maladaptive units and “minor anomalies”

J. Opitz, J. Carey, J. M. Opitz, 2022, American journal of medical genetics. Part A.

Malformation syndrome of duplication 12q24.1→qter

J. Opitz, L. Weiss, D. Dyke, 1981 .

Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.

A. Ballabio, J. Opitz, B. Wittwer, 1998, American journal of human genetics.

Phenotypic variability in Townes-Brocks syndrome.

J. Opitz, J. M. Pina-Neto, J. M. Opitz, 1984 .

Prenatal death in Smith–Lemli–Opitz/RSH syndrome

J. Opitz, J. Szakacs, J. Byrne, 2005, American journal of medical genetics. Part A.

The RSH/“Smith–Lemli–Opitz” Syndrome: Historical footnote

Larissa V Furtado, J. Opitz, Larissa V. Furtado, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Familial thrombocytopenia, elevated serum IgA levels and renal disease. A report of a kindred.

J. Opitz, E. Stiehm, J. Bloodworth, 1970, The American journal of medicine.

Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD conference.

J. Opitz, F. de la Cruz, J. M. Opitz, 1994, American journal of medical genetics.

I-cell disease: a clinical picture.

J. Opitz, J. Leroy, A. Crocker, 1971, The Journal of pediatrics.

Denys-Drash Syndrome with Neonatal Renal Failure in Monozygotic Twins Due to C.1097G>A Mutation in the WT1 Gene

Larissa V Furtado, J. Opitz, T. Pysher, 2011, Fetal and pediatric pathology.

Philip D. Pallister of Montana

J. Opitz, Abdallah F Elias, P. Mullen, 2018, American journal of medical genetics. Part A.

GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older.

J. Opitz, B. Mendonca, M. Sotto, 1990, American journal of medical genetics.

Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana.

J. Opitz, K. Morgan, T. M. Holmes, 1985, American journal of medical genetics.

The “Cat Eye syndrome”: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter→q11) associated with a characteristic phenotype

J. Opitz, R. Tenconi, J. Lindsten, 1981, Human Genetics.

Omenn disease: termination in lymphoma.

J. Opitz, E. Gilbert, R. Hong, 1985, Pediatric pathology.

Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel‐anatomical collections at the University of Halle, Germany

J. Opitz, Lennart Olsson, H. Tönnies, 2007, American journal of medical genetics. Part A.

The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.

J. Opitz, G. Neri, M. Martini-Neri, 1984 .

The Stickler syndrome (hereditary arthroophthalmopathy).

J. Opitz, T. France, J. Spranger, 1975, Birth defects original article series.

Remembered: F. Clarke Fraser

J. Opitz, 2015, American journal of medical genetics. Part A.

Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation

J. Opitz, E. Kaveggia, J. Opitz, 1974, Zeitschrift für Kinderheilkunde.

Rett syndrome bibliography II, 1987

J. Opitz, M. C. Holt, 1987, Brain and Development.

Rett syndrome bibliography.

J. Opitz, M. C. Holt, 1986, American journal of medical genetics. Supplement.

The dup(3q) syndrome: report of eight cases and review of the literature.

J. Opitz, L. Meisner, I. Hansmann, 1981, American journal of medical genetics.

Editorial comment on the papers by Hersh et al and Kaplan et al on sternal cleft

J. Opitz, John M. Opitz, 1985 .

Annals of morphology. Atavisms: Phylogenetic lazarus?

J. Opitz, G. Zanni, J. M. Opitz, 2013, American journal of medical genetics. Part A.

Terminological, diagnostic, nosological, and anatomical-developmental aspects of developmental defects in man.

J. Opitz, S. Colacino, E. Bersu, 1979, Advances in human genetics.

SEQUENTIAL FETUS-FETUS INTERACTION AND C.N.S. DEFECTS

J. Opitz, E. Kaveggia, M. Durkin, 1976, The Lancet.

Reflections on the pathogenesis of Down syndrome.

J. Opitz, E. Gilbert-Barness, 2005, American journal of medical genetics. Supplement.

[The campomelic syndrome].

J. Opitz, P. Maroteaux, J. Spranger, 1971, La Presse medicale.

Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome?

J. Opitz, R. Pauli, M. Williams, 2001, American journal of medical genetics.

SEGMENTATION ANOMALIES OF VERTEBRAE AND RIBS WITH OTHER ABNORMALITIES OF BLASTOGENESIS: SYNDROMES OR ASSOCIATIONS?

Holly Zhou, Archana Agarwal, Enid Gilbert-Barness, 2005, Fetal and pediatric pathology.

A severe infantile micromelic chondrodysplasia which resembles kniest disease

J. Opitz, Harold Chen, L. Langer, 1976, European Journal of Pediatrics.

Errors of morphogenesis: concepts and terms. Recommendations of an international working group.

J. Opitz, K. Benirschke, J. Hall, 1982, The Journal of pediatrics.

Historical perspective on developmental concepts and terminology

J. Opitz, G. Neri, J. M. Opitz, 2013, American journal of medical genetics. Part A.

Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia

J. Opitz, E. Gilbert-Barness, K. Kjaer, 2003, American journal of medical genetics. Part A.

Fetus‐in‐fetu form of monozygotic twinning with retroperitoneal teratoma

J. Opitz, E. Gilbert-Barness, D. Debich-Spicer, 2003, American journal of medical genetics. Part A.

Arno G. Motulsky, 1923–2018, Luck and Service

J. Opitz, J. M. Opitz, 2018, American journal of medical genetics. Part A.

Microcephaly: general considerations and aids to nosology.

J. Opitz, M. C. Holt, John M. Opitz, 1990, Journal of craniofacial genetics and developmental biology.

The Zellweger syndrome: Book review and bibliography. The cerebro‐hepato‐renal syndrome of Zellweger. L.C.P. Govaerts. Nijmegen: Stichting Studentenpers, 1984, 195 pp.

J. Opitz, 1985 .

The respiratory distress syndrome

J. Opitz, S. Graven, M. Harrison, 1966 .

Cutis marmorata telangiectatica congenita

J. Opitz, E. Gilbert, J. Herrmann, 1974, Journal of cutaneous pathology.

Heritable Malformations of the Kidney and Urinary Tract

J. Opitz, L. Barness, E. Gilbert-Barness, 1990 .

Arthro-dento-osteo dysplasia (Hajdu-Cheney syndrome)

J. Opitz, E. Gilbert, F. Zugibe, 1973, Zeitschrift für Kinderheilkunde.

Heterogeneity of Chondrodysplasia punctata

J. Opitz, J. Spranger, U. Bidder, 2004, Humangenetik.

Ectopia cordis and cleft sternum: evidence for mechanical teratogenesis following rupture of the chorion or yolk sac.

J. Opitz, D. Kurnit, E. Gilbert, 1985, American journal of medical genetics.

Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses.

J. Opitz, J. Haddow, G. Knight, 1999, American journal of medical genetics.

Elements of morphology: Standard terminology for the periorbital region

J. Opitz, J. Graham, S. Cassidy, 2009, American journal of medical genetics. Part A.

Multiple pterygium syndrome.

J. Opitz, H. Chen, H. Peters, 1980, American journal of medical genetics.

BRACHMANN/DE LANGE SYNDROME.

J. Opitz, A. Segal, R. Lehrke, 1964, Lancet.

ULLRICH-TURNER SYNDROME ASSOCIATED WITH CYSTIC MEDIAL NECROSIS OF THE AORTA AND GREAT VESSELS: CASE REPORT AND REVIEW OF THE LITERATURE.

J. Opitz, N. D. Kostich, N. Kostich, 1965, The American journal of medicine.

Pathogenetic analysis of certain developmental and genetic ectodermal defects.

J. Opitz, 1988, Birth defects original article series.

Cebocephaly‐holoprosencephaly in a newborn girl with a terminal 7q deletion [46,XX,del(7)(pter→q32:)]

S. Schwartz, J. Opitz, S. Panny, 1983 .

The dup(3)(p25 → pter) syndrome: A case with holoprosencephaly

J. Opitz, N. Martin, B. Steinberg, 1983 .

dup(4p 15→4pter) in a 19‐year‐old woman resulting from a maternal 4;14 translocation

J. Opitz, H. Cowell, A. Kalamchi, 1982 .

An infant with duplication of 17q21→17qter

J. Opitz, R. Bannerman, R. J. Wynn, 1981 .

Aplasia cutis congenita in two sibs discordant for pylori atresia

J. Opitz, R. Carmi, J. Bar-ziv, 1982 .

The nail-patella syndrome

J. Opitz, G. L. Lucas, C. Wiffler, 1966 .

Inherited lysosomal storage disease associated with deficiencies of β‐galactosidase and α‐neuraminidase in sheep

J. Opitz, S. Walkley, R. McCluer, 1988 .

Introduction to medical genetics. I.

J. Opitz, 1964, Journal. Iowa State Medical Society.

Clinical cytogenetics: part 2.

J. Opitz, B. R. Elejalde, 1978, Postgraduate medicine.

The neurofibromatosis-Noonan syndrome.

J. Opitz, D. Weaver, Weaver Dd, 1985, American journal of medical genetics.

Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

Tao Wang, Emil Alexov, Brent Weatherly, 2017, The Journal of Biological Chemistry.

Teratomas in children and young adults.

J. Opitz, E. Gilbert, D. Ganick, 1979, Medical and pediatric oncology.

Considerations of Sex Chromosome Abnormalities in Man

J. Opitz, G. Sarto, S. Inhorn, 1969 .

The XY Gonadal Agenesis Syndrome

J. Opitz, G. Sarto, J. M. Opitz, 1973, Journal of medical genetics.

Principles of genetics applied to medicine.

J. Opitz, B. R. Elejalde, 1977, Postgraduate medicine.

Eye findings in the 13 trisomy syndrome

James C. Allen, J. Opitz, Guillermo de Venecia, 1977, European Journal of Pediatrics.

Phenotypic mapping and clinical ideology.

J. Opitz, I. Lurie, 1995, American journal of medical genetics.

The Farber lecture. Prenatal and perinatal death: the future of developmental pathology.

J. Opitz, John M. Opitz, 1987, Pediatric pathology.

Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes.

J. Opitz, F. Halal, P. Pallister, 1983, American journal of medical genetics.

Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia.

J. Opitz, A. Schinzel, J. Ryan, 1980, American journal of medical genetics.

Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism.

J. Opitz, D. Rimoin, J. Zonana, 1977, Birth defects original article series.

An evolutionary and developmental biology approach to gastroschisis.

J. Opitz, L. Botto, M. Feldkamp, 2019, Birth defects research.

Developmental terms—some proposals: First report of an International working group

J. Opitz, K. Benirschke, R. Lowry, 1979 .

The cardiofaciocutaneous syndrome

J. Opitz, J. Allanson, G. Neri, 2006, Journal of Medical Genetics.

A case of partial (9p) trisomy in a family with a balanced translocation

J. Opitz, N. Freire‐Maia, N. A. Maia, 2022 .

NOR activity and centromere suppression related in a de novo fusion tdic(9;13)(p22;p13) chromosome in a child with del(9p) syndrome.

J. Opitz, A. Daniel, J. Fitzgerald, 1985, American journal of medical genetics.

Male pseudohermaphroditism, partial androgen receptors defect, 11p13 deletion: indication of gene localization

J. Opitz, C. Sultan, C. Francannet, 1986 .

Unusual combination of genetic defects in a Sicilian boy: Gγ Aγ δβ thalassemia, Gγ Aγ heterocellular HPFH, βº thalassemia, and albinism

J. Opitz, S. Musumeci, L. Pavone, 1983 .

Letter to the editor: Heterogeneity of β thalassemia

J. Opitz, G. Schilirò, J. F. Reynolds, 1986 .

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology

J. Opitz, K. Gilchrist, E. Gilbert, 1976, European Journal of Pediatrics.

Congenital and familial iron overload.

J. Opitz, N. Shahidi, L. Vitale, 1969, The New England journal of medicine.

α-Aminoadipic aciduria, a non-deleterious inborn metabolic defect

J. Opitz, T. Gerritsen, M. H. Fischer, 1974, Humangenetik.

Chondrodysplasia punctata — Rhizomelic form

J. Opitz, E. Gilbert, L. Langer, 1976, European Journal of Pediatrics.

Clinicopathologic conference: a three-month-old infant with failure to thrive, hepatomegaly, and neurological impairment.

J. Opitz, E. Gilbert, A. Friedman, 1980, American journal of medical genetics.

A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings.

J. Opitz, S. Inhorn, D. W. Smith, 1965, The Journal of pediatrics.

DEFECTS OF BLASTOGENESIS

J. Opitz, E. Gilbert-Barness, G. Zanni, 2002, American journal of medical genetics.

Kniest dysplasia: radiologic, histopathological, and scanning electronmicroscopic findings.

J. Opitz, R. Laxová, L. Langer, 1996, American journal of medical genetics.

Invited editorial comment: Study of minor anomalies in childhood malignancy

J. Opitz, 1985, European Journal of Pediatrics.

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

J. Opitz, C. Ricketts, F. Müller, 2012, Nature Genetics.

Phenotypes, pleiotropy, and phylogeny

J. Opitz, J. M. Opitz, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Hamartoma syndromes, exome sequencing, and a protean puzzle.

J. Opitz, L. Jorde, 2011, The New England journal of medicine.

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.

J. Opitz, D. Rimoin, Harold Chen, 1984, American journal of medical genetics.

Palcental pathology and prenatal diagnosis of infantile type of neuronal ceroid‐lipofuscinosis

J. Opitz, J. Rapola, J. F. Reynolds, 1988 .

Ceroid Lipofuscinoses (Batten Disease 81 Allied Disorders)

J. Opitz, R. Pullarkat, 1988 .

Errors of morphogenesis and developmental field theory.

J. Opitz, J. Frías, M. Martínez‐Frías, 1998, American journal of medical genetics.

Blastogenesis and the "primary field" in human development.

J. Opitz, J M Opitz, 1993, Birth defects original article series.

A lethal multiple pterygium syndrome with apparent X‐linked recessive inheritance

J. Opitz, J. F. Reynolds, A. Patrick, 1987, American journal of medical genetics.

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Nine V.A.M. Knoers, Pierre Sarda, Jumana Y. Al-Aama, 2011, Nature Genetics.

The pathologist's perspective of genetic disease. Malformations and dysmorphology.

J. Opitz, L. Barness, E. Gilbert-Barness, 1989, Pediatric clinics of North America.

Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism.

J. Opitz, E. Magenis, M. Webb, 1999, American journal of medical genetics.

Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies.

J. Opitz, E. Gilbert-Barness, M. Cohen, 2001, American journal of medical genetics.

Editorial comment on the paper by de la Monte and Hutchins on familial polyasplenia

J. Opitz, 1985 .

G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome)--perspective in 1987 and bibliography.

J. Opitz, J. Reynolds, J. M. Opitz, 1987, American journal of medical genetics.

Selected midline defect associations: a population study.

J. Opitz, M. Khoury, J. Cordero, 1989, Pediatrics.

Editorial comment on the paper by Crowe and Dickerman: On congenital lymphedema

J. Opitz, 1986 .

Pericentric inversion of chromosome 14 and the risk of partial duplication of 14q (14q31 leads to 14qter).

J. Opitz, C. Trunca, J. M. Opitz, 1977, American journal of medical genetics.

The short umbilical cord.

J. Opitz, R. Laxová, E. Gilbert, 1987, Birth defects original article series.

ADAM “sequence” part II: Hypothesis and speculation

J. Opitz, E. Gilbert-Barness, Dennis R. Johnson, 2015, American journal of medical genetics. Part A.

The DiGeorge anomaly as a developmental field defect.

J. Opitz, E. Lammer, J. Reynolds, 1986, American journal of medical genetics. Supplement.

Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.

J. Opitz, G. Cimino, M. Caltabiano, 1993, American journal of medical genetics.

Further comments on the lissencephaly syndromes.

J. Opitz, W. Dobyns, E. Gilbert, 1985, American journal of medical genetics.

To the Editor: Concerning Rajagopal MD et al.

J. Opitz, 2016, Fetal and pediatric pathology.

Comments on biological asymmetry.

J. Opitz, A. Utkus, J. Opitz, 2001, American journal of medical genetics.

Asplenia in two father-son pairs.

J. Opitz, N. Lindor, V. Michels, 1995, American journal of medical genetics.

Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissue.

S. South, J. Opitz, J. Schiffman, 2013, The Journal of molecular diagnostics : JMD.

Duplication 6q24 6qter in an infant from a balanced paternal translocation

J. Opitz, T. Chase, S. Jalal, 1983 .

The pallister mosaic syndrome.

J. Opitz, U. Francke, L. Meisner, 1977, Birth defects original article series.

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome

J. Opitz, D. Brunoni, M. Zollino, 2003, European Journal of Human Genetics.

Santos syndrome is caused by mutation in the WNT7A gene

J. Opitz, S. Ezquina, P. Otto, 2017, Journal of Human Genetics.

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

George J. Feldman, Andrea Ballabio, Maximilian Muenke, 1997, Nature Genetics.

Annals of morphology fields and prepatterns. Editorial Festschrift for John C. Carey, MD, MPH

J. Opitz, J. M. Opitz, 2016, American journal of medical genetics. Part A.

Early recognition of the Coffin-Lowry syndrome

J. Opitz, W. Wilson, T. Kelly, 1981 .

Complete absence or deficiency of one half of the body.

J. Opitz, E. Gilbert-Barness, A. Carranza, 1998, American journal of medical genetics.

An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei.

J. Opitz, J. Spranger, W. Osebold, 1985, American journal of medical genetics.

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

J. Opitz, B. Cormand, G. Neri, 2018, Scientific Reports.

2011 William Allan Award: development and evolution.

J. Opitz, J. M. Opitz, 2012, American journal of human genetics.

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

J. Opitz, C. Spaich, S. Braddock, 1999, American journal of medical genetics.

Studies of malformation syndromes of man XL VII: Disappearance of spermatogonia in the fanconi anemia syndrome

J. Opitz, E. Gilbert, N. Shahidi, 1977, European Journal of Pediatrics.

Biochemical defect of non-keratan sulfate excreting Morquio syndrome

J. Opitz, A. Fujimoto, A. Horwitz, 1983 .

The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies.

J. Opitz, P. Pallister, J. Herrmann, 1975, Birth defects original article series.

Elements of morphology: General terms for congenital anomalies

J. Opitz, R. Hennekam, L. Biesecker, 2013, American journal of medical genetics. Part A.

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

J. Opitz, R. Stevenson, C. Schwartz, 2007, Nature Genetics.

Facial midline defect in the fetal alcohol syndrome: embryogenetic considerations in two clinical cases.

C. Romano, J. Opitz, G. Neri, 1988, American journal of medical genetics.

Embryo and Fetal Pathology: The Human Embryo and Embryonic Growth Disorganization

J. Opitz, E. Gilbert-Barness, D. Debich-Spicer, 2004 .

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array‐CGH) defines a new locus (FGS5) for FG syndrome

J. Opitz, M. Passos-Bueno, F. Jehee, 2005, American journal of medical genetics. Part A.

An Xq 22 . 3 Duplication Detected by Comparative Genomic Hybridization Microarray ( Array-CGH ) Defines a New Locus ( FGS 5 ) for FG Syndrome

J. Opitz, M. Passos-Bueno, F. Jehee, 2005 .

FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].

J. Opitz, M. Pembrey, C. Moraine, 2002, American journal of medical genetics.

Unilateral Sclerocornea and Tracheal Stenosis: Unusual Findings in a Patient with Goldenhar Anomaly

Larissa V Furtado, J. Opitz, D. Viskochil, 2011, Fetal and pediatric pathology.

Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism

J. Opitz, N. Rose, A. Lowichik, 2010, American journal of medical genetics. Part A.

Two children with de novo del(9p)

J. Opitz, S. Kaler, M. E. Hodes, 1983 .

Clinical variability of partial duplication 1q: A clinical report and literature review

J. Opitz, R. Carmi, D. Abeliovich, 1987, American journal of medical genetics.

Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies.

J. Opitz, L. Meisner, E. Gilbert, 1984, American journal of medical genetics.

Comment by Raoul C. M. Hennekam on the letter to the editor by Flannery

J. Opitz, R. Hennekam, 1989 .

Reply to Dr. Flannery

J. Opitz, J. Spranger, 1989 .

A new familial intrauterine growth retardation syndrome the “3-M syndrome”

J. Opitz, J. Spranger, A. Nourmand, 1976, European Journal of Pediatrics.

Neonatal pneumoperitoneum and Hirschsprung's disease.

J. Opitz, R. Soper, 1962, Surgery.

Vaginal atresia (von Mayer-Rokitansky-Küster or MRK anomaly) in hereditary renal adysplasia (HRA).

J. Opitz, 1987, American journal of medical genetics.

The Wiedemann-Beckwith syndrome: genetic considerations and a diagnostic sign.

J. Opitz, J. Herrmann, A. L. Kosseff, 1972, Lancet.

The CFC syndrome—report of the first two cases outside the United States

J. Opitz, E. Bertini, M. Genuardi, 1987, American journal of medical genetics.

Delayed Mutation as a Cause of Genetic Disease in Man: Achondroplasia and the Wiedemann-Beckwith Syndrome

J. Opitz, J. Herrmann, J. Opitz, 1977 .

Letter: Autosomal-dominant sex-dependent transmission of the Wiedemann-Beckwith syndrome.

J. Opitz, M. Lubinsky, J. Herrmann, 1974, Lancet.

Familial hemophagocytic lymphohistiocytosis: report of four cases in two families and review of the literature.

J. Opitz, S. Wester, G. ZuRhein, 1985, Pediatric pathology.

Documentation of anomalies not previously described in Fryns syndrome

J. Opitz, E. Gilbert-Barness, S. R. Arnold, 2003, American journal of medical genetics. Part A.

Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.

S Schwartz, S. Schwartz, J. Opitz, 1997, American journal of medical genetics.

Studies of malformation syndromes of man XXXIX: A craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: “Craniofacial dyssynostosis”

J. Opitz, G. Neuhäuser, E. Kaveggia, 1976, European Journal of Pediatrics.

Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies

J. Opitz, E. Gilbert, R. Hodach, 2004, Zeitschrift für Kinderheilkunde.

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects

J. Opitz, P. Otto, Z. Graciani, 2008, American journal of medical genetics. Part A.

Rett syndrome—a review and discussion of syndrome delineation and syndrome definition

J. Opitz, S. Lewin, 1987, Brain and Development.

Preamble to the workshop on rett syndrome

H. Moser, J. Opitz, J. F. Reynolds, 1986 .

Dominant inheritance of nose pits

J. Opitz, F. Halal, M. Desgranges, 1982 .

Annals of morphology THEODOR BOVERI (1862–1915) To commemorate the centenary of his death and contributions to the Sutton–Boveri hypothesis

J. Opitz, 2016 .

A woman with multiple congenital anomalies, mental retardation and mosaicism for an unusual translocation chromosome t (6;19)

J. Opitz, S. Inhorn, K. Patau, 1974, Clinical genetics.

Duplication 18q syndrome

J. Opitz, A. Milunsky, T. Bustos, 1983 .

Meinhard Robinow: an appreciation.

J. Opitz, S. Garn, T. Kelly, 1995, American journal of medical genetics.

Reply to Drs. Meinecke and Wiedemann

J. Opitz, M. Robinow, J. Apesos, 1987 .

Developmental field theory and observations--accidental progress?

J. Opitz, 1986, American journal of medical genetics. Supplement.

Robin sequence and oligodactyly in mother and son—probably a further example of the postaxial acrofacial dysostosis syndrome

J. Opitz, P. Meinecke, H. Wiedemann, 1987, American journal of medical genetics.

STICKLER SYNDROME

J. Opitz, C. Francomano, T. France, 2010 .

Genetics and the Interaction of Blood Clotting Factors.

J. Opitz, 1966 .

Perinatal mortality due to interaction of diphenhydramine and temazepam.

J. Opitz, E. Gilbert, H. Bruyere, 1985, The New England journal of medicine.

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

T. Walsh, M. King, J. Opitz, 2011, Proceedings of the National Academy of Sciences.

The G syndrome.

J. Opitz, J. R. Little, 1971, American journal of diseases of children.

Two peculiar types of enchondromatosis

J. Opitz, J. Spranger, H. Kemperdieck, 1978, Pediatric Radiology.

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

T. Walsh, M. King, J. Opitz, 2010, American journal of human genetics.

Sensorineural deafness in the FG syndrome: report on four new cases.

J. Opitz, G. Neri, B. Blumberg, 1984, American journal of medical genetics.

Autosomal recessive syndrome of pseudogliomatous blindness, osteoporosis and mild mental retardation

J. Opitz, E. Kaveggia, G. Neuhauser, 1976, Clinical genetics.

Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome?

J. Opitz, J. F. Reynolds, J. Fitzgerald, 1989, American journal of medical genetics.

Lethal forms of chondrodysplastic dwarfism.

J. Opitz, J. P. Curran, B. Sigmon, 1974, Pediatrics.

Generalized lymphangiectasis associated with chylothorax; a possible dysplasia of the lymphatic system

J. Opitz, E. Gilbert, J. Herrmann, 2004, Zeitschrift für Kinderheilkunde.

The developmental field concept.

J. Opitz, J. Reynolds, J. M. Opitz, 1985, American journal of medical genetics.

Fanconi anemia: Another disease of unusually high prevalence in the Afrikaans population of South africa

J. Opitz, T. Jenkins, T. Jenkins, 1987, American journal of medical genetics.

Familial bilateral renal agenesis and hereditary renal adysplasia

J. Opitz, G. Sarto, C. Viseskul, 1973, Zeitschrift für Kinderheilkunde.

The developmental analysis of human congenital anomalies.

J. Opitz, J. Opitz, 1982, Progress in clinical and biological research.

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency

Mark Yandell, Jinchuan Xing, Leslie G Biesecker, 2011, Genome Biology.

The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia.

J. Opitz, R. Schilling, N. Shahidi, 1977, Birth defects original article series.

A familial MCA/MR syndrome due to translocation t(10;16) (q26;p13.1): report of six cases.

J. Opitz, A. Daniel, M. Bofinger, 1991, American journal of medical genetics.

Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly.

J. Opitz, R. Barth, G. Schauer, 1999, American journal of medical genetics.

Autosomal dominant and sporadic radio-ulnar synostosis.

J. Opitz, G. Neri, R. Rizzo, 1997, American journal of medical genetics.

Twenty-seven-year follow-up in the Wolf-Hirschhorn syndrome.

J. Opitz, 1995, American journal of medical genetics.

Further delineation of the C (trigonocephaly) syndrome.

J. Opitz, R. Gorlin, E. McPherson, 1981, American journal of medical genetics.

Interstitial deletion of the long arm of chromosome 3: Case report, review, and definition of a phenotype

J. Opitz, M. Bocian, J. F. Reynolds, 1987, American journal of medical genetics.

FG syndrome update 1988: note of 5 new patients and bibliography.

J. Opitz, P. Benke, J. Aase, 1988, American journal of medical genetics.

Letter: Twinning and illegitimacy in C.N.S. defects.

J. Opitz, E. Kaveggia, M. Durkin, 1974, Lancet.

Invited editorial comment: The nosology of the Smith-Lemli-Opitz syndrome

J. Opitz, V. Penchaszadeh, J. F. Reynolds, 1987 .

Smith-Lemli-Opitz (RSH) syndrome bibliography.

J. Opitz, V. Penchaszadeh, M. C. Holt, 1987, American journal of medical genetics.

Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al.

J. Opitz, R. Lowry, 1987, American journal of medical genetics.

An X-linked recessive basal ganglia disorder with mental retardation.

J. Opitz, R. Laxová, K. Hecox, 1985, American journal of medical genetics.

Recommendations of an International Working Group

J. Opitz, K. Benirschke, J. Spranger, 1982 .

Wolf-Hirschhorn syndrome (WHS): a history in pictures.

A. Battaglia, J. Opitz, J. Carey, 2000, Clinical dysmorphology.

Interview: Personal account of the discovery of a new disease using next-generation sequencing

J. Opitz, C. Huff, Barry Moore, 2011 .

Heterogeneity and minor anomalies.

J. Opitz, J. Opitz, 2000, American journal of medical genetics.

Reply to Dr. Pitt

J. Opitz, J. F. Reynolds, R. Maclean, 1986 .

A new autosomal dominant acrofacial dysostosis syndrome.

J. Opitz, R. Gorlin, J. F. Reynolds, 1986, American journal of medical genetics. Supplement.

Ulnar ray a/hypoplasia: evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families.

J. Opitz, A. Richieri‐Costa, J. M. Opitz, 1986, American journal of medical genetics. Supplement.

Response to the first Meckel oration by Sewall Wright.

J. Opitz, J. M. Opitz, 1984, American journal of medical genetics.

Brief clinical report: unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonomacrocephaly with a note on "developmental resistance".

J. Opitz, H. Wiedemann, 1983, American journal of medical genetics.

Hydrolethalus syndrome: Report of an apparent mild case, literature review, and differential diagnosis

J. Opitz, S. Cassidy, J. F. Reynolds, 1987, American journal of medical genetics.

The developmental field concept in clinical genetics.

J. Opitz, John M. Opitz, 1982, The Journal of pediatrics.

Brachmann-de Lange syndrome. A continuing enigma.

J. Opitz, 1994, Archives of pediatrics & adolescent medicine.

Why is the construction: Hypoplastic left heart “syndrome” a misnomer? And: What is a syndrome, anyhow?

J. Opitz, J. Carey, J. M. Opitz, 2011, American journal of medical genetics. Part A.

A novel germline PIGA mutation in Ferro‐Cerebro‐Cutaneous syndrome: A neurodegenerative X‐linked epileptic encephalopathy with systemic iron‐overload

Emily M. Coonrod, J. Opitz, J. Carey, 2014, American journal of medical genetics. Part A.

Genitourinary anomalies of pediatric FG syndrome.

J. Opitz, P. Cartwright, James F. Smith, 2007, The Journal of urology.

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome

C. Romano, J. Opitz, M. Pembrey, 2003, European Journal of Human Genetics.

Syndromal foramina parietalia permagna: "new" or FG syndrome? Comments on the paper by Chrzanowska et al [1998].

J. Opitz, A. Rauch, D. Walker, 1998, American journal of medical genetics.

Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family.

J. Opitz, B. Blumberg, E. Gilbert, 1982, American journal of medical genetics.

Genetic causes and workup of male and female infertility. 2. Abnormalities presenting between birth and adult life.

J. Opitz, S. Shapiro, D. Uehling, 1979, Postgraduate medicine.

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf–Hirschhorn syndrome

J. Opitz, M. Rocchi, G. Neri, 2004, European Journal of Human Genetics.

Brief clinical report: a further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation

J. Opitz, D. Donnai, J. F. Reynolds, 1986 .

Chromosome 3q duplication and the Brachmann-De Lange syndrome (BDLS).

J. Opitz, U. Francke, 1979, The Journal of pediatrics.

Curry-Hall syndrome

J. Opitz, S. Shapiro, R. Jorgenson, 1984 .

Osteogenesis imperfects type III: An ancient mutation in Africa?

J. Opitz, P. Beighton, D. Viljoen, 1987, American journal of medical genetics.

Fatal CNS dysgenesis with severe microencephaly, mental retardation, seizures and paucity of myelin, autosomal recessive trait?

J. Opitz, G. ZuRhein, G. Neuhäuser, 1977, European Journal of Pediatrics.

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

J. Opitz, K. Devriendt, H. Firth, 2005, American journal of medical genetics. Part A.

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

R. Weksberg, J. Opitz, J. Allanson, 1995, Nature Genetics.

Studies of malformation syndromes VID: The G syndrome. Further observations

J. Opitz, E. Gilbert, J. Herrmann, 1974, Zeitschrift für Kinderheilkunde.

I-Cell disease, mucolipidosis II

J. Opitz, E. Gilbert, G. Dawson, 1973, Zeitschrift für Kinderheilkunde.

Embryo and Fetal Pathology: Acknowledgments

J. Opitz, E. Gilbert-Barness, D. Debich-Spicer, 2004 .

Generalized gangliosidosis type II (Juvenile GM1 gangliosidosis)

J. Opitz, J. Varakis, G. ZuRhein, 1975, Zeitschrift für Kinderheilkunde.

Some comments on penetrance and related subjects.

J. Opitz, J. M. Opitz, 1981, American journal of medical genetics.

Geleophysic dwarfism--a "focal" mucopolysaccharidosis?

J. Opitz, E. Gilbert, J. Spranger, 1971, Lancet.

Brachymesomelia-renal syndrome.

J. Opitz, H. Togari, E. Gilbert, 1983, American journal of medical genetics.

Encomium and dedication: Angelo Serra--four decades in human and medical genetics.

J. Opitz, G. Neri, 2005, American journal of medical genetics. Supplement.

FAMILIAL JUVENILE NEPHRONOPHTHISIS. AN UNRECOGNIZED RENAL DISEASE IN THE UNITED STATES.

J. Opitz, C. Lobeck, J. Mangos, 1964, Pediatrics.

THE BENIGN PROXIMAL SPINAL PROGRESSIVE MUSCULAR ATROPHIES 1

J. Opitz, H. Peters, H. Reese, 1968, Acta neurologica Scandinavica.

A biologic and genetic study of 40 cases of severe pure mental retardation

J. Opitz, E. Kaveggia, E. Pendleton, 1977, European Journal of Pediatrics.

Genetic causes and workup of male and female infertility. 1. Prenatal reproductive loss.

J. Opitz, S. Shapiro, D. Uehling, 1979, Postgraduate medicine.

Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome

J. Opitz, E. Gilbert, J. Pettersen, 1976, European Journal of Pediatrics.

Clinicopathologic conference: a six-month-old infant with sudden onset of metabolic acidosis and shock.

J. Opitz, W. Segar, M. Katcher, 1982, American journal of medical genetics.

Categorization of common arterial trunk.

J. Opitz, Lance K. Erickson, J. Opitz, 2011, The Journal of thoracic and cardiovascular surgery.

Heart development: an introduction.

J. Opitz, E. Clark, E. B. Clark, 2000, American journal of medical genetics.

Neurologic and Psychometric Findings in the Brachmann-De Lange Syndrome

J. Opitz, A. Barr, J. Grabow, 1971, Neuropadiatrie.

Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism *

J. Opitz, G. Neuhäuser, J. M. Opitz, 1975, Clinical genetics.

Virilism as a late manifestation in the Bardet-Biedl syndrome.

J. Opitz, S. Shapiro, L. Karp, 1980, American journal of medical genetics.

The FG Syndrome from a Pathological Perspective

J. Opitz, T. Pysher, G. Neri, 2011, Fetal and pediatric pathology.

RESTRICTIVE DERMOPATHY: REPORT AND REVIEW

J. Opitz, E. Gilbert-Barness, P. Khanna, 2008, Fetal and pediatric pathology.

Meckel on developmental pathology

J. Opitz, L. Göbbel, R. Schultka, 2006, American journal of medical genetics. Part A.

REVIEW Resynthesizing Evolutionary and Developmental Biology

R. Raff, S. Gilbert, J. Opitz, 1996 .

American journal of medical genetics. Part B, Neuropsychiatric genetics

John M Opitz, J. Opitz, 2003 .

Meier-Gorlin syndrome: report of eight additional cases and review.

J. Opitz, E. Bongers, R. Hennekam, 2001, American journal of medical genetics.

MENDEL: Morphologist and Mathematician Founder of Genetics – To Begin a Celebration of the 2015 Sesquicentennial of Mendel's Presentation in 1865 of his Versuche über Pflanzenhybriden

J. Opitz, D. Bianchi, J. M. Opitz, 2015, Molecular genetics & genomic medicine.

Congenital effects of bromism?

J. Opitz, B. Haneberg, F. Grosse, 1972, Lancet.

PROBABLE SECOND FETUS WITH MARLES-CHUDLEY SYNDROME: CARDIAC CALCIFICATIONS WITH ULNAR DEFICIENCY AND ABSENT/HYPOPLASTIC THUMBS

J. Opitz, A. Kennedy, J. Szakacs, 2004, Fetal and pediatric pathology.

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

Ocular anomalies in malformation syndromes.

J. Opitz, J. Opitz, 1972, Transactions - American Academy of Ophthalmology and Otolaryngology. American Academy of Ophthalmology and Otolaryngology.

A case of Kabuki (Niikawa‐Kuroki) syndrome associated with manifestations resembling C‐trigonocephaly syndrome

D. Sillence, J. Opitz, R. Hardwick, 2004, American journal of medical genetics. Part A.

The syndromes of Sotos and Weaver: reports and review.

J. Opitz, D. Weaver, J. F. Reynolds, 1998, American journal of medical genetics.

A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21–23→1q25

J. Opitz, R. Hillman, K. Taysi, 1982 .

Clinicopathological conference: an adolescent girl with severe mental impairment and mucopolysacchariduria.

J. Opitz, L. Langer, M. Haust, 1985, American journal of medical genetics.

The clinical spectrum of a-L-iduronidase deficiency

J. Opitz, J. F. Reynolds, J. Spranger, 1985 .

Apparent allelism of the Hurler, Scheie, and Hurler/Scheie syndromes.

J. Opitz, T. Shows, O. Mueller, 1984, American journal of medical genetics.

Transient cysts of the fetal choroid plexus: Morphology and histogenesis

F. Bieber, J. Opitz, A. Farhood, 1987, American journal of medical genetics.

Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited

J. Opitz, T. France, G. Neuhäuser, 1975, Zeitschrift für Kinderheilkunde.

Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency.

J. Opitz, H. H. Gelderen, 1982 .

Annular pancreas in mother and son

J. Opitz, I. Young, U. Macfadyen, 1987, American journal of medical genetics.

Perrault syndrome: Evidence for progressive nervous system involvement

J. Opitz, A. Toscano, L. Pavone, 2004, American journal of medical genetics. Part A.

Noonan's syndrome in the male

J. Opitz, R. Summitt, David W. Smith, 1965 .

Abstracts of meeting presentations (Part 3 of 11)

A. Chapelle, J. Opitz, N. Morton, 1979 .

Studies of malformation syndromes of man VB: The hypertelorism-hypospadias (BBB) syndrome

J. Opitz, J. Herrmann, C. Gonzalez, 1977, European Journal of Pediatrics.

Variation in neuronal storage in α‐L‐iduronidase deficiency

J. Opitz, E. Wassman, J. F. Reynolds, 1985 .

Genetics in Neurology

J. Opitz, 1985 .

Lethal Osteogenesis Imperfecta–Like Condition with Cutis Laxa and Arterial Tortuosity in MZ Twins Due to a Homozygous Fibulin-4 Mutation

J. Opitz, Holly Zhou, Lance K. Erickson, 2012, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Dominant inheritance of acromial skin dimples

J. Opitz, F. Halal, 1980 .

"Unstable premutation" in achondroplasia: penetrance vs phenotrance.

J. Opitz, 1984, American journal of medical genetics.

Craniosynostosis in the Amish

J. Opitz, H. Cross, J. M. Opitz, 1969 .

Familial spastic paraplegia with distal muscle wasting in the Old Order Amish; atypical Troyer syndrome or “new” syndrome *

J. Opitz, G. Neuhäuser, C. Wiffler, 1976, Clinical genetics.

Follow-up on a human X-autosome translocation first studied in 1963 and 1964.

J. Opitz, R. Demars, S. Inhorn, 1978, Birth defects original article series.

Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome.

J. Opitz, E. Gilbert-Barness, M. Cohen, 2000, American journal of medical genetics.

Rett syndrome: some comments on terminology and diagnosis.

J. Opitz, 1986, American journal of medical genetics. Supplement.

The Perlman syndrome: clinical and biological aspects.

J. Opitz, G. Neri, M. Martini-Neri, 1985, Progress in clinical and biological research.

The Poland syndrome-clinical and genealogical data, dermatoglyphic analysis, and incidence.

J. Opitz, A. Freire-Maia, N. Freire‐Maia, 1973, Human heredity.

Sixty years of X-linked mental retardation: a historical footnote.

J. Opitz, G. Neri, 2000, American journal of medical genetics.

THE CORNELIA DE LANGE SYNDROME.

J. Opitz, L. Ptáček, T. Gerritsen, 1963, The Journal of pediatrics.

Studies of Malformation Syndromes XXVA

J. Opitz, M. Motl, 1971 .

Studies of malformation syndromes XXVA. Phenotypic and genetic studies of the Brachmann-de Lange Syndrome.

J. Opitz, M. Motl, 1971, Human heredity.

Developmental and other pathologic changes in syndromes caused by chromosome abnormalities.

J. Opitz, E. Gilbert, J. M. Opitz, 1982, Perspectives in pediatric pathology.

Y‐derived sequences detected in a 45,X male by in situ hybridization

J. Opitz, R. Magenis, J. F. Reynolds, 1987, American journal of medical genetics.

Phenotypic effects of inherited balanced translocation.

J. Opitz, L. Chunyun, Z. Ying, 1982, American journal of medical genetics.

A fetus with upper limb amelia, “caudal regression” and Dandy-Walker defect with an insulin-depedent diabetic mother

J. Opitz, E. Gilbert, L. Langer, 1980, European Journal of Pediatrics.

Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.

J. Opitz, G. Cimino, D. Mazzone, 1995, American journal of medical genetics.

Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect.

J. Opitz, M. Genuardi, G. Neri, 1995, American journal of medical genetics.

Interstitial deletion 2q31→q33

J. Opitz, P. Buchanan, R. Rhodes, 1983 .

Development: Clinical and evolutionary considerations

J. Opitz, J. M. Opitz, 2007, American journal of medical genetics. Part A.

Brief cytogenetic case report: A 4.5‐year‐old girl with deletion 4q syndrome — de novo, 46,XX, del(4) (pter→q31:)

J. Opitz, D. Weaver, M. E. Hodes, 1982 .

A partial trisomy 5p syndrome.

J. Opitz, K. Patau, 1975, Birth defects original article series.

An (X;14) translocation, unbalanced, 47 chromosomes. Repository identification No. GM-74.

J. Opitz, F. Ruddle, P. Pallister, 1973, Cytogenetics and cell genetics.

X-linked mental retardation

J. Opitz, G. Turner, 1982, Psychological Medicine.

Letters to the Editor

J. Opitz, U. Mittwoch, J. Orient, 2009, Public Health Nutrition.

Tetraectrodactyly and other skeletal manifestations in the fetal alcohol syndrome

J. Opitz, P. Pallister, J. Herrmann, 1980, European Journal of Pediatrics.

Anatomic studies in the 18-trisomy syndrome.

J. Opitz, L. Freedman, J M Opitz, 1970, Birth defects original article series.

On congenital lymphedema.

J. Opitz, 1986, American journal of medical genetics.

X‐linked hydrocephalus

J. Opitz, P. Willems, O. Brouwer, 1987, American journal of medical genetics.

Defect of cerebellar Purkinje cell histogenesis associated with type I and type II renal cystic disease

J. Opitz, S. Kornguth, E. Gilbert, 1977, Acta Neuropathologica.

Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges

J. Opitz, A. Poznanski, K. Unni, 1998 .

Arthrodentoosteodysplasia: a genetic "acroosteolysis" syndrome.

J. Opitz, E. Gilbert, F. Zugibe, 1974, Birth defects original article series.

Letter to the editor: Are there “innocent” amniotic bands?

J. Opitz, Z. Papp, J. F. Reynolds, 1986 .

James V. Neel

J. Opitz, 1999 .

Deletion (13) (q14.1q14.3) in two generations: Variability of ocular manifestations and definition of the phenotype

J. Opitz, P. Campochiaro, R. Sparkes, 1987 .

Essential tremor, nystagmus and duodenal ulceration: A “new” dominantly inherited condition *

J. Opitz, R. Donaldson, R. Daly, 1976, Clinical genetics.

Heterogeneity of nonlethal severe short-limbed dwarfism.

J. Opitz, D. Rimoin, J. Zonana, 1977, The Journal of pediatrics.

Remembered: Elisabeth G. Kaveggia

J. Opitz, W. Adkins, 2015, American journal of medical genetics. Part A.

Severe short-limb dwarfism resembling Grebe chondrodysplasia

J. Opitz, S. Al‐Awadi, A. Teebi, 1986, Human Genetics.

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

J. Opitz, B. Cormand, J. Hecht, 2017, Scientific Reports.

New, autosomal dominant form of ectodermal dysplasia

J. Opitz, R. Laxová, G. Tuffli, 1983 .

Hypertelorism and hypospadias, a newly recognized hereditary malformation syndrome

J. Opitz, R. Summitt, David W. Smith, 1965 .

Familial Kallmann syndrome with unilateral renal aplasia

J. Opitz, E. Gordon, D. Uehling, 1975, Clinical genetics.

Jacqueline A. Noonan

J. Opitz, 2020, American journal of medical genetics. Part A.

Conjoined twins: Morphogenesis of the heart and a review

J. Opitz, E. Gilbert-Barness, D. Debich-Spicer, 2003, American journal of medical genetics. Part A.

Smith-Lemli-Opitz syndrome in Japan.

J. Opitz, A. Honda, G. Tint, 1998, American journal of medical genetics.

The developmental field concept in pediatric pathology--especially with respect to fibular a/hypoplasia and the DiGeorge anomaly.

J. Opitz, S. Lewin, 1987, Birth defects original article series.

Cotterman and combinatorial genetics.

J. Opitz, 1983, American journal of medical genetics.

Disequilibrium syndrome in Montana Hutterites.

J. Opitz, P. Pallister, 1985, American journal of medical genetics.

Introduction—A Pallister Jubilee

I. Krantz, J. Opitz, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

X‐linked congenital ataxia: A new locus maps to Xq25‐q27.1

J. Opitz, E. Bertini, J. Chelly, 2008, American journal of medical genetics. Part A.

The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness.

J. Opitz, P. Pallister, 1979, American journal of medical genetics.

X-linked mental retardation 2.

J. Opitz, J. F. Reynolds, L. M. Spano, 1986, American journal of medical genetics.

Response to Kessler: Suicide and presymptomatic testing in Huntington disease

J. Opitz, L. Farrer, J. M. Opitz, 1987 .

History and general overview

J. Opitz, A. Rett, J. F. Reynolds, 1986 .

ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY'S DISEASE).

J. Opitz, R. R. Kierland, G. Vongemmingen, 1965, Archives of dermatology.

Letter to the editor: Familial omphalocele and recurrence risk

J. Opitz, I. Lurie, H. Ilyina, 1984 .

The developmental field concept genetics in clinical

J. Opitz, 1982 .

The SC phocomelia and the Roberts syndrome: Nosologic aspects

J. Opitz, J. Herrmann, J. Opitz, 1977, European Journal of Pediatrics.

Studies of malformation syndromes of man XXXXIA: anatomical studies in the Hanhart syndrome —A pathogenetic hypothesis

J. Opitz, E. Bersu, J. C. Pettersen, 1976, European Journal of Pediatrics.

Splenogonadal fusion‐limb defect “syndrome” and associated malformations

J. Opitz, E. Gilbert-Barness, J. Frías, 2003, American journal of medical genetics. Part A.

Human anotocephaly (aprosopus, acrania-synotia) in the Vilnius anatomical collection.

J. Opitz, V. Kučinskas, J. Beckwith, 2001, American journal of medical genetics.

Letter to the Editors

J. Opitz, 1980 .

XK‐aprosencephaly and related entities

J. Opitz, L. Chessa, A. Kennedy, 2005, American journal of medical genetics. Part A.

Research Review XK-Aprosencephaly and Related Entities

J. Opitz, L. Chessa, A. Kennedy, 2005 .

Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases.

J. Opitz, B. Burton, S. Holgado, 1994, American journal of medical genetics.

Perrault syndrome in sisters.

J. Opitz, D. Mccarthy, 1985, American journal of medical genetics.

Renal failure with hypercalcemia, renal stones, multiple pathologic fractures, and growth failure.

J. Opitz, R. Chesney, E. Gilbert, 1983, American journal of medical genetics.

Two Populations of Erythrocytes Associated with XX/XY Mosaicism

J. Opitz, T. Greenwalt, R. Race, 1965, Transfusion.

Limb anomalies from evolutionary, developmental, and genetic perspectives.

J. Opitz, 1996, Birth defects original article series.

Development and malformation

J. Opitz, 2002 .

Miller-Dieker syndrome

J. Opitz, K. Jones, E. Gilbert, 2020, Definitions.

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome.

J. Opitz, G. Neri, M. Cappa, 1988, American journal of medical genetics.

Fetal Hydrops and Cystic Hygroma

J. Opitz, E. Gilbert-Barness, D. Debich-Spicer, 2004 .

The Genée‐Wiedemann syndrome, an acrofacial dysostosis—further observation

J. Opitz, J. F. Reynolds, G. Stickler, 1987, American journal of medical genetics.

Two sporadic cases of amelia/phocomelia with similar phenotype: rare and unusually symmetrical form of FFU dysostosis or separate entity?

J. Opitz, Léo-Paul Dana, J. Fitzgerald, 1986, American journal of medical genetics. Supplement.

The Nager syndrome

J. Opitz, J. Hecht, L. Immken, 1987, American journal of medical genetics.

Nager “syndrome” versus “anomaly” and its nosology with the postaxial acrofacial dysostosis syndrome of Genée and Wiedemann

J. Opitz, J. F. Reynolds, J. Reynolds, 1987 .

Study of a child with an "idiopathic" malformation/mental retardation syndrome.

J. Opitz, F. A. Marçallo, R. F. Pilotto, 1975, Birth defects original article series.

The Rett syndrome.

J. Opitz, J. F. Reynolds, L. M. Spano, 1986, American journal of medical genetics. Supplement.

Pathogenesis of Sirenomelia with Anencephaly and Other Midline Defects† 364

J. Opitz, E. Gilbert-Barness, T. Pysher, 1998, Pediatric Research.

The rett syndrome bibliography III, 1989

J. Opitz, M. C. Holt, Claire E. Hull, 1990, Brain and Development.

Sudden infant death “syndrome”—Insights and future directions from a Utah population database analysis

H. Coon, J. Opitz, D. Adams, 2017, American journal of medical genetics. Part A.

Persistent genetic isolation in outport Newfoundland

J. Opitz, J. F. Reynolds, W. Marshall, 1987, American journal of medical genetics.

Transitory hypogammaglobulinemia of infancy in FG syndrome

J. Opitz, P. Palma, G. Neri, 2005, American journal of medical genetics. Part A.

Premature Closure of the Foramen Ovale Secondary to Congenital Aortic Valvular Stenosis in a Stillborn

Larissa V Furtado, J. Opitz, Lance K. Erickson, 2012, Fetal and pediatric pathology.

Wrinkly skin syndrome: Phenotype and additional manifestations

J. Opitz, S. Wesson, J. F. Reynolds, 1987, American journal of medical genetics.

The risk of having a second retarded child

J. Opitz, L. Weller, H. Costeff, 1987, American journal of medical genetics.

The Johanson-Blizzard syndrome: case report and autopsy findings.

J. Opitz, C. Kaye, J. Frías, 1979, American journal of medical genetics.

X-linked aqueductal stenosis: clinical and neuropathological findings in two families.

J. Opitz, L. Holmes, G. ZuRhein, 1973, Pediatrics.

X-linked hydrocephalus. Further observations

J. Opitz, E. Gilbert, C. Viseskul, 2004, Zeitschrift für Kinderheilkunde.

Bibliography on X-linked mental retardation and related subjects II (1985).

J. Opitz, M. C. Holt, L. M. Spano, 1985, American journal of medical genetics.

Hans-Rudolf Wiedemann: an appreciation.

J. Opitz, P. Mullen, 1992, American journal of medical genetics.

Absence of spermatogonia in the Prader-Willi syndrome

J. Opitz, M. Katcher, E. Gilbert, 1977, European Journal of Pediatrics.

Letter: Parana hard-skin syndrome: study of seven families.

J. Opitz, L. Marinoni, N. Magdalena, 1974, Lancet.

Pseudoaminopterin syndrome and trisomy 9

J. Opitz, D. Stevenson, J. King, 2004, American journal of medical genetics. Part A.

X-linked mental retardation. Study of a large kindred with 20 affected members

J. Opitz, H. Kløve, C. Mathews, 1965 .

Abstracts of meeting presentations (Part 5 of 11)

A. Chapelle, J. Opitz, N. Morton, 1979 .

CFC syndrome

J. Opitz, G. Neri, M. Zollino, 2003, American journal of medical genetics. Part A.

Reply from Dr. Shprintzen

J. Opitz, R. Shprintzen, 1987 .

Genetic counseling -- the postcounseling period: II. Making reproductive choices.

J. Opitz, F. Fraser, A. Lippman‐Hand, 1979, American journal of medical genetics.

The use of measured genotype information in the analysis of quantitative phenotypes in man. II. The role of the apolipoprotein E polymorphism in determining levels, variability, and covariability of cholesterol, betalipoprotein, and triglycerides in a sample of unrelated individuals.

E. Boerwinkle, C. Sing, J. Opitz, 1987, American journal of medical genetics.

Letter to the editor: Hemoglobin C disorders in whites

J. Opitz, G. Schilirò, M. Romeo, 1986 .

From DNA to Diversity: Molecular Genetics and the Evolution of Animal Design, by S.B. Carroll, J.K. Grenier, and S.D. Weatherbee

J. Opitz, 2003 .

Inheritance of Bartter syndrome.

J. Opitz, J. V. Wersch, R. Pereira, 1983 .

Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6.

J. Opitz, L. Treiman, A. Delgado-Escueta, 1988, American journal of medical genetics.

Juvenile hyaline fibromatosis: two new patients and review of the literature.

J. Opitz, V. D. Der Kaloustian, J. F. Reynolds, 1987, American journal of medical genetics.

Diagnostic criteria for Walker-Warburg syndrome.

L B Holmes, F Greenberg, J. Opitz, 1989, American journal of medical genetics.

The neurofaciodigitorenal (NFDR) syndrome.

J. Opitz, M. Pinheiro, N. Freire‐Maia, 1982, American journal of medical genetics.

The Perlman Syndrome : Familial Renal Dysplasia with Wilms Tumor , Fetal Gigantism and Multiple Congenital Anomalies

J. Opitz, G. Neri, M. Martini-Neri, 2013 .

Investigation on genetic heterogeneity in Duchenne muscular dystrophy.

J. Opitz, M. Zatz, J. F. Reynolds, 1986, American journal of medical genetics.

Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.

J. Opitz, D. Weaver, J. F. Reynolds, 1986, American journal of medical genetics.

Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome.

J. Opitz, R. Hoffman, D. Creel, 1999, American journal of medical genetics.

The birth prevalence of malformation syndromes in Tokyo infants: a survey of 14,430 newborn infants.

J. Opitz, M. Higurashi, N. Watanabe, 1980, American journal of medical genetics.

Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases.

J. Opitz, J. Carey, S. Gollin, 1987, American journal of medical genetics.

Nerve deafness, optic nerve atrophy, and dementia: A new X‐linked recessive syndrome?

J. Opitz, Peter K. A. Genes, 1981 .

The cardiofaciocutaneous syndrome

J. Opitz, J. Allanson, A. Roberts, 2006, Journal of Medical Genetics.

Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?

J. Opitz, M. Piccione, G. Corsello, 1996, American journal of medical genetics.

Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance.

J. Opitz, B. Hall, A. Delorimier, 1983, American journal of medical genetics.

The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks.

J. Opitz, M. Edgerton, P. Janků, 1980, American journal of medical genetics.

The American Journal of Medical Genetics—forward

J. Opitz, J. M. Opitz, 1977 .

Hemifacial microsomia and variants: pedigree data.

J. Opitz, C. Kaye, B. Rollnick, 1983, American journal of medical genetics.

Genetics of tethered cord “syndrome” The FG syndrome

J. Opitz, 2005, American journal of medical genetics. Part A.

Potter's pathology of the fetus, infant, and child

J. Opitz, 2015 .

Congenital eventration of the diaphragm: an unusual cause of intractable neonatal respiratory distress with variable etiology.

J. Opitz, J. Fryns, P. Moerman, 1987, American journal of medical genetics.

The Meckel syndrome: clinicopathological findings in 67 patients.

J. Opitz, R. Salonen, J. F. Reynolds, 1984, American journal of medical genetics.

DEVELOPMENTAL MIXOPLOIDY AND TRISOMY-20 SYNDROME

J. Opitz, L. Meisner, S. Inhorn, 1976, The Lancet.

Trisomy 18 with Cantrell pentalogy in a stillborn infant.

J. Opitz, J. F. Reynolds, J. Fox, 1988, American journal of medical genetics.

Dubowitz syndrome: review of 141 cases including 36 previously unreported patients.

J. Opitz, M. Tsukahara, 1996, American journal of medical genetics.

Kindler syndrome in two related Kurdish families.

J. Opitz, J. F. Reynolds, A. Garfunkel, 1985, American journal of medical genetics.

The Dubowitz syndrome.

J. Opitz, R. Summitt, R. S. Wilroy, 1978, American journal of medical genetics.

Embryo and Fetal Pathology: Fetal Autopsy

J. Opitz, E. Gilbert-Barness, K. B. Porter, 2004 .

Interstitial deletion of (17)(p11.2p11.2) in nine patients.

J. Opitz, J. Reiss, L. Mcgavran, 1986, American journal of medical genetics.

Teratogenicity of anticonvulsant drugs.

J. Opitz, J. Cordero, E. Lammer, 1985, American journal of medical genetics.

Obesity in achondroplasia.

J. Opitz, B. Bernhardt, J. Hecht, 1988, American journal of medical genetics.

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

S. Latt, J. Opitz, J. Graham, 1989, American journal of medical genetics.

Is Angelman syndrome an alternate result of del(15)(q11q13)?

D. Ledbetter, J. Opitz, S. Lafranchi, 1987, American journal of medical genetics.

Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

S. Latt, J. Opitz, T. Donlon, 1987, American journal of medical genetics.

A 15 → 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11)

J. Opitz, R. Sparkes, I. Klisak, 1982 .

An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome.

J. Opitz, M. Butler, F. Meaney, 1987, American journal of medical genetics.

Developmental screening tests in achondroplastic children.

J. Opitz, J. Leeper, A. Todorov, 1981, American journal of medical genetics.

Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome.

J. Opitz, M. Bialer, M. Lesser, 1987, American journal of medical genetics.

Bleeding diathesis in Noonan syndrome: a common association.

J. Opitz, J. Allanson, A. Zipursky, 1988, American journal of medical genetics.

Noonan syndrome: the changing phenotype.

Judith G. Hall, J. Opitz, J. Allanson, 1985, American journal of medical genetics.

Therapeutic modification of membrane lipid abnormalities in juvenile neuronal ceroid-lipofuscinosis (Batten disease).

J. Opitz, M. Bennett, G. Thompson, 1988, American journal of medical genetics. Supplement.

Experience over 17 years with antioxidant treatment in Spielmeyer-Sjögren disease.

J. Opitz, K. Sainio, T. Westermarck, 1988, American journal of medical genetics. Supplement.

Male excess among anatomically normal fetuses in spontaneous abortions.

D. Warburton, J. Opitz, J. Byrne, 1987, American journal of medical genetics.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

J. Opitz, Y. Fukushima, N. Niikawa, 1988, American journal of medical genetics.

Familial pericentric inversion of chromosome 8.

J. Opitz, D. Peakman, A. Robinson, 1981, American journal of medical genetics.

Autosomal dominant inheritance of the Aarskog syndrome.

J. Opitz, F. Farrington, R. Grier, 1983, American journal of medical genetics.

The Perlman familial nephroblastomatosis syndrome.

J. Opitz, A. Beaudet, V. Riccardi, 1986, American journal of medical genetics.

Rhesus sensitization after midtrimester genetic amniocentesis.

J. Opitz, J. Wladimiroff, H. Brandenburg, 1989, American journal of medical genetics.

On genetic screening of donors for artificial insemination.

J. Opitz, R. A. Forse, F. Fraser, 1981, American journal of medical genetics.

Anomalies associated with cleft lip, cleft palate, or both.

J. Opitz, R. Shprintzen, R. Goldberg, 1985, American journal of medical genetics.

The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review.

J. Opitz, A. Rogol, B. White, 1983, American journal of medical genetics.

Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.

J. Opitz, E. Lieber, A. Heimler, 1986, American journal of medical genetics.

The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.

J. Opitz, V. Penchaszadeh, S. Arias, 1980, American journal of medical genetics.

The frequency and economic burden of genetic disease in a pediatric hospital in Mexico City.

J. Opitz, A. Carnevale, A. Carnevale, 1985, American journal of medical genetics.

The frequency and financial burden of genetic disease in a pediatric hospital.

J. Opitz, J. Hall, E. Powers, 1978, American journal of medical genetics.

An analysis of autism in fifty males with the fragile X syndrome.

J. Opitz, R. Hagerman, B. Rimland, 1986, American journal of medical genetics.

Ultrastructural studies as a method of prenatal diagnosis of neuronal ceroid-lipofuscinosis.

J. Opitz, S. Nag, S. Nag, 1988, American journal of medical genetics. Supplement.

The Meckel syndrome in Finland: epidemiologic and genetic aspects.

J. Opitz, R. Salonen, R. Norio, 1984, American journal of medical genetics.

International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986.

D. Sillence, J. Opitz, P. Beighton, 1988, American journal of medical genetics.

Dolichol and dolichyl phosphate in the neuronal ceroid-lipofuscinoses and other diseases.

J. Opitz, S. Gauthier, J. Palo, 1988, American journal of medical genetics. Supplement.

Duchenne muscular dystrophy in a girl with a 45,X/46,XX/47,XXX chromosome constitution.

J. Opitz, M. Zatz, A. Vianna-Morgante, 1986, American journal of medical genetics.

Pathologic changes of osteochondrodysplasia in infancy. A review.

J. Opitz, E. Gilbert, K. Heidelberger, 1987, Pathology annual.

Posterior shoulder girdle abnormalities with absence of pectoralis major muscle.

J. Opitz, H. R. Hegde, H. R. Hegde, 1982, American journal of medical genetics.

Living history biography: An afterthought

J. Opitz, 2021, American journal of medical genetics. Part A.

Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence.

J. Opitz, B. Hagberg, I. Witt‐Engerström, 1986, American journal of medical genetics. Supplement.

Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance.

J. Opitz, F. Glorieux, C. Scriver, 1977, American journal of medical genetics.

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

J. Opitz, B. Cormand, G. Neri, 2018, Scientific Reports.

Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder.

J. Opitz, E. Seemanová, J. Houštěk, 1985, American journal of medical genetics.

The Rett syndrome: genetics and the future.

J. Opitz, V. Riccardi, J. Reynolds, 1986, American journal of medical genetics. Supplement.

American journal of medical genetics. Part B, Neuropsychiatric genetics

J. Opitz, J. M. Opitz, 2003 .

Rett syndrome: genetic clues based on mitochondrial changes in muscle.

J. Opitz, A. Teebi, O. Eeg‐Olofsson, 1989, American journal of medical genetics.

Lip pits and deletion 1q32----41.

J. Opitz, A. Walker, M. Bocian, 1987, American journal of medical genetics.

Hepatic involvement in the Bardet-Biedl syndrome.

A. H. Bunt, J. Opitz, R. Pagon, 1982, American journal of medical genetics.

Complex de novo rearrangement involving four chromosomes and ten break points with interstitial deletions and duplication.

J. Opitz, O. Rennert, J. Himes, 1988, American journal of medical genetics.

Complex chromosome rearrangements and congenital anomalies.

J. Opitz, A. Weiss, B. Kousseff, 1987, American journal of medical genetics.

Prenatal diagnosis of neuronal ceroid-lipofuscinoses.

J. Opitz, S. Nag, R. Nickel, 1985, American journal of medical genetics.

Interstitial del(13q) associated with blindness and mental retardation.

J. Opitz, R. C. Juberg, P. Mowrey, 1984, American journal of medical genetics.

Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause.

J. Opitz, V. Penchaszadeh, R. Coco, 1982, American journal of medical genetics.

An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967.

J. Opitz, R. Laxová, M. Ridler, 1977, American journal of medical genetics.

Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome.

J. Opitz, F. Majewski, T. Goecke, 1982, American journal of medical genetics.

Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.

J. Opitz, A. Schinzel, M. Ranke, 1982, American journal of medical genetics.

Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.

J. Opitz, F. Majewski, H. Kemperdick, 1982, American journal of medical genetics.

Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.

J. Opitz, B. Harding, R. Winter, 1985, American journal of medical genetics.

Chromosomal mosaicism in the Killian/Teschler-Nicola syndrome.

T. Mohandas, J. Opitz, L. Raffel, 1986, American journal of medical genetics.

Assessment of reproductive risks and intentions by mothers of children with hemophilia.

J. Opitz, D. Brettler, E. Kraus, 1988, American journal of medical genetics.

Familial risks of congenital heart defect assessed in a population-based epidemiologic study.

J. Opitz, J. Boughman, J. Astemborski, 1987, American journal of medical genetics.

Trisomy 18 mosaicism in an adult with normal intelligence.

J. Opitz, M. Shohat, G. Kohn, 1987, American journal of medical genetics.

Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis.

B. Trask, G. van den Engh, D. Ledbetter, 1988, American journal of medical genetics.

Limb-body wall complex: II. Limb and spine defects.

J. Opitz, C. Curry, M. V. Van Allen, 1987, American journal of medical genetics.

Implications of malformations not due to amniotic bands in the amniotic band sequence.

J. Opitz, A. Hunter, B. Carpenter, 1986, American journal of medical genetics.

Imperforate anus in 700,000 consecutive liveborn infants.

J. Opitz, P. Baird, D. Spouge, 1986, American journal of medical genetics. Supplement.

Lethal osteogenesis imperfecta with amniotic band lesions: collagen studies.

P. Kaplan, J. Opitz, F. Glorieux, 1986, American journal of medical genetics.

Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis.

J. Opitz, J. Voltarelli, J. M. Pina-Neto, 1986, American journal of medical genetics.

Studies in neural tube defects. II. Pathologic findings in a prospectively collected series of anencephalics.

J. Opitz, N. Myrianthopoulos, M. Melnick, 1987, American journal of medical genetics.

Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)].

J. Opitz, S. Al‐Awadi, T. Farag, 1986, American journal of medical genetics.

The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome.

J. Opitz, J. Fryns, P. Moerman, 1988, American journal of medical genetics.

Juvenile polyposis: a case with early presentation and death attributable to adenocarcinoma of the pancreas.

J. Opitz, I. Walpole, G. Cullity, 1989, American journal of medical genetics.

The Perrault syndrome: clinical report and review.

J. Opitz, Y. Nishi, K. Hamamoto, 1988, American journal of medical genetics.

Invited essay on the psychological aspects of genetic counseling. V. Preselection: a family coping strategy in Huntington disease.

J. Opitz, S. Kessler, J. Reynolds, 1988, American journal of medical genetics.

Fanconi anemia, dyskeratosis congenita, and WT syndrome.

J. Opitz, J. Bernstein, N. Shahidi, 1987, American journal of medical genetics. Supplement.

Early prenatal diagnosis of mucolipidosis IV

J. Opitz, A. Ornoy, J. Arnon, 1987, American journal of medical genetics.

Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.

J. Opitz, R. Lowry, S. Yong, 1980, American journal of medical genetics.

Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13.

J. Opitz, R. Winter, S. Huson, 1988, American journal of medical genetics.

Delineation of the male phenotype in carniofrontonasal syndrome.

J. Opitz, C. Morris, J. Carey, 1987, American journal of medical genetics.

Batten disease: past, present, and future.

J. Opitz, D. L. Rider, R. Pullarkat, 1988, American journal of medical genetics. Supplement.

The Newfoundland aggregate of neuronal ceroid-lipofuscinosis.

J. Opitz, F. Andermann, S. Berkovic, 1988, American journal of medical genetics. Supplement.

Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities.

J. Opitz, I. Rapin, K. Wisniewski, 1988, American journal of medical genetics. Supplement.

Prenatal exclusion testing for Huntington disease using the polymerase chain reaction.

J. Opitz, A. Curtis, D. Brock, 1989, American journal of medical genetics.

Marker chromosomes: cytogenetic characterization and implications for prenatal diagnosis.

T. Mohandas, J. Opitz, M. Kaback, 1985, American journal of medical genetics.

Mosaic inversion duplication of chromosome 15 without phenotypic effect: occurrence in a father and daughter.

J. Opitz, R. Bachman, J. Mann, 1984, American journal of medical genetics.

Congenital anomalies: mortality and morbidity, burden and classification.

J. Opitz, N. Myrianthopoulos, C. Chung, 1987, American journal of medical genetics.

Twinning, nonrighthandedness, and fusion malformations: evidence for heritable causal elements held in common.

J. Opitz, C. Boklage, J. Reynolds, 1987, American journal of medical genetics.

The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.

J. Opitz, T. Costa, A. Hayes, 1985, American journal of medical genetics.

Occurrence of desmoids in patients with familial adenomatous polyposis of the colon.

J. Opitz, L. Pascoe, J. Decosse, 1987, American journal of medical genetics.

The hand-foot-genital (hand-foot-uterus) syndrome: family report and update.

J. Opitz, F. Halal, J. Reynolds, 1988, American journal of medical genetics.

Sixty-four patients with Brachmann-de Lange syndrome: a survey.

J. Opitz, L. Jackson, D. Kurnit, 1985, American journal of medical genetics.

Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis.

J. Opitz, Yoshifumi Yamamoto, T. Nara, 1988, American journal of medical genetics.

Congenital Abnormalities in Infancy.

J. Opitz, 1964 .

Johann Friedrich Meckel the Younger (1781-1833).

J. Opitz, P. Mullen, E. Seidler, 1984, American journal of medical genetics.

Monozygotic twins discordant for trisomy 21.

J. Opitz, L. Voullaire, J. Rogers, 1982, American journal of medical genetics.

Congenital heart defects in Sotos sequence.

J. Opitz, A. Kuwano, H. Kurashige, 1987, American journal of medical genetics.

Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes.

J. Opitz, F. Beemer, H. Veenema, 1986, American journal of medical genetics.

A severe form of congenital contractural arachnodactyly in two newborn infants.

J. Opitz, J. Friedman, G. Currarino, 1986, American journal of medical genetics.

Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred.

J. Opitz, R. Camerini-Otero, R. Anderson, 1984, American journal of medical genetics.

A further case of cyclopia due to unbalanced segregation of a previously reported rcp(1;7)(q32;q34) familial translocation.

J. Opitz, A. Schinzel, A. Schinzel, 1986, American journal of medical genetics.

Fragile (X) X-linked mental retardation I: relationship between age and intelligence and the frequency of expression of fragil (X)(q28).

J. Opitz, J. Knoll, A. Chudley, 1983, American journal of medical genetics.

Fragile X and autism: a multicenter survey.

J. Opitz, W. Brown, D. Fein, 1986, American journal of medical genetics.

Consanguinity studies in Wisconsin I: secular trends in consanguineous marriage, 1843-1981.

J. Opitz, R. Lebel, J. M. Opitz, 1983, American journal of medical genetics.

Pathological confirmation of cystic fibrosis in the fetus following prenatal diagnosis.

J. Opitz, A. Ornoy, B. Caspi, 1987, American journal of medical genetics.

Arthur G. Steinberg: an appreciation.

J. Opitz, T. Jenkins, A. Bearn, 1995, American journal of medical genetics.

"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment.

J. Opitz, G. Neri, F. Lalatta, 1990, American journal of medical genetics.

Brief clinical report: renal hypodysplasia and unilateral ovarian agenesis in the penta-X syndrome.

J. Opitz, R. Lesage, F. Halal, 1980, American journal of medical genetics.

MORTALITY AND PATHOLOGICAL FINDINGS IN C (OPITZ TRIGONOCEPHALY) SYNDROME

J. Opitz, S. Chin, S. Albrecht, 2006, Fetal and pediatric pathology.

Trigonocephaly: a new familial syndrome.

J. Opitz, M. Frydman, A. Kauschansky, 1984, American journal of medical genetics.

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes

J. Opitz, J. Dopazo, A. Alemán, 2016, American journal of medical genetics. Part A.

Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report

J. Opitz, S. Demarini, L. Travan, 2011, Journal of medical case reports.

Partial duplication of distal 17q.

J. Opitz, C. Hearty, A. Olney, 1985, American journal of medical genetics.

Hirschsprung disease: etiologic implications of unsuccessful prenatal diagnosis.

J. Opitz, D. Weaver, H. Bender, 1983, American journal of medical genetics.

Chromosome findings in 2,500 second trimester amniocenteses.

J. Opitz, D. Sarti, B. Crandall, 1980, American journal of medical genetics.

Ethical and legal aspects of genetics

J. Opitz, 1983 .

The genetics of quantitative plasma Lp(a): analysis of a large pedigree.

J. Opitz, D. Carmelli, R. Williams, 1983, American journal of medical genetics.

The effect of Mendelian disease on human health: a measurement.

J. Opitz, B. Childs, C. Scriver, 1985, American journal of medical genetics.

Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.

J. Opitz, P. Miny, W. Lenz, 1985, American journal of medical genetics.

Studies of malformation syndromes in man XXXXII: a pleiotropic dominant mutation affecting skeletal, sexual and apocrine-mammary development.

J. Opitz, P. Pallister, J. Herrmann, 1976, Birth defects original article series.

The acrocallosal syndrome.

J. Opitz, A. J. Thomson, M. Nelson, 1982, American journal of medical genetics.

The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity.

J. Opitz, R. Winter, C. Hall, 1983, American journal of medical genetics.

Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36

J. Opitz, S. Mundlos, H. Hennies, 2004, Journal of Medical Genetics.

Nuchal cysts syndromes: etiology, pathogenesis, and prenatal diagnosis.

J. Opitz, B. R. Elejalde, M. de Elejalde, 1985, American journal of medical genetics.

David Klein: an appreciation.

J. Opitz, 1990, American journal of medical genetics.

A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus

J. Opitz, S. Szelinger, V. Narayanan, 2017, American journal of medical genetics. Part A.

DNA techniques in prenatal diagnosis and in genetic pathology.

J. Opitz, H. Rehder, U. Friedrich, 1987, American journal of medical genetics. Supplement.

Idiopathic extrahepatic biliary atresia: recurrence in sibs in two families.

J. Opitz, M. Cunningham, V. Sybert, 1988, American journal of medical genetics.

Tricho-dento-osseous syndrome: heterogeneity or clinical variability.

J. Opitz, S. Shapiro, R. Jorgenson, 1983, American journal of medical genetics.

Multiple pterygium syndrome.

J. Opitz, Harold Chen, R. Lowry, 1980, American journal of medical genetics.

Deletions of different segments of the long arm of chromosome 4.

E. Zackai, J. Opitz, S. Packman, 1981, American journal of medical genetics.

Infantile autism and the fragile X. A Swedish multicenter study.

C. Gillberg, J. Opitz, G. Holmgren, 1986, American journal of medical genetics.

DNA linkage studies in the fragile X syndrome suggest genetic heterogeneity.

J. Opitz, W. Brown, E. Jenkins, 1986, American journal of medical genetics.

Speech disturbances (cluttering) in mildly impaired males with the Martin-Bell/fragile X syndrome.

J. Opitz, R. Hagerman, D M Hanson, 1986, American journal of medical genetics.

Cognitive profiles and the spectrum of clinical manifestations in heterozygous fra (X) females.

J. Opitz, R. Hagerman, M. Kemper, 1986, American journal of medical genetics.

Familial diaphragmatic defects: early prenatal diagnosis and evidence for major gene inheritance.

J. Opitz, M. Spence, M. Marazita, 1986, American journal of medical genetics. Supplement.

Physical growth and development in patients with Rett syndrome.

J. Opitz, V. A. Holm, J. Reynolds, 1986, American journal of medical genetics. Supplement.

Langer-Giedion syndrome with interstitial 8q-deletion.

J. Opitz, B. Zabel, W. Baumann, 1982, American journal of medical genetics.

Genetic analysis of sodium-lithium countertransport in 10 hypertension-prone kindreds.

J. Opitz, S. Hunt, R. Williams, 1984, American journal of medical genetics.

A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia.

J. Opitz, T. Wienker, P. Wieacker, 1985, American journal of medical genetics.

Phenotypic spectrum of 45,X/46,XY individuals.

J. Opitz, A. Vianna-Morgante, C. Rosenberg, 1987, American journal of medical genetics.

Counselling in diseases produced either by autosomal or X-linked recessive mutations.

J. Opitz, K. Patau, O. Frota-Pessoa, 1968, Acta genetica et statistica medica.

Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly.

J. Opitz, W. Dobyns, J. Kirkpatrick, 1985, American journal of medical genetics.

Inflammatory linear verrucous epidermal nevus (ILVEN) in a mother and her daughter.

J. Opitz, R. Happle, H. Hamm, 1986, American journal of medical genetics.

Studies of malformation syndromes of man XXXXIIB: Mother and son affected with the ulnar-mammary syndrome type Pallister

J. Opitz, J. Herrmann, C. Gonzalez, 1976, European Journal of Pediatrics.

Syndrome delineation. 1. Malformations and dysplasias.

J. Opitz, J. Herrmann, 1979, Postgraduate medicine.

Consideration of connective tissue dysfunction in the fragile X syndrome.

J. Opitz, R. Hagerman, L. Mcgavran, 1984, American journal of medical genetics.

Small-caliber skeletal muscle fibers do not suffer deleterious consequences of dystrophic gene expression.

J. Opitz, S. Carpenter, G. Karpati, 1986, American journal of medical genetics.

Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes.

J. Opitz, D. Bilheimer, J. Nora, 1985, American journal of medical genetics.

Hexosaminidase A deficiency in adults.

J. Opitz, R. Navon, Z Argov, 1986, American journal of medical genetics.

AFP and age screening for Down syndrome.

J. Opitz, N. Wald, H. Cuckle, 1988, American journal of medical genetics.

Forearm fullness in Coffin-Lowry syndrome: a misleading yet possible early diagnostic clue.

J. Opitz, C. Decoster, J. Hersh, 1984, American journal of medical genetics.

Autopsy findings in two adult siblings with Coffin-Lowry syndrome.

J. Opitz, G. Machin, J. Bernstein, 1987, American journal of medical genetics. Supplement.

Gonadal function in patients with Down syndrome.

J. Opitz, A. Warren, C. Migeon, 1987, American journal of medical genetics.

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

J. Opitz, David W. Smith, L. Lemli, 1964, The Journal of pediatrics.

Two cases of severe lethal Smith-Lemli-Opitz syndrome.

J. Opitz, J. Belmont, F. Greenberg, 1987, American journal of medical genetics.

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.

J. Opitz, J. Allanson, R. Pagon, 1987, American journal of medical genetics.

The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect.

D. Ledbetter, J. Opitz, R. Carpenter, 1987, American journal of medical genetics.

Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission.

J. Opitz, A. Root, W. K. Lee, 1982, American journal of medical genetics.

Pentasomy X: report of patient and studies of X-inactivation.

J. Opitz, I. Klisak, M. Valente, 1981, American journal of medical genetics.

Sedaghatian congenital lethal metaphyseal chondrodysplasia--observations in a second Iranian family and histopathological studies.

J. Opitz, H. Pesch, J. Spranger, 1987, American journal of medical genetics.

The syndromology of anorectal malformation (atresia, stenosis, ectopia).

J. Opitz, L. Pinsky, L. Pinsky, 1978, American journal of medical genetics.

Mitral valve prolapse and aortic dilatation in the fragile X syndrome.

J. Opitz, R. Hagerman, D. Synhorst, 1984, American journal of medical genetics.

Prevalence of mitral-valve prolapse in the Stickler syndrome.

J. Opitz, R. Liberfarb, A. Goldblatt, 1986, American journal of medical genetics.

Rett syndrome--natural history in 70 cases.

H. Moser, J. Opitz, S. Naidu, 1986, American journal of medical genetics. Supplement.

Tetralogy of Fallot with pulmonary atresia in siblings.

J. Opitz, M. Slim, J. Malouf, 1985, American journal of medical genetics.

Congenital pulmonary atresia with intact ventricular septum, tricuspid insufficiency, and patent ductus arteriosus in two sibs.

J. Opitz, N. Eriksen, R. C. Juberg, 1989, American journal of medical genetics.

Familial microtia, meatal atresia, and conductive deafness in three siblings.

J. Opitz, M. Schmid, U. Langenbeck, 1985, American journal of medical genetics.

Renal tubular dysgenesis: delayed onset of oligohydramnios.

J. Opitz, H. Toriello, A. Swinford, 1989, American journal of medical genetics.

Sternal malformation/vascular dysplasia association.

J. Opitz, J. Rutledge, M. Harrod, 1985, American journal of medical genetics.

The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs.

J. Opitz, R. Carmi, D. Abeliovich, 1983, American journal of medical genetics.

Abstracts from the 2nd NICHD conference on the RSH/SLO syndrome

J. Opitz, 1997 .

Psychological aspects of genetic counseling. IV. The subjective assessment of probability.

J. Opitz, S. Kessler, E. Levine, 1987, American journal of medical genetics.

Replacement therapy for inherited enzyme deficiency: liver orthotopic transplantation in Niemann-Pick disease type A.

J. Opitz, F. Glorieux, E. Delvin, 1977, American journal of medical genetics.

Discordant amniotic band sequence in monozygotic twins.

J. Opitz, N. Rose, A. Donnenfeld, 1985, American journal of medical genetics.

Familial occurrence of a developmental defect of the medial nasal processes.

J. Opitz, H. Toriello, J. Higgins, 1985, American journal of medical genetics.

Noonan phenotype associated with neurofibromatosis.

J. Opitz, J. Allanson, M. V. Van Allen, 1985, American journal of medical genetics.

Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness.

S. Folstein, J. Opitz, R. Pyeritz, 1987, American journal of medical genetics.

Heart development: an introduction.

J. Opitz, E. B. Clark, 2000, American journal of medical genetics.

Menkes syndrome in a girl with X-autosome translocation.

J. Opitz, B. Rogers, J. Higgins, 1987, American journal of medical genetics.

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

T. Walsh, M. King, J. Opitz, 2010, American journal of human genetics.

Additional case report of new neuroectodermal syndrome.

J. Opitz, C. Kaye, J. Zunich, 1984, American journal of medical genetics.

The differential symptomatology of errors of collagen metabolism: a tentative classification.

J. Opitz, J. Frézal, P. Maroteaux, 1986, American journal of medical genetics.

Elements of morphology: General terms for congenital anomalies

J. Opitz, R. Hennekam, L. Biesecker, 2013, American journal of medical genetics. Part A.

Ring chromosome 6: report of a patient and literature review.

J. Opitz, D. Chitayat, H. Nitowsky, 1987, American journal of medical genetics.

Animal model: renal lesions in cats with Chediak-Higashi-Steinbrinck syndrome.

J. Opitz, A. Hargis, D. Prieur, 1987, American journal of medical genetics.