J. Reynolds

发表

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.

Noonan syndrome: a review.

J. Opitz, H. Méndez, J. Reynolds, 1985, 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.

Second Annual Prader‐Willi Syndrome Scientific Conference

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

Atypical phenotype associated with deletion (15) (pter----q11::q13----qter).

J. F. Reynolds, A. Daniel, J. Fitzgerald, 1987, American journal of medical genetics.

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

J. Opitz, M. Butler, F. Meaney, 1987, 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.

Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations.

James G. Chandler, J. Barber, J. F. Reynolds, 1983, Pediatrics.

Metacarpophalangeal pattern profile analysis in Sotos syndrome: a follow-up report on 34 subjects.

M. Butler, P. Dijkstra, F. Meaney, 1988, 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.

Multiple sclerosis: updated risks for relatives.

A. Sadovnick, R. Ward, J. M. Optiz, 1988, 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.

Decreased membrane fluidity of lymphocytes from patients with juvenile neuronal ceroid-lipofuscinosis.

J. Gärtner, A. Kohlschütter, C. Hübner, 1988, American journal of medical genetics. Supplement.

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

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

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.

Male excess among anatomically normal fetuses in spontaneous abortions.

D. Warburton, J. Opitz, J. Byrne, 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.

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

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

Hypertelorism, proptosis, ptosis, polysyndactyly, hypospadias and normal height in 3 sibs: a new syndrome?

K. Naguib, J. M. Optiz, J. Reynolds, 1988, American journal of medical genetics.

Frequency of carriers of chronic (type I) Gaucher disease in Ashkenazi Jews.

A. Cnaan, I. Gelernter, Y. Matoth, 1987, American journal of medical genetics.

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.

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

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

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.

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

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

New autosomal dominant branchio‐oculo‐facial syndrome

J. Opitz, K. Jones, A. Fujimoto, 1987, 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.

Complex chromosomal rearrangement in a woman with multiple miscarriages.

M. Schmid, T. Haaf, G. Neri, 1988, American journal of medical genetics.

Clinical variability within Brachmann-de Lange syndrome: a proposed classification system.

J. F. Magee, A. Toi, M. V. Van Allen, 1993, 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.

Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay.

A. Labbé, P. Dechelotte, J. M. Optiz, 1988, 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.

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.

Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.

A. Verloes, G. Neri, C. Lambotte, 1989, American journal of medical genetics.

45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis.

D. Peakman, A. Robinson, M. Wheeler, 1988, American journal of medical genetics.

Trisomy 18 with Cantrell pentalogy in a stillborn infant.

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

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.

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

D. Wieczorek, M. Muenke, S. A. Brown, 2001, Human molecular genetics.

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.

Inbreeding in outport Newfoundland.

J. M. Optiz, J. Kennedy, W. Marshall, 1988, American journal of medical genetics.

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.

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.

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.

Limb body wall complex: I. Pathogenesis.

C. Curry, M. V. Van Allen, M. I. Allen, 1987, American journal of medical genetics.

Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.

J. Wladimiroff, G. Neri, P. Stewart, 1987, 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.

Diagnostic criteria for Walker-Warburg syndrome.

L B Holmes, F Greenberg, J. Opitz, 1989, 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.

Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome.

E. Traboulsi, G. Offerhaus, A. Krush, 1988, 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.

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.

New Marfanoid syndrome with craniosynostosis.

T. Kurczynski, J. Furlong, J. R. Hennessy, 1987, 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.

Predictive testing for Huntington disease: II. Demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates.

M. Hayden, J. F. Reynolds, M. Bloch, 1989, 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.

Hemifacial microsomia, ipsilateral facial palsy, and malformed auricle in two families: an autosomal dominant malformation.

M. Robinow, J. F. Reynolds, J. Fitzgerald, 1986, American journal of medical genetics. Supplement.

Mosaic isochromosome 12p.

R. Pauli, R. Zeier, G. Sekhon, 1987, American journal of medical genetics.

Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases.

U. Francke, K. Anyane-Yeboa, D. Warburton, 1987, American journal of medical genetics.

Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome.

J. M. Optiz, J. Hoo, B. Rollnick, 1988, American journal of medical genetics.

Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients.

P. Miny, I. Pawlowitzki, P. Diekstall, 1987, 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.

DNA banking: the effects of storage of blood and isolated DNA on the integrity of DNA.

L. Madisen, M. Hodes, M. E. Hodes, 1987, American journal of medical genetics.

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

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

Persistent genetic isolation in outport Newfoundland

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

Possible metronidazole teratogenicity and clefting.

F. Greenberg, F. Greenberg, J. Reynolds, 1985, 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.

Craniofrontonasal dysplasia in a three-generation kindred.

M. Edgerton, J. F. Reynolds, T. Kelly, 1982, Journal of craniofacial genetics and developmental biology.

The DiGeorge anomaly as a developmental field defect.

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

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.

DEFECTS OF BLASTOGENESIS

J. Opitz, E. Gilbert-Barness, G. Zanni, 2002, 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.

Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.

R. Matalon, K. Michals, J. M. Optiz, 1988, American journal of medical genetics.

The syndromes of Sotos and Weaver: reports and review.

J. Opitz, D. Weaver, J. F. Reynolds, 1998, 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.

X‐linked hydrocephalus

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

Acromicric dysplasia.

P. Maroteaux, R. Rappaport, R. Rappaport, 1986, 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.

Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family.

P. Kaplan, P. Russo, S. O'regan, 1988, 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 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.

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.

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

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

Fragile X and autism: a multicenter survey.

J. Opitz, W. Brown, D. Fein, 1986, 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.

Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia.

F. J. Hill, R. Winter, G. Neri, 1988, American journal of medical genetics.

Partial duplication of distal 17q.

J. Opitz, C. Hearty, A. Olney, 1985, 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.

Recurrence risk in the Angelman (“happy puppet”) syndrome

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

Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes).

R. Winter, S. Huson, D. Prieur, 1988, American journal of medical genetics.

Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission.

R. Winter, K. Macdermot, K. Macdermot, 1987, American journal of medical genetics.

Emotional symptoms in Prader-Willi syndrome adolescents.

P. Accardo, B. Whitman, J. Reynolds, 1987, 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.

Nuchal cysts syndromes: etiology, pathogenesis, and prenatal diagnosis.

J. Opitz, B. R. Elejalde, M. de Elejalde, 1985, American journal of medical genetics.

Sexual behavior and Down syndrome: the biological mechanism.

Mary B. Williams, P. Martin-DeLeon, M. Williams, 1987, American journal of medical genetics.

Idiopathic extrahepatic biliary atresia: recurrence in sibs in two families.

J. Opitz, M. Cunningham, V. Sybert, 1988, American journal of medical genetics.

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

J. Opitz, J. F. Reynolds, A. Patrick, 1987, 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.

Osteogenesis imperfects type III: An ancient mutation in Africa?

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

Duplication of distal 15q: report of five new cases from two different translocation kindreds.

K. Jones, O. Jones, J. Mascarello, 1987, American journal of medical genetics.

The Rett syndrome.

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

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

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

A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation.

M. Pembrey, K. Davies, R. Winter, 1985, American journal of medical genetics.

Interstitial deletion of the long arm of chromosome 10: Del(10)(q11.2q21)

J. Reynolds, John M. Opitz, J. Holden, 1985 .

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.

Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child.

J. Tolmie, M. McNay, J. M. Connor, 1987, American journal of medical genetics.

Physical growth and development in patients with Rett syndrome.

J. Opitz, V. A. Holm, J. Reynolds, 1986, American journal of medical genetics. Supplement.

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.

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.

Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes.

J. Opitz, D. Bilheimer, J. Nora, 1985, American journal of medical genetics.

A major gene model for the familial aggregation of plasma IgA concentration

Alexander F. Wilson, R. Elston, B. Julian, 1987, American journal of medical genetics.

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.

History and general overview

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

Hexosaminidase A deficiency in adults.

J. Opitz, R. Navon, Z Argov, 1986, American journal of medical genetics.

The clinical spectrum of a-L-iduronidase deficiency

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

AFP and age screening for Down syndrome.

J. Opitz, N. Wald, H. Cuckle, 1988, American journal of medical genetics.

Tibial hemimelia: Report on 37 new cases, clinical and genetic considerations

A. Richieri‐Costs, I. Ferrareto, D. Masiero, 1987, American journal of medical genetics.

del(20p) with manifestations of arteriohepatic dysplasia.

J. Friedman, J. Byrne, M. Harrod, 1986, American journal of medical genetics.

Gonadal function in patients with Down syndrome.

J. Opitz, A. Warren, C. Migeon, 1987, American journal of medical genetics.

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.

Tracheal agenesis and associated malformations: a comparison with tracheoesophageal fistula and the VACTERL association.

C. Greenberg, J. Evans, J. Reggin, 1985, 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.

The Noonan-CFC controversy.

M. Zollino, J. F. Reynolds, G. Neri, 1991, 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.

Therapeutic effects of a ketogenic diet in Rett syndrome.

D. Trauner, R. Haas, T. Merritt, 1986, American journal of medical genetics. Supplement.

Psychological aspects of genetic counseling. IV. The subjective assessment of probability.

J. Opitz, S. Kessler, E. Levine, 1987, American journal of medical genetics.

Amnion rupture sequence in previable fetuses.

D. Kalousek, S. Bamforth, J. Reynolds, 1988, American journal of medical genetics.

Discordant amniotic band sequence in monozygotic twins.

J. Opitz, N. Rose, A. Donnenfeld, 1985, American journal of medical genetics.

Wrinkly skin syndrome: Phenotype and additional manifestations

J. Opitz, S. Wesson, J. F. Reynolds, 1987, 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.

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.

Noonan phenotype associated with neurofibromatosis.

J. Opitz, J. Allanson, M. V. Van Allen, 1985, American journal of medical genetics.

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.

E. Zackai, H. Moser, A. Moser, 1986, 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.

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.

Prenatal diagnosis of distal arthrogryposis.

C. Morris, J. Carey, J. Carey, 1988, American journal of medical genetics.

Analysis of Pena Shokeir phenotype.

J. Hall, J. Reynolds, John M. Opitz, 1986, American journal of medical genetics.

Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds.

R. Lowry, K. Morgan, D. Mayock, 1985, 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.

Folic acid treatment in males and females with fragile-(X)-syndrome.

U. Froster-Iskenius, E. Schwinger, R. Matthes, 1986, American journal of medical genetics.

A lethal autosomal recessive syndrome of multiple congenital contractures.

R. Herva, P. Kirkinen, U. Seppänen, 1985, American journal of medical genetics.

Vertical transmission of the neurofibromatosis/Noonan syndrome.

E. McPherson, T. Quattrin, T. Putnam, 1987, American journal of medical genetics.

Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis.

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

Selective termination of multiple gestations.

M. Golbus, J. Goldberg, P. Callen, 1988, American journal of medical genetics.

Verification of the fetal valproate syndrome phenotype.

S. Clarren, J. Atkin, L. Elsas, 1988, American journal of medical genetics.

Ring chromosome 6: report of a patient and literature review.

J. Opitz, D. Chitayat, H. Nitowsky, 1987, American journal of medical genetics.

Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards.

C. Mehringer, D. Rimoin, R. Pauli, 1985, American journal of medical genetics.

The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature.

T. Gollop, L. Fontes, J. Reynolds, 1985, American journal of medical genetics.

On the statistical determination of major gene mechanisms in continuous human traits: regressive models.

G. Bonney, G E Bonney, J. Reynolds, 1984, 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.

Expanding the spectrum of the Perlman syndrome.

K. Copeland, F. Greenberg, J. M. Optiz, 1988, American journal of medical genetics.

The developmental field concept.

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

A genetic linkage study in 15 families of individuals with von Recklinghausen neurofibromatosis.

R. Ferrell, V. Riccardi, B. G. Dunn, 1985, American journal of medical genetics.

Decision making: whether or not to have prenatal diagnosis and abortion for X-linked conditions.

M. Golbus, D. Beeson, J. Reynolds, 1985, American journal of medical genetics.

Attitudes toward presymptomatic testing in Huntington disease.

R H Myers, R. Myers, B. Berkman, 1987, American journal of medical genetics.

Attitudes of persons at risk for Huntington disease toward predictive testing.

S. Kessler, L. Worth, T. Field, 1987, American journal of medical genetics.

The impact of MSAFP screening on genetic services, 1984-1986.

F. Greenberg, J. Reynolds, Frank Greenberg, 1988, American journal of medical genetics.

Prenatal diagnosis of deletion 17p13 associated with DiGeorge anomaly.

D. Ledbetter, J. Huhta, R. Carpenter, 1988, American journal of medical genetics.

A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal.

C. Scriver, L. Cartier, S. Zeesman, 1984, American journal of medical genetics.

Further linkage data on Norrie disease.

G. Sanborn, J. Kivlin, J. Carey, 1987, American journal of medical genetics.

GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: a possible "new" recessively inherited MCA/MR syndrome.

A. Verloes, F. Fraser, C. Lambotte, 1989, American journal of medical genetics.

Cord blood study on β‐thalassemia and hemoglobin E

S. Fucharoen, J. M. Optiz, J. F. Reynolds, 1988 .

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.

Hyperpigmented lesions of the retinal pigment epithelium in familial adenomatous polyposis.

M. Heinemann, J. Decosse, H. Miller, 1988, American journal of medical genetics.

Osteogenesis imperfecta with unusual skeletal lesions: report of three families.

J. Dorst, R. Pyeritz, R. N. Irani, 1985, American journal of medical genetics.

Neural tube defects: heterogeneity and homogeneity.

M. Seller, D. Kalousek, J. Reynolds, 1986, American journal of medical genetics. Supplement.

Duplication of 7q31.2----7qter and deficiency of 18qter: report of two patients and literature review.

G. Dewald, D. D. Johnson, V. Michels, 1986, American journal of medical genetics.

A clinico-genetic investigation of Leydig cell hypoplasia.

B. Mendonca, I. Arnhold, W. Bloise, 1987, American journal of medical genetics.

Hirschsprung disease in the offspring of mothers exposed to hyperthermia during pregnancy.

A. Lipson, J. Reynolds, John M. Optiz, 1988, American journal of medical genetics.

Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33).

E. Wassman, M. Gordon, K. Benson, 1986, American journal of medical genetics.

Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.

R. Gorlin, D. Cohen, J. A. Reed, 1987, American journal of medical genetics.

Inheritance of fragile X syndrome: an hypothesis.

J. Friedman, P. Howard‐Peebles, J. Reynolds, 1986, American journal of medical genetics.

Oral folic acid versus placebo in the treatment of males with the fragile X syndrome.

P. Hagerman, R. Hagerman, L. Mcgavran, 1986, American journal of medical genetics.

Aortic root dilatation and mitral valve prolapse in the fragile X syndrome.

R. Hagerman, D. Synhorst, J. Loehr, 1986, American journal of medical genetics.

Psychiatric disability associated with the fragile X chromosome.

A. Reiss, C. Feinstein, K. Toomey, 1986, American journal of medical genetics.

History and relevance of the Hutterite population for genetic studies.

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

47,XXX chromosome constitution, ovarian dysgenesis, and genito-urinary malformation.

G. Spear, M. Porto, J. Reynolds, 1988, American journal of medical genetics.

Interstitial deletion of the long arm of chromosome 4

A. Chudley, D. Riordan, M. Ray, 1988 .

Histologic and ultrastructural studies on the mineralization process in hypophosphatasia.

D. Rimoin, A. Ornoy, G. Adomian, 1985, American journal of medical genetics.

Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut.

M. Khlat, V. D. Der Kaloustian, A. Khudr, 1986, American journal of medical genetics.

The first Meckel oration: on the causes of morphological differences in a population of guinea pigs.

S. Wright, J. Reynolds, J. M. Opitz, 1984, American journal of medical genetics.

Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: a new syndrome?

M. E. Hodes, M. Ramos-Arroyo, M. Modes, 1987, American journal of medical genetics.

Diagnosis and treatment of typical and atypical forms of lipopigment storage disorders.

M. Philippart, R. Pullarkat, J. Reynolds, 1988, American journal of medical genetics. Supplement.

Genetic analysis of serum lipid levels and blood pressure in a large kindred.

M. Marazita, K. Namboodiri, J. Reynolds, 1987, American journal of medical genetics.

Cystic fibrosis in Ontario.

M. W. Thompson, M. Corey, J. Sturgess, 1985, American journal of medical genetics.

Decreased superoxide dismutase-2 activity in a patient with ring chromosome 6.

K. Ohama, Y. Nishi, T. Usui, 1987, American journal of medical genetics.

X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.

L. Graziani, L. Jackson, L. Streletz, 1985, American journal of medical genetics.

Hypomagnesemia masking the appearance of elevated parathyroid hormone concentrations in familial pseudohypoparathyroidism.

R. Chesney, D. Allen, F. Greer, 1988, American journal of medical genetics.

Reproductive choices in hemophilic men and carriers.

M. Hilgartner, C. Miller, L. Aledort, 1987, American journal of medical genetics.

Neonatal diagnosis of Prader-Willi syndrome and its implications.

D. Ledbetter, F. Greenberg, F. Elder, 1987, American journal of medical genetics.

Smith‐Lemli‐Opitz syndrome

J. Reynolds, P. Meinecke, J. M. Opitz, 1987 .

Clinical anthropometry and medical genetics: a compilation of body measurements in genetic and congenital disorders.

L A Farrer, L. Farrer, F. Meaney, 1986, American journal of medical genetics.

Azoospermia and duplication 3qter as distinct consequences of a familial t(X;3) (q26;q13.2).

J. Cantú, H. Rivera, M. Díaz, 1985, 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.

Morphological studies in canine (Dalmatian) neuronal ceroid-lipofuscinosis.

H. Goebel, T. Bilzer, R. Pullarkat, 1988, American journal of medical genetics. Supplement.

W. Wertelecki, D. Superneau, J. Reynolds, 1985, American journal of medical genetics.

Investigation on genetic heterogeneity in Duchenne muscular dystrophy.

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

Neuropathology of Rett syndrome.

K. Jellinger, H. Zoghbi, A. Percy, 1988, Acta neuropathologica.

Clinical recognition of Rett syndrome.

M. Philippart, J. Reynolds, J. M. Opitz, 1986, American journal of medical genetics. Supplement.

A new form of hypohidrotic ectodermal dysplasia.

J. Reynolds, J. M. Opitz, Denis Viljoen, 1988, American journal of medical genetics.

Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome).

H. Toriello, E. Beaumont, J. Sharda, 1985, American journal of medical genetics.

Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism.

M. Lubinsky, C. Angle, C. Witkop, 1985, American journal of medical genetics.

A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.

J. Crolla, M. Bobrow, V. Dubowitz, 1986, American journal of medical genetics.

Current concepts: Vater and other associations: Historical perspectives and modern interpretations

M. Lubinsky, J. Reynolds, J. M. Opitz, 1986 .

Prenatal detection of intestinal obstructions, aneuploidy syndromes, and cystic fibrosis by microvillar enzyme assays (disaccharidases, alkaline phosphatase, and glutamyltransferase) in amniotic fluid.

M. Potier, L. Dallaire, S. Melançon, 1987, American journal of medical genetics.

The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib.

J. Tolmie, J. Neilson, D. Doyle, 1987, American journal of medical genetics.

An anatomical study of a duplication 6p based on two sibs.

B. Smith, J. C. Pettersen, J. Reynolds, 1985, American journal of medical genetics.

Developmental studies of mouse hereditary anemias.

E. Russell, J. Reynolds, J. M. Opitz, 1984, American journal of medical genetics.

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

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

Late-onset oculogastrointestinal muscular dystrophy.

H. S. Thompson, V. Ionasescu, C. Aschenbrener, 1984, American journal of medical genetics.

Oligosaccharyl diphosphodolichols in the ceroid-lipofuscinoses.

R. Pullarkat, S. Sklower, K. S. Kim, 1988, American journal of medical genetics. Supplement.

Clinical classification of neuronal ceroid-lipofuscinosis subtypes.

J. Alroy, R. Boustany, E. Kolodny, 1988, American journal of medical genetics. Supplement.

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.

Intended use of predictive testing by those at risk for Huntington disease.

G. Meissen, R. L. Berchek, J. Reynolds, 1987, American journal of medical genetics.

On the genetics of Rett syndrome: analysis of family and pedigree data.

W. Killian, J. Reynolds, J. M. Opitz, 1986, American journal of medical genetics. Supplement.

Lethal multiple pterygium syndrome: three consecutive cases in one family.

J. B. Hill, N. Martin, G. O'Brien, 1986, American journal of medical genetics.

Gingival fibromatosis with sensorineural hearing loss: an autosomal dominant trait.

J. Hartsfield, D. Bixler, J. Reynolds, 1985, American journal of medical genetics.

A distinctive facial appearance in neurofibromatosis von Recklinghausen.

B. Rosenblatt, P. Kaplan, J. Reynolds, 1985, American journal of medical genetics.

Ichthyosis and neutral lipid storage disease.

J. J. O'Donnell, C. Epstein, L. Epstein, 1985, American journal of medical genetics.

Dermatoglyphics in Börjeson-Forssman-Lehmann syndrome.

J. Reynolds, Charles Piussan, D. B. Flannery, 1985, American journal of medical genetics.

Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism.

J. Knoll, B. Rozdilsky, L. Becker, 1985, American journal of medical genetics.

Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk.

J. Carey, C. Curry, F. Greenberg, 1986, American journal of medical genetics.

Apparent G syndrome presenting as neck and upper limb dystonia and severe gastroesophageal reflux.

C. Williams, J. Frías, C. Williams, 1987, American journal of medical genetics.

A girl with G syndrome and agenesis of the corpus callosum.

M. Genuardi, P. Costa, G. Natoli, 1987, American journal of medical genetics.

Partial trisomy 9--further delineation of the phenotype.

D. Viljoen, B. Fraser, R. Smart, 1988, American journal of medical genetics.

Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism.

M. Evans, F. Qureshi, H. Nadler, 1988, American journal of medical genetics.

Brachmann-de Lange syndrome: evidence for autosomal dominant inheritance.

K. Jones, L. Robinson, K. L. Jones, 1985, American journal of medical genetics.

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.

Cystic hamartomata of lung and kidney: a spectrum of developmental abnormalities.

J. Graham, J. Beckwith, P. Sprague, 1987, American journal of medical genetics.

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome.

D. Chitayat, B. Keena, J. Friedman, 1989, American journal of medical genetics.

Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata.

J. Graham, W. R. Breg, W. Wertelecki, 1986, American journal of medical genetics.

Mosaic trisomy 7 and renal dysplasia.

A. Amarose, A. Moawad, M. Verp, 1987, American journal of medical genetics.

Vesicoureteric reflux: segregation analysis.

K. Lynn, E. Janus, C. Chapman, 1985, American journal of medical genetics.

Biotin and Rett syndrome.

V. Da Silva, C. Bachmann, J. Colombo, 1986, American journal of medical genetics. Supplement.