John M. Optiz

发表

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

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

Update on counseling the family with a first-degree relative with a congenital heart defect.

J. M. Optiz, J. Nora, A. Nora, 1988, American journal of medical genetics.

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA.

L. Kunkel, U. Francke, M. Koenig, 1988, American journal of medical genetics.

Cord blood study on β‐thalassemia and hemoglobin E

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

Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families.

E. Zackai, B. Emanuel, J. Gorski, 1988, American journal of medical genetics.

Multiple sclerosis: updated risks for relatives.

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

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.

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.

X-linked mental retardation with macro-orchidism and marker-X chromosomes.

R. Lowry, C. Lin, R. Martin, 1980, American journal of medical genetics.

X-linked mental retardation: a study of 7 families.

P. Jacobs, T. Glover, H. G. Dunn, 1980, 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.

Dicentric Y chromosome arising via tandem translocation.

A. Chapelle, A. de la Chapelle, R. Herva, 1980, American journal of medical genetics.

Inbreeding in outport Newfoundland.

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

Decreased developmental stability as assessed by fluctuating asymmetry of morphometric traits in preterm infants.

D. Ben-Amitai, P. Merlob, E. Kobyliansky, 1988, American journal of medical genetics.

Tetraploidy in a 15-month-old girl.

H. Yamazaki, H. Shiono, J. Azumi, 1988, American journal of medical genetics.

Upper limb involvement in the Klein-Waardenburg syndrome.

J. M. Optiz, R. Goodman, A. Solomon, 1982, American journal of medical genetics.

An aborted human fetus with truncus arteriosus communis—Possible teratogenic effect of Tedral

E. Gilbert, J. M. Optiz, R. Matsuoka, 1985, Heart and Vessels.

Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.

Fraser Fc, J. Sproule, F. Fraser, 1980, American journal of medical genetics.

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly--a new syndrome? Part II: Neuropathological considerations.

E. Alvord, S. Clarren, J. Hall, 1980, American journal of medical genetics.

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.

S. Clarren, S. Reed, J. Hall, 1980, American journal of medical genetics.

Relation between height and clinical course in Duchenne muscular dystrophy.

M. Zatz, M. Vainzof, D. Rapaport, 1988, American journal of medical genetics.

Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28.

M. Hodes, J. Trofatter, P. Conneally, 1988, American journal of medical genetics.

Short rib-polydactyly syndrome, Majewski type.

H. Chen, S. Yang, E. Gonzalez, 1980, American journal of medical genetics.

Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction.

E. Zackai, B. Emanuel, Beverly S. Emanuel, 1980, 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.

Noonan syndrome: partial factor XI deficiency.

E. Briët, J. Dubbeldam, J. J. vd Kamp, 1988, American journal of medical genetics.

Anatomical abnormalities in mandibulofacial dysostosis.

S. Pruzansky, S. Herring, U. Rowlatt, 1979, 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.

Verification of the fetal valproate syndrome phenotype.

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

Plasma exchange removes glycosphingolipid in Fabry disease.

H. Moser, A. Moser, R. Pyeritz, 1980, 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.

Variability of the Holt-Oram syndrome in Saudi individuals.

W. Nyhan, M. Mardini, H. Najjar, 1988, American journal of medical genetics.

Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins.

J. M. Optiz, A. Olney, B. Buehler, 1988, American journal of medical genetics.