Volume 50; Issue 3

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Clinical Genetics
Volume 50; Issue 3

Clinical Genetics

Volume 50; Issue 3

1

X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein

Kimberly Johnson, Helen A. Mintz-Hittner, Yvette P. Conley, Robert E. Ferrell

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 527 KB

english, 1996

2

Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability. A survey based on the Danish Facial Cleft Register

Karen Brøndum-Nielsen, Kaare Christensen

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 432 KB

english, 1996

3

Lack of association of angiotensin-converting enzyme (ACE). Gene insertion/deletion polymorphism with CAD in two Asian populations

N. Saha, P. J. Talmud, J. S. H. Tay, S. E. Humphries, J. Basair

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 454 KB

english, 1996

4

Neuroradiology and clinical aspects of Usher syndrome

Marta L. Tamayo, Cesar Maldonado, Silvia L. Plaza, Gustavo M. Alvira, Gustavo E. Tamayo, Marta Zambrano, Jaime L. Frias, Jaime E. Bernal

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 936 KB

english, 1996

5

Mitotic and meiotic stability of the CAG repeat in the X-linked spinal and bulbar muscular atrophy gene

M. Watanabe, K. Abe, M. Aoki, K. Yasuo, Y. Itoyama, M. Shoji, Y. Ikeda, T. Iizuka, M. Ikeda, M. Shizuka, K. Mizushima, S. Hirai

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 461 KB

english, 1996

6

Deletion of the long arm of chromosome 6: two new patients and literature review

L. J. M. Evers, C. T. R. M. Schrander-Stumpel, J. J. M. Engelen, T. M. Hoorntje, C. F. M. Pulles-Heintzberger, J. J. P. Schrander, J. C. M. Albrechts, J. Peters, J. P. Fryns

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 3.34 MB

english, 1996

7

Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47, XXY karyotype

F. Ferda Özkinay, Mete Akisü, Nilgün Kültürsay, Resmiye Oral, Nermin Tansug, Gül Sapmaz

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 958 KB

english, 1996

8

A cystic fibrosis patient homozygous for 621 + 1G→T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro-esophageal reflux

Michal Witt, Andrzej Pogorzelski, Jerzy Zebrak, Ewa Rutkiewicz

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 211 KB

english, 1996

9

Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution

J. C. Zenteno, M. Aguinaga, V. Chavez, N. Sastré, M. R. Rivera, S. Kofman-Alfaro

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.34 MB

english, 1996

10

A concealed penis mimicking penile agenesis in an infant with trisomy 13

Chih-Ping Chen, Fen-Fen Liu, Sheau-Wen Jan, Tsung-Hsien Su, Chung-Chi Lan

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 861 KB

english, 1996

11

Short rib-polydactyly syndrome in twins: Beemer-Langer type with poly dactyly

Nursel Elçioǧlu, Güner Karatekin, Betül Sezgin, Asiye Nuhoǧlu, Asim Cenani

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 1.02 MB

english, 1996

12

Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis

Y. Yamada, K. Suzumori, M. Tanemura, H. Goto, N. Ogasawara

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 541 KB

english, 1996