Volume 72; Issue 4

American Journal of Medical Genetics

Volume 72; Issue 4

1

Further delineation of cerebro-osteo-nephrosis syndrome

Udler, Yevgenia, Halpern, Gabrielle J., Sher, Carron, Davidovitz, Miriam, Shohat, Mordechai

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 54 KB

english, 1997

2

A further case of Hutterite cerebro-osteo-nephrodysplasia

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 13 KB

english, 1997

3

Analysis of the glucokinase gene in Mexican families displaying early-onset non-insulin-dependent diabetes mellitus including MODY families

del Bosque-Plata, Laura, García-García, Eduardo, Ramírez-Jiménez, Salvador, Cabello-Villegas, Javier, Riba, Laura, Gómez-León, Amir, Vega-Hernández, Gerardo, Altamirano-Bustamante, Nelly, Calzada-León

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 149 KB

english, 1997

4

Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome

Tolarova, Marie M., Harris, John A., Ordway, Doris E., Vargervik, Karin

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 37 KB

english, 1997

5

Molecular diagnosis of deletions in the human multigene complex of growth and placental lactogen hormones

González-Rodríguez, E., Jaramillo-Rangel, G., Barrera-Saldaña, H. A.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 87 KB

english, 1997

6

Reference values for body proportions and body composition in adult women with Ullrich-Turner syndrome

Højbjerg Gravholt, Claus, Weis Naeraa, Rune

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 71 KB

english, 1997

7

Inherited inverted duplication of X chromosome in a male: Report of a patient and review of the literature

Shapira, Moshe, Dar, Hanna, Bar-El, Hanna, Bar-Nitzan, Noga, Even, Lea, Borochowitz, Zvi

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 235 KB

english, 1997

8

X-linked ichthyosis in Mexico: High frequency of deletions in the steroid sulfatase encoding gene

Cuevas-Covarrubias, S. A., Kofman-Alfaro, S. H., Maya-Núñez, G., Díaz-Zagoya, Juan C., Orozco, E. Orozco

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 62 KB

english, 1997

9

Biochemical investigation of young hospitalized Chinese children: Results over a 7-year period

Pang, C. P., Law, L. K., Mak, Y. T., Shek, C. C., Cheung, K. L., Mak, T. W. L., Lam, C. W., Chan, A. Y. W., Fok, T. F.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 33 KB

english, 1997

10

Maternal interview reports of family history of birth defects: Evaluation from a population-based case-control study of orofacial clefts

Romitti, Paul A., Burns, Trudy L., Murray, Jeffrey C.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 52 KB

english, 1997

11

Fragile X syndrome and deletions in FMR1: New case and review of the literature

Hammond, Lyn S., Macias, Michelle M., Tarleton, Jack C., Pai, G. Shashidhar

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 68 KB

english, 1997

12

Mseleni and Handigodu familial osteoarthropathies: Syndromic identity?

Agarwal, S. S., Phadke, S. R., Fredlund, V., Viljoen, D., Beighton, P.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 347 KB

english, 1997

13

Low MSAFP levels and Williams syndrome

Chodirker, Bernard N., Greenberg, Cheryl R., Giddins, Niels G., Dawson, Angelika J., Evans, Jane A., Chudley, Albert E.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 22 KB

english, 1997

14

De novo 16p deletion: ATR-16 syndrome

Lindor, Noralane M., Valdes, Maria G., Wick, Myra, Thibodeau, Stephen N., Jalal, Syed

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

15

Velocardiofacial manifestations and microdeletions in schizophrenic inpatients

Gothelf, Doron, Frisch, Amos, Munitz, Hanan, Rockah, Rivka, Aviram, Ayala, Mozes, Tamar, Birger, Moshe, Weizman, Abraham, Frydman, Moshe

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 81 KB

english, 1997

16

Autosomal dominant hypohidrotic ectodermal dysplasia in a large family

Aswegan, Andrew L., Josephson, Kevin D., Mowbray, Rodney, Pauli, Richard M., Spritz, Richard A., Williams, Marc S.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 453 KB

english, 1997

17

Evaluation of mental retardation: Recommendations of a consensus conference

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 64 KB

english, 1997

18

A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes

John A. Crolla, Peter Howard, Caroline Mitchell, Fiona L. Long, Nicholas R. Dennis

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 350 KB

english, 1997