Volume 70; Issue 2

American Journal of Medical Genetics

Volume 70; Issue 2

1

Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: A possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild

Kumar, D., Duggan, M. B., Mueller, R. F., Karbani, G.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.24 MB

english, 1997

2

Heterogeneity in adducted thumbs sequence

Moldavsky, M., Lerman-Sagie, T., Kutai, M., Legum, C., Harel, S.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 244 KB

english, 1997

3

Familial hydronephrosis unlinked to the HLA complex

Šantavá, Alena, Utíkalová, Anna, Bártová, Adéla, Drábek, Jiří, Šantavý, Jiří, Scheinar, Jiří

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 158 KB

english, 1997

4

Acceptance of home and clinic-based cystic fibrosis carrier education and testing by first, second, and third degree relatives of cystic fibrosis patients

Sorenson, J. R., Cheuvront, B., DeVellis, B., Callanan, N., Silverman, L., Koch, G., Sharp, T., Fernald, G.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 172 KB

english, 1997

5

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patients

Fokstuen, Siv, Bottani, Armand, Medeiros, Paula F. V., Antonarakis, Stylianos E., Stoll, Claude, Schinzel, Albert

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 394 KB

english, 1997

6

Cytogenetic and molecular studies of a familial paracentric inversion of Y chromosome present in a patient with ambiguous genitalia

Liou, Jui-Der, Ma, Yen-Ying, Gibson, Lisa H., Su, Hua, Charest, Nancy, Lau, Yun-Fai Chris, Yang-Feng, Teresa L.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 232 KB

english, 1997

7

VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community

Lurie, Iosif W., Ferencz, Charlotte

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 137 KB

english, 1997

8

Inherited unbalanced subtelomeric translocation in a child with 8p- and Angelman syndromes

Wenger, Sharon L., Sell, Susan L., Painter, Michael J., Steele, Mark W.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 554 KB

english, 1997

9

Central nervous system anomalies in Seckel syndrome: Report of a new family and review of the literature

Shanske, Alan, Caride, Diana G., Menasse-Palmer, Lisa, Bogdanow, Anna, Marion, Robert W.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 626 KB

english, 1997

10

Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: An X-linked disorder?

Pellegrino, Joan E., McDonald-McGinn, Donna M., Schneider, Adele, Markowitz, Richard I., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.44 MB

english, 1997

11

Two sibs with partial trisomy 2q

Barnicoat, A. J., Abusaad, I., Mackie, C. M., Robards, M. F.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 595 KB

english, 1997

12

Bilateral microphthalmia, esophageal atresia, and cryptorchidism: The anophthalmia-esophageal-genital syndrome

Shah, Deepak, Jones, Robert, Porter, Helen, Turnpenny, Peter

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 409 KB

english, 1997

13

A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature

Iqbal, M. Anwar, Ahmed, Mohammed Zein Seid, Wu, David, Sakati, Nadia

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 345 KB

english, 1997

14

European collaborative research on mosaicism in CVS (EUCROMIC)—fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy

Hahnemann, Johanne M., Vejerslev, Lars O.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 153 KB

english, 1997

15

Independence and adaptive behavior in adults with Williams syndrome

Davies, Mark, Howlin, Patricia, Udwin, Orlee

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 160 KB

english, 1997

16

Parity and Down syndrome

Källén, Karin

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 193 KB

english, 1997

17

Atypical achondroplasia

Gorlin, Robert J.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 79 KB

english, 1997

18

Another observation of atypical radiologic findings in achondroplasia not due to a common mutation of the FGFR-3 gene: Reply to Dr. Gorlin

Nishimura, Gen, Takada, Fumio

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 433 KB

english, 1997

19

Does periconceptional multivitamin use reduce the risk of neural tube defects associated with other birth defects?

Bower, Carol, Stanley, Fiona J.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 89 KB

english, 1997

20

Role of sex in familial aggregation of blood pressure in young families

Chen, Yue, Rennie, Donna C., Lockinger, Lori A., Dosman, James A.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 94 KB

english, 1997