Volume 36; Issue 2

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American Journal of Medical Genetics Part A
Volume 36; Issue 2

American Journal of Medical Genetics Part A

Volume 36; Issue 2

1

Masthead

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 145 KB

english, 1990

2

Syndrome of a craniofacial dysostosis, limb malformation, and omphalocele

R. J. M. Gardner, P. S. Morrison, L. A. Faigan, J. C. Kennedy, P. H. Fitzgerald

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 368 KB

english, 1990

3

Partial duplication 1q: Report of four patients and review of the literature

Sonja A. Rasmussen, Jaime L. Frias, Charlotte Z. Lafer, Deborah L. Eunpu, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 719 KB

english, 1990

4

Tetrasomy 18p in a child with trisomy 18 phenotype

Dr. T. S. Singer, G. Kohn, S. Yatziv

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 335 KB

english, 1990

5

Autoimmune thyroiditis associated with mild “subclinical” hypothyroidism in adults with down syndrome: A comparison of patients with and without manifestations of Alzheimer disease

Maire E. Percy, Arthur J. Dalton, Vjerica D. Markovic, Donald R. Crapper McLachlan, Edith Gera, Jocelyn T. Hummel, Ann C. M. Rusk, Martin J. Somerville, David F. Andrews, Paul G. Walfish

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 744 KB

english, 1990

6

A visual interface to computer programs for linkage analysis

Dr. Cyril J. Chapman

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 439 KB

english, 1990

7

New cases of dermoodontodysplasia?

Dr. Marta Pinheiro, Floriano Peixoto Gomes-de-Sá-Filho, Newton Freire-Maia

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 638 KB

english, 1990

8

Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cb1-C type)

Yuval Brandstetter, Elliott Weinhouse, Mark L. Splaingard, Thomas T. Tang

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 710 KB

english, 1990

9

Case of direct insertion within a chromosome 3 leading to a chromosome 3p duplication in an offspring

Michael S. Watson, S. Bruce Dowton, James Rohrbaugh

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 329 KB

english, 1990

10

Interrupted aortic arch type B1 in a brother and sister: Suggestion of a recessive gene

Rainer Pankau, Johannes Funda, Armin Wessel

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 296 KB

english, 1990

11

Social mechanisms in the population genetics of Tay-Sachs and other lethal autosomal recessive diseases: A computer simulation model

Kathleen B. McKusick, Dr. Stephen R. Schach, Johan H. Koeslag

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 537 KB

english, 1990

12

Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II

Harvey J. Stern, John M. Graham Jr., Ralph S. Lachman, William Horton, Philip M. Bernini, Peter K. Spiegel, Joann Bodurtha, Elizabeth J. Ives, Maureen Bocian, David L. Rimoin

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 1.36 MB

english, 1990

13

The popliteal pterygium syndrome: Report of a new family and review of the literature

Alasdair Hunter

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 1.19 MB

english, 1990

14

Craniosynostosis in an infant with an interstitial deletion of 15q [46, XY,del(15)(q15q22.1)]

Yoshimitsu Fukushima, Keiko Wakui, Toshiro Nishida, Hiroshi Nishimoto

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 420 KB

english, 1990

15

Deletions in chromosome 2 and fragile sites

C. G. Palmer, N. Heerema, M. Bull

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 453 KB

english, 1990

16

Heterogeneity in the familial aggregation of fasting serum uric acid level in five North American populations: The lipid research clinics family study

Treva Rice, George P. Vogler, Tammy S. Perry, Peter M. Laskarzewski, Michael A. Province, D. C. Rao

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 738 KB

english, 1990

17

Oto-palato-digital syndrome, type II: Evidence for defective intramembranous ossification

Tsutomu Ogata, Nobutake Matsuo, Gen Nishimura, Hiroshi Hajikano

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 771 KB

english, 1990

18

Use of a probe for the putative sex determining gene, Zinc finger Y, in the study of patients with ambiguous genitalia and XY gonadal dysgenesis

Robert P. Erickson, Vera Verga, Majed Dasouki

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 499 KB

english, 1990

19

X-linked recessive torsion dystonia in the Philippines

Kenneth G. Kupke, Lillian V. Lee, George H. Viterbo, Jose Arancillo, Timothy Donlon, Ulrich Müller

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 558 KB

english, 1990

20

Short stature, brachydactyly, small ears, and a pattern of minor anomalies in brother and sister born to consanguineous parents: A Hitherto Unreported syndrome?

Albert Schinzel, Sergio Bernasconi

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 376 KB

english, 1990

21

Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46, XY/46,XY, –18,+ dic(18)(q12.2)]

Christine R. Bryke, Valerie Lindgren, Julie S. Fryburg, Teresa L. Yang-Feng

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 484 KB

english, 1990

22

Complicated hereditary spastic paraparesis with cerebral white matter lesions

Dr. David H. Gutmann, Kenneth H. Fischbeck, John Kamholz

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 706 KB

english, 1990

23

Analysis Of cultured chorionic villi in a case of osteogenesis imperfecta type II: Implications for prenatal diagnosis

Dorothy K. Grange, Mary Beth Lewis, Joan C. Marini

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 755 KB

english, 1990

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