Volume 95; Issue 2

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American Journal of Medical Genetics Part A
Volume 95; Issue 2

American Journal of Medical Genetics Part A

Volume 95; Issue 2

1

Screening for the fragile X syndrome among mentally retarded males by hair root analysis

Ergül Tunçbilek, Mehmet Alikasifoğlu, Dilek Aktas, Funda Duman, Hulya Yanik, Burçu Anar, Ben Oostra, Rob Willemsen

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 1.29 MB

english, 2000

2

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

Angela E. Lin, Patricia H. Birch, Bruce R. Korf, Romano Tenconi, Michihito Niimura, Minna Poyhonen, Kim Armfield Uhas, Mauro Sigorini, Raffaele Virdis, Corrado Romano, Eugenio Bonioli, Pierre Wolkenst

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 110 KB

english, 2000

3

Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis

Matthew J. Edwards, Lindsay Rowe, Victor Petroff

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 354 KB

english, 2000

4

Aspects of skeletal development in fragile X syndrome fetuses

Helle Hjalgrim, Birgit Fisher Hansen, Karen Brøndum-Nielsen, Dorrit Nolting, Inger Kjær

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 4.67 MB

english, 2000

5

Standard growth curves for Japanese patients with Prader-Willi syndrome

Toshiro Nagai, Nobutake Matsuo, Yasushi Kayanuma, Hidefumi Tonoki, Yoshimitsu Fukushima, Hirofumi Ohashi, Takayasu Murai, Tomoko Hasegawa, Yoshikazu Kuroki, Norio Niikawa

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 391 KB

english, 2000

6

Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: Identification of a severe phenotype

Theresa A. Grebe, C. Clericuzio

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 673 KB

english, 2000

7

Heterogeneity of cardio-facio-cutaneous syndrome

Giovanni Neri, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 60 KB

english, 2000

8

Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation

Mustafa Tekin, Colleen Jackson-Cook, Arlene Buller, Andrea Ferreira-Gonzalez, Arti Pandya, Carleton T. Garrett, Joann Bodurtha

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 2.50 MB

english, 2000

9

Cognitive and behavioral profile of fragile X boys: Correlations to molecular data

M. Backes, B. Genç, J. Schreck, W. Doerfler, G. Lehmkuhl, A. von Gontard

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 159 KB

english, 2000

10

Yunis-Varon syndrome: Evidence for a lysosomal storage disease

Elisabeth Walch, Matthias Schmidt, Rolf E. Brenner, Dieter Emons, Christof Dame, Bertram Pontz, Ottmar D. Wiestler, Peter Bartmann

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 226 KB

english, 2000

11

Nonsyndromic type of hereditary multiple basal cell carcinoma

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 65 KB

english, 2000

12

Chromosome 7q22-q31 duplication: Report of a new case and review

A. Mégarbané, P. Gosset, N. Souraty, J.M. Lapierre, C. Turleau, M. Vekemans, J. Loiselet, M. Prieur

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 312 KB

english, 2000

13

Anal atresia, vertebral, genital, and urinary tract anomalies: A primary polytopic developmental field defect identified through an epidemiological analysis of associations

M.L. Martínez-Frías, E. Bermejo, E. Rodríguez-Pinilla

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 82 KB

english, 2000

14

Homozygosity for the W151X stop mutation in the Δ7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis

Judith Löffler, Alexander Trojovsky, Bettina Casati, Peter M. Kroisel, Gerd Utermann

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 251 KB

english, 2000

15

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: A second FG locus [FGS2]?

Sylvain Briault, Laurent Villard, Ute Rogner, Johannes Coy, Sylvie Odent, Josette Lucas, Edith Passage, Danping Zhu, Antony Shrimpton, Marcus Pembrey, Marianne Till, Agnès Guichet, Sabine Dessay, Mich

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 1.85 MB

english, 2000

16

Sacrococcygeal teratoma in two cases of Sotos syndrome

N.J. Leonard, T. Cole, R. Bhargava, L.H. Honoré, J. Watt

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 100 KB

english, 2000

17

GOMBO syndrome: Another “pseudorecessive” disorder due to a cryptic translocation

Alain Verloes, Sylviane Lesenfants, Mauricette Jamar, Vinciane Dideberg, Christian Herens

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

18

Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria

Kory Keller, Helen McCune, Charles Williams, Maximilian Muenke

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 100 KB

english, 2000

19

Erratum: Are hereditary hemochromatosis mutations involved in alzheimer disease?

S. Moalem, M.E. Percy, D.F. Andrews, T.P. Kruck, S. Wong, A.J. Dalton, P. Mehta, B. Fedor, A.C. Warren

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 39 KB

english, 2000

20

Adult with an interstitial deletion of chromosome 10 [del(10)(q25.1q25.3)]: Overlap with Coffin-Lowry Syndrome

Shawn E. McCandless, Stuart Schwartz, Stuart Morrison, Krishnaiah Garlapati, Nathaniel H. Robin

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 280 KB

english, 2000

21

Non-syndromic mental retardation segregating with an apparently balanced t(1;17) reciprocal translocation through three generations

S.Z. Hussain, A.L. Evans, O.A. Ahmed, D. Jones, K.D. McDermot, E.C. Svennevik, R.J. Hastings

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 197 KB

english, 2000

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