American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 October 2001

Volume 103, Issue 3

Pages 183–264

Currently known as: American Journal of Medical Genetics Part A

  1. Editorial Comment

    1. Top of page
    2. Editorial Comment
    3. Research Articles
    4. Brief Clinical Report
    5. Research Articles
    6. Letter to the Editor
    7. Book Review
    1. Problems in the definition of holoprosencephaly (pages 183–187)

      M. Michael Cohen Jr

      Article first published online: 30 AUG 2001 | DOI: 10.1002/ajmg.1546

  2. Research Articles

    1. Top of page
    2. Editorial Comment
    3. Research Articles
    4. Brief Clinical Report
    5. Research Articles
    6. Letter to the Editor
    7. Book Review
    1. Psychological impact of news of genetic risk for Huntington disease (pages 188–192)

      Mardi J. Horowitz, Nigel P. Field, Andrea Zanko, Edward F. Donnelly, Charles Epstein and Frank Longo

      Article first published online: 22 AUG 2001 | DOI: 10.1002/ajmg.1538

    2. Minute supernumerary marker chromosomes identified in two patients with a related, larger pseudodicentric chromosome (pages 193–197)

      Gloria Tung, Susan M. Covert, Katherine L. Malabed, Monica M. Wohlferd, Karen P. Beckerman, James D. Goldberg and Philip D. Cotter

      Article first published online: 30 AUG 2001 | DOI: 10.1002/ajmg.1565

    3. Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: An inherited encephalopathy of childhood? (pages 198–206)

      Pekka Nokelainen, Hannu Heiskala, Raili Raininko, Taina Autti, Kari Wirtavuori, Anna-Maija Häkkinen and Jonathan Flint

      Article first published online: 22 AUG 2001 | DOI: 10.1002/ajmg.1536

    4. Descriptive epidemiology of isolated anal anomalies: A survey of 4.6 million births in Europe (pages 207–215)

      Alfred Cuschieri

      Article first published online: 20 AUG 2001 | DOI: 10.1002/ajmg.1532

    5. Decreased bone mineral density in Prader-Willi syndrome: Comparison with obese subjects (pages 216–222)

      Merlin G. Butler, Lawrence Haber, Ray Mernaugh, Michael G. Carlson, Ron Price and Irene D. Feurer

      Article first published online: 30 AUG 2001 | DOI: 10.1002/ajmg.1556

    6. Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome (pages 223–225)

      Małgorzata J.M. Nowaczyk, Victoria M. Siu, Patrycja A. Krakowiak and Forbes D. Porter

      Article first published online: 30 AUG 2001 | DOI: 10.1002/ajmg.1545

    7. Evidence of decreased risk of cancer in individuals with fragile X (pages 226–230)

      Søren Schultz-Pedersen, Henrik Hasle, Jørgen H. Olsen and Ursula Friedrich

      Article first published online: 17 AUG 2001 | DOI: 10.1002/ajmg.1533

    8. Direct duplication of 8p21.3→p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features (pages 231–234)

      Yao-Shan Fan, Victoria M. Siu, Jack H. Jung, S.A. Farrell and Gilbert B. Côté

      Article first published online: 17 AUG 2001 | DOI: 10.1002/ajmg.1534

  3. Brief Clinical Report

    1. Top of page
    2. Editorial Comment
    3. Research Articles
    4. Brief Clinical Report
    5. Research Articles
    6. Letter to the Editor
    7. Book Review
    1. Perinatal hypophosphatasia: Radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene (pages 235–240)

      Consolato Sergi, Etienne Mornet, Jochen Troeger and Theda Voigtlaender

      Article first published online: 30 AUG 2001 | DOI: 10.1002/ajmg.1541

  4. Research Articles

    1. Top of page
    2. Editorial Comment
    3. Research Articles
    4. Brief Clinical Report
    5. Research Articles
    6. Letter to the Editor
    7. Book Review
    1. Endothelial nitric oxide synthase gene (NOS3) variant and hypertension in pregnancy (pages 241–244)

      Gen Kobashi, Hideto Yamada, Kaori Ohta, Emi-Hirayama Kato, Yasuhiko Ebina and Seiichiro Fujimoto

      Article first published online: 17 AUG 2001 | DOI: 10.1002/ajmg.1535

  5. Letter to the Editor

    1. Top of page
    2. Editorial Comment
    3. Research Articles
    4. Brief Clinical Report
    5. Research Articles
    6. Letter to the Editor
    7. Book Review
    1. Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return (pages 245–248)

      Chia-Hwa Wu, Wuh-Liang Hwu, Jou-Kou Wang, Chainllie Young, Steven Shinn-Forng Peng and Meng-Fai Kuo

      Article first published online: 22 AUG 2001 | DOI: 10.1002/ajmg.1537

    2. Klinefelter syndrome and cutis verticis gyrata (pages 249–251)

      Kory Keller, Charles Williams and Brent Seagle

      Article first published online: 22 AUG 2001 | DOI: 10.1002/ajmg.1544

    3. Intermediate form of ablepharon–macrostomia syndrome with CNS abnormalities (pages 252–254)

      David J. Amor and Ravi Savarirayan

      Article first published online: 22 AUG 2001 | DOI: 10.1002/ajmg.1540

    4. New MCAD gene mutation, not previously reported in other nations, found at A1161G in Turkish population (pages 255–256)

      Nilüfer Bozkurt, Oguz Öztürk and Turgay Isbir

      Article first published online: 30 AUG 2001 | DOI: 10.1002/ajmg.1542

    5. Connections between traditional Chinese medicine and congenital syndromes (pages 257–262)

      Jesse Li-Ling

      Article first published online: 30 AUG 2001 | DOI: 10.1002/ajmg.1562

  6. Book Review

    1. Top of page
    2. Editorial Comment
    3. Research Articles
    4. Brief Clinical Report
    5. Research Articles
    6. Letter to the Editor
    7. Book Review
    1. From chance to choice: Genetics and justice, by Allen Buchanan, Dan W. Brock, Norman Daniels, and Daniel Wikler (pages 263–264)

      F. Clarke Fraser

      Article first published online: 22 AUG 2001 | DOI: 10.1002/ajmg.1539

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