American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 June 2002

Volume 110, Issue 2

Pages 95–193

Currently known as: American Journal of Medical Genetics Part A

  1. Rapid Publication

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Clinical Report
    5. Clinial Report
    6. Clinical Report
    7. Research Letter
    8. Historical Review
    9. Correspondence
    10. Erratum
    1. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia (pages 95–102)

      Richard I. Kelley, Lisa E. Kratz, Rivka L. Glaser, Michael L. Netzloff, Linda Miller Wolf and Ethylin W. Jabs

      Article first published online: 25 APR 2002 | DOI: 10.1002/ajmg.10510

  2. Research Articles

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Clinical Report
    5. Clinial Report
    6. Clinical Report
    7. Research Letter
    8. Historical Review
    9. Correspondence
    10. Erratum
    1. Novel mutation in the Δ-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome (pages 103–108)

      Marjan M. Nezarati, Judith Loeffler, Grace Yoon, Linda MacLaren, Ernest Fung, Floyd Snyder, Gerd Utermann and Gail E. Graham

      Article first published online: 29 APR 2002 | DOI: 10.1002/ajmg.10367

    2. HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg (pages 116–121)

      Klaus Wilbrandt Kjaer, Jess Hedeboe, Merete Bugge, Claus Hansen, Karen Friis-Henriksen, Maria Baeksted Vestergaard, Niels Tommerup and John M. Opitz

      Article first published online: 29 APR 2002 | DOI: 10.1002/ajmg.10397

    3. Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation (pages 131–135)

      Amos Etzioni, Laura Sturla, Anthony Antonellis, Eric D. Green, Ruth Gershoni-Baruch, Patricia M. Berninsone, Carlos B. Hirschberg and Michela Tonetti

      Article first published online: 29 APR 2002 | DOI: 10.1002/ajmg.10423

    4. Genetic analysis of patients with the Saethre-Chotzen phenotype (pages 136–143)

      Kathy Chun, Ahmad S. Teebi, Jack H. Jung, Shelley Kennedy, Rachel Laframboise, Wendy S. Meschino, Kazuhiko Nakabayashi, Stephen W. Scherer, Peter N. Ray and Ikuko Teshima

      Article first published online: 1 MAY 2002 | DOI: 10.1002/ajmg.10400

    5. A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population (pages 144–152)

      Karen Staehling-Hampton, Sean Proll, Bryan W. Paeper, Lei Zhao, Patrick Charmley, Analisa Brown, Jessica C. Gardner, David Galas, Randall C. Schatzman, Peter Beighton, Socrates Papapoulos, Herman Hamersma and Mary E. Brunkow

      Article first published online: 16 APR 2002 | DOI: 10.1002/ajmg.10401

    6. Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation (pages 153–157)

      Deborah J. Shears, Encarna Guillen-Navarro, Manuel Sempere-Miralles, Rosario Domingo-Jimenez, Peter J. Scambler and Robin M. Winter

      Article first published online: 23 MAY 2002 | DOI: 10.1002/ajmg.10421

    7. Complete SHOX deficiency causes Langer mesomelic dysplasia (pages 158–163)

      Andrew R. Zinn, Fanglin Wei, Ling Zhang, Frederick F. Elder, Charles I. Scott Jr, Pia Marttila and Judith L. Ross

      Article first published online: 29 APR 2002 | DOI: 10.1002/ajmg.10422

  3. Clinical Report

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Clinical Report
    5. Clinial Report
    6. Clinical Report
    7. Research Letter
    8. Historical Review
    9. Correspondence
    10. Erratum
    1. Giant platelets in a case of deletion 11q24-qter confirmed by fluorescence in situ hybridization (pages 170–175)

      Anatole Laleye, Daniele Delneste, Olivier Pradier, Christine Hans, Raphaël Darboux and Gonul Ogur

      Article first published online: 25 APR 2002 | DOI: 10.1002/ajmg.10418

  4. Clinial Report

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Clinical Report
    5. Clinial Report
    6. Clinical Report
    7. Research Letter
    8. Historical Review
    9. Correspondence
    10. Erratum
    1. “Apple-peel” intestinal atresia, ocular anomalies, and microcephaly syndrome: Brain magnetic resonance imaging study (pages 176–178)

      Carlo Bellini, Massimo Mazzella, Cesare Arioni, Maria Paola Fondelli and Giovanni Serra

      Article first published online: 29 APR 2002 | DOI: 10.1002/ajmg.10392

  5. Clinical Report

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Clinical Report
    5. Clinial Report
    6. Clinical Report
    7. Research Letter
    8. Historical Review
    9. Correspondence
    10. Erratum
    1. Association of external auditory canal atresia, vertical talus, and hypertelorism: Confirmation of rasmussen syndrome (pages 179–181)

      Sophie Julia, Jean Michel Pedespan, Philippe Boudard, Richard Barbier, Isabelle Gavilan-Cellie, Jean François Chateil and Didier Lacombe

      Article first published online: 25 APR 2002 | DOI: 10.1002/ajmg.10433

  6. Research Letter

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Clinical Report
    5. Clinial Report
    6. Clinical Report
    7. Research Letter
    8. Historical Review
    9. Correspondence
    10. Erratum
  7. Historical Review

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Clinical Report
    5. Clinial Report
    6. Clinical Report
    7. Research Letter
    8. Historical Review
    9. Correspondence
    10. Erratum
    1. You have free access to this content
  8. Correspondence

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Clinical Report
    5. Clinial Report
    6. Clinical Report
    7. Research Letter
    8. Historical Review
    9. Correspondence
    10. Erratum
  9. Erratum

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Clinical Report
    5. Clinial Report
    6. Clinical Report
    7. Research Letter
    8. Historical Review
    9. Correspondence
    10. Erratum
    1. You have free access to this content

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