American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 April 2003

Volume 118A, Issue 1

Pages 1–101

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Personality profiles of children and adolescents with neurofibromatosis type 1 (pages 1–7)

      P. Prinzie, M.J. Descheemaeker, A. Vogels, T. Cleymans, G.J.T. Haselager, L.M.G. Curfs, W. Hellinckx, P. Onghena, E. Legius, C.F.M. van Lieshout and J.-P. Fryns

      Article first published online: 25 FEB 2003 | DOI: 10.1002/ajmg.a.10003

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      Further delineation of the behavioral and neurologic features in Costello syndrome (pages 8–14)

      Hiroshi Kawame, Mihoko Matsui, Kenji Kurosawa, Mari Matsuo, Mitsuo Masuno, Hirofumi Ohashi, Noboru Fueki, Kouki Aoyama, Yukiko Miyatsuka, Kaoru Suzuki, Akira Akatsuka, Yukikatsu Ochiai and Yoshimitsu Fukushima

      Article first published online: 27 JAN 2003 | DOI: 10.1002/ajmg.a.10236

    3. Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease (pages 15–24)

      Karen Woodward, Maria Cundall, Rodger Palmer, Robert Surtees, Robin M. Winter and Sue Malcolm

      Article first published online: 26 DEC 2002 | DOI: 10.1002/ajmg.a.10103

    4. Cytogenetic analysis of obsessive-compulsive disorder (OCD): Identification of a FRAXE fragile site (pages 25–28)

      Qing Wang, Yanghong Gu, James M. Ferguson, Qiuyun Chen, Scott Boatwright, James Gardiner, Cheryl Below, Janna Espinosa, David L. Nelson and Lisa G. Shaffer

      Article first published online: 17 JAN 2003 | DOI: 10.1002/ajmg.a.20001

    5. Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia (pages 35–42)

      Parimal Das, Mehreen Hai, Claire Elcock, Suzanne M. Leal, Donald T. Brown, Alan H. Brook and Pragna I. Patel

      Article first published online: 11 DEC 2002 | DOI: 10.1002/ajmg.a.10011

    6. Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathies (pages 43–48)

      Nicole Ravisé, Odile Dubourg, Sandrine Tardieu, Françoise Aurias, Monique Mercadiel, Philippe Coullin, Merle Ruberg, Martin Catala, Sylvie Lesourd, Alexis Brice and Eric LeGuern

      Article first published online: 17 JAN 2003 | DOI: 10.1002/ajmg.a.10190

    7. Shashi XLMR syndrome: Report of a second family (pages 49–51)

      Nelson H.C. Castro, Rita C. Stocco dos Santos, Retecher Nelson, Willy Beçak, Bernhard Hane, Charles J. Lindsey, Herbert A. Lubs, Roger E. Stevenson and Charles E. Schwartz

      Article first published online: 25 FEB 2003 | DOI: 10.1002/ajmg.a.10888

  2. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Satoyoshi syndrome in a caucasian girl improved with glucocorticoids—A clinical report (pages 52–54)

      Cláudia Rafaela Cecchin, Têmis Maria Félix, Richard B. Magalhães and Tânia Weber Furlanetto

      Article first published online: 23 JAN 2003 | DOI: 10.1002/ajmg.a.10037

  3. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen (pages 64–67)

      Simone M.E.A.A. Jap-A-Joe, Roelof-Jan Oostra, Mario Maas, Jaap Stoker and Chantal M.A.M. van der Horst

      Article first published online: 23 JAN 2003 | DOI: 10.1002/ajmg.a.10262

    2. A new patient with Lowry–Wood syndrome with mild phenotype (pages 68–70)

      Nicola Brunetti-Pierri, Daniele De Brasi, Shiro Ikegawa, Giovanni Camera, Generoso Andria and Gianfranco Sebastio

      Article first published online: 17 JAN 2003 | DOI: 10.1002/ajmg.a.20008

    3. Progressive osseous heteroplasia in the face of a child (pages 71–75)

      Russell A. Faust, Eileen M. Shore, Christopher E. Stevens, Meiqi Xu, Shefali Shah, C. Douglas Phillips and Frederick S. Kaplan

      Article first published online: 17 JAN 2003 | DOI: 10.1002/ajmg.a.10170

  4. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Leukodystrophy associated with oligodontia in a large inbred family: Fortuitous association or new entity? (pages 76–81)

      Salim Atrouni, Antoine Darazé, Jean Tamraz, Antoine Cassia, Catherine Caillaud and André Mégarbané

      Article first published online: 25 NOV 2002 | DOI: 10.1002/ajmg.a.10019

  5. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history (pages 90–95)

      Brad T. Tinkle, Martha E. Walker, Ruthann I. Blough-Pfau, Howard M. Saal and Robert J. Hopkin

      Article first published online: 9 JAN 2003 | DOI: 10.1002/ajmg.a.10216

  6. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. One Froggy Evening (pages 96–98)

      M. Michael Cohen Jr.

      Article first published online: 7 OCT 2002 | DOI: 10.1002/ajmg.a.10887

  7. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Bilateral Poland anomaly: Does it exist? (page 101)

      Christo Dimitrov Shipkov and Yourii Konstantinov Anastassov

      Article first published online: 12 DEC 2002 | DOI: 10.1002/ajmg.a.10030

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