American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 May 2003

Volume 119A, Issue 1

Pages 1–95

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Research Letter
    8. Correspondence
    9. Editorial Comment
    10. Correspondence
    1. Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS) (pages 1–8)

      Diana Baralle, Chris Mattocks, Kamini Kalidas, Frances Elmslie, Joanne Whittaker, Melissa Lees, Nicola Ragge, Michael A. Patton, Robin M. Winter and Charles ffrench-Constant

      Version of Record online: 21 MAR 2003 | DOI: 10.1002/ajmg.a.20023

    2. High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region (pages 9–14)

      Cong-Yi Wang, Abodoreza Davoodi-Semiromi, Jing-Da Shi, Ping Yang, Yi-Qun Huang, Jose A. G. Agundez, Jose M. Moran, Bernardo Ochoa, Bobbilynn Hawkins-Lee and Jin-Xiong She

      Version of Record online: 15 APR 2003 | DOI: 10.1002/ajmg.a.20042

    3. Evidence of neuronal migration disorders in Knobloch syndrome: Clinical and molecular analysis of two novel families (pages 15–19)

      Susana E. Kliemann, Ricardo T.L. Waetge, Oscar T. Suzuki, M. Rita Passos-Bueno and Sérgio Rosemberg

      Version of Record online: 19 MAR 2003 | DOI: 10.1002/ajmg.a.20070

    4. Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida (pages 20–25)

      Ana Beatriz Alvarez Perez, Vânia D'Almeida, Naja Vergani, Allan C. de Oliveira, Fernanda Teresa de Lima and Decio Brunoni

      Version of Record online: 11 DEC 2002 | DOI: 10.1002/ajmg.a.10059

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Research Letter
    8. Correspondence
    9. Editorial Comment
    10. Correspondence
    1. X-inactivation pattern in multiple tissues from two leber's hereditary optic neuropathy (LHON) patients (pages 37–40)

      Elena Pegoraro, Andrea Vettori, Maria L. Valentino, Annamaria Molon, Maria L. Mostacciuolo, Neil Howell and Valerio Carelli

      Version of Record online: 16 JAN 2003 | DOI: 10.1002/ajmg.a.10211

  3. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Research Letter
    8. Correspondence
    9. Editorial Comment
    10. Correspondence
    1. Twin brothers with MIDAS syndrome and XX karyotype (pages 47–49)

      A. Anguiano, X. Yang, J.K. Felix and J.J. Hoo

      Version of Record online: 11 DEC 2002 | DOI: 10.1002/ajmg.a.10172

  4. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Research Letter
    8. Correspondence
    9. Editorial Comment
    10. Correspondence
    1. Macrodystrophia lipomatosa of the feet and subcutaneous lipomas (pages 63–65)

      S.E. Aydos, S. Fitoz and I. Bökesoy

      Version of Record online: 15 JAN 2003 | DOI: 10.1002/ajmg.a.10179

    2. Long-term survival in a patient with del(18)(q12.2q21.1) (pages 66–70)

      Brad T. Tinkle, Carol A. Christianson, Elizabeth K. Schorry, Thomas Webb and Robert J. Hopkin

      Version of Record online: 8 JAN 2003 | DOI: 10.1002/ajmg.a.10217

    3. Chudley-McCullough syndrome: Expanded phenotype and review of the literature (pages 71–76)

      Katherine Oelrich Welch, Mustafa Tekin, Walter E. Nance, Susan H. Blanton, Kathleen S. Arnos and Arti Pandya

      Version of Record online: 4 MAR 2003 | DOI: 10.1002/ajmg.a.10180

    4. Lambert–Eaton Myasthenic syndrome in a child with an autoimmune phenotype (pages 77–80)

      William H. Hoffman, Sandra W. Helman, Elizabeth Sekul, James E. Carroll and Roger A. Vega

      Version of Record online: 3 FEB 2003 | DOI: 10.1002/ajmg.a.20022

  5. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Research Letter
    8. Correspondence
    9. Editorial Comment
    10. Correspondence
    1. Hypochondroplasia and stature within normal limits: Another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene (pages 81–84)

      Christel Thauvin-Robinet, Laurence Faivre, Patricia Lewin, Jean-Vital De Monléon, Catherine François, Frédéric Huet, Jean-François Couailler, Ana Bélinda Campos-Xavier, Jacky Bonaventure and Martine Le Merrer

      Version of Record online: 11 MAR 2003 | DOI: 10.1002/ajmg.a.10238

    2. Trisomy 8 mosaicism in a patient born to a mother with 47,XXX (pages 85–86)

      Anna Lisa Nucaro, Antonio Cao, Antonella Faedda and Giangiorgio Crisponi

      Version of Record online: 19 MAR 2003 | DOI: 10.1002/ajmg.a.20086

    3. “Angel-shaped phalanx” in a boy with oromandibular-limb hypogenesis (pages 87–88)

      Gianni Camera, Gianluca Ferrari, Mario Igor Rossello and Andrea Camera

      Version of Record online: 17 JAN 2003 | DOI: 10.1002/ajmg.a.10200

  6. Research Letter

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Research Letter
    8. Correspondence
    9. Editorial Comment
    10. Correspondence
    1. Participation by clinical geneticists in genetic advocacy groups (pages 89–92)

      Angela E. Lin, Sharon F. Terry, Barbara Lerner, Rebecca Anderson and Mira Irons

      Version of Record online: 21 MAR 2003 | DOI: 10.1002/ajmg.a.20027

  7. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Research Letter
    8. Correspondence
    9. Editorial Comment
    10. Correspondence
    1. Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports (page 93)

      Art Aylsworth, John M. Graham Jr., Judith G. Hall, H. Eugene Hoyme, Kenneth Lyons Jones and Roger E. Stevenson

      Version of Record online: 8 JAN 2003 | DOI: 10.1002/ajmg.a.10185

  8. Editorial Comment

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Research Letter
    8. Correspondence
    9. Editorial Comment
    10. Correspondence
  9. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Research Letter
    8. Correspondence
    9. Editorial Comment
    10. Correspondence
    1. Causality and the need of nose length to height curves (page 95)

      André Michael Toschke

      Version of Record online: 11 MAR 2003 | DOI: 10.1002/ajmg.a.20050

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