American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 October 2007

Volume 143A, Issue 19

Pages 2221–2356

  1. New Syndrome

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. You have free access to this content
  2. Research Articles

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. You have free access to this content
      Weight for age charts for children with achondroplasia (pages 2227–2235)

      J.E. Hoover-Fong, J. McGready, K.J. Schulze, H. Barnes and C.I. Scott

      Version of Record online: 31 AUG 2007 | DOI: 10.1002/ajmg.a.31873

    2. Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2–Xq28 (pages 2236–2241)

      David J. Amor, Hans-Henrik M. Dahl, Melanie Bahlo and Agnes Bankier

      Version of Record online: 28 AUG 2007 | DOI: 10.1002/ajmg.a.31917

    3. The origin of trisomy 13 (pages 2242–2248)

      Heather E. Hall, E. Ricky Chan, Andrew Collins, LuAnn Judis, Sofia Shirley, Urvashi Surti, Lori Hoffner, Annette E. Cockwell, Patricia A. Jacobs and Terry J. Hassold

      Version of Record online: 12 SEP 2007 | DOI: 10.1002/ajmg.a.31913

    4. The origin of trisomy 22: Evidence for acrocentric chromosome-specific patterns of nondisjunction (pages 2249–2255)

      Heather E. Hall, Urvashi Surti, Lori Hoffner, Sofia Shirley, Eleanor Feingold and Terry Hassold

      Version of Record online: 17 AUG 2007 | DOI: 10.1002/ajmg.a.31918

    5. Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome (pages 2256–2260)

      Randi J. Hagerman, Sarah M. Coffey, Ricardo Maselli, Kultida Soontarapornchai, James A. Brunberg, Maureen A. Leehey, Lin Zhang, Louise W. Gane, Grace Fenton-Farrell, Flora Tassone and Paul J. Hagerman

      Version of Record online: 28 AUG 2007 | DOI: 10.1002/ajmg.a.31920

    6. Social, emotional, and behavioral functioning of children with NF1 (pages 2261–2273)

      Robert B. Noll, Jennifer Reiter-Purtill, Bartlett D. Moore, Elizabeth K. Schorry, Anne M. Lovell, Kathryn Vannatta and Cynthia A. Gerhardt

      Version of Record online: 28 AUG 2007 | DOI: 10.1002/ajmg.a.31923

    7. Risk factors for isolated biliary atresia, National Birth Defects Prevention Study, 1997–2002 (pages 2274–2284)

      Natalie S. The, Margaret A. Honein, Alissa R. Caton, Cynthia A. Moore, Anna Maria Siega-Riz and Charlotte M. Druschel

      Version of Record online: 28 AUG 2007 | DOI: 10.1002/ajmg.a.31926

    8. NAT2 variation and idiopathic talipes equinovarus (clubfoot) (pages 2285–2291)

      Jacqueline T. Hecht, Audrey Ester, Allison Scott, Carol A. Wise, David M. Iovannisci, Edward J. Lammer, Peter H. Langlois and Susan H. Blanton

      Version of Record online: 28 AUG 2007 | DOI: 10.1002/ajmg.a.31927

    9. Diaphanospondylodysostosis: Six new cases and exclusion of the candidate genes, PAX1 and MEOX1 (pages 2292–2302)

      Nithiwat Vatanavicharn, John M. Graham Jr, Cynthia J. Curry, Samuel Pepkowitz, Ralph S. Lachman, David L. Rimoin and William R. Wilcox

      Version of Record online: 31 AUG 2007 | DOI: 10.1002/ajmg.a.31934

    10. Fetal anticonvulsant syndromes and polymorphisms in MTHFR, MTR, and MTRR (pages 2303–2311)

      John Dean, Zoe Robertson, V. Reid, Q. Diana Wang, Hazel Hailey, Sue Moore, A. Dee Rasalam, Peter Turnpenny, David Lloyd, Amanda Cardy, Duncan Shaw and Julian Little

      Version of Record online: 12 SEP 2007 | DOI: 10.1002/ajmg.a.31914

    11. WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations (pages 2312–2320)

      Mohnish Suri, Peter Kelehan, David O'Neill, Shantala Vadeyar, Judith Grant, S. Faisal Ahmed, John Tolmie, Emma McCann, Wayne Lam, Shirley Smith, David FitzPatrick, Nicholas D. Hastie and William Reardon

      Version of Record online: 12 SEP 2007 | DOI: 10.1002/ajmg.a.31924

  3. Clinical Reports

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Craniofacioskeletal syndrome: An X-linked dominant disorder with early lethality in males (pages 2321–2329)

      Roger E. Stevenson, Cam K. Brasington, Cindy Skinner, Richard J. Simensen, J. Edward Spence, Shelli Kesler, Allan L. Reiss and Charles E. Schwartz

      Version of Record online: 12 SEP 2007 | DOI: 10.1002/ajmg.a.31928

    2. Dominantly-inherited lop ears (pages 2330–2333)

      Alexander K.C. Leung, Albert Y.F. Kong, W. Lane M. Robson and D. Ross McLeod

      Version of Record online: 31 AUG 2007 | DOI: 10.1002/ajmg.a.31933

  4. Research Letters

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Pure segmental trisomy 1q42-qter in a boy with a severe phenotype (pages 2339–2342)

      Antonio Percesepe, Licia Lugli, Mauro Pierluigi, Simona Cavani, Michela Malacarne, Maria Federica Roversi, Fabrizio Ferrari and Antonino Forabosco

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31890

    2. Fetal trisomy 5 mosaicism: Case report and literature review (pages 2343–2346)

      Nicoletta Villa, Serena Redaelli, Cesarina Borroni, Carla Colombo, Nadia Roncaglia, Elena Sala, Francesca Crosti, Anna Cappellini and Leda Dalprà

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31909

    3. Cleft lip with or without cleft palate: Frequency in different ethnic populations from the UCSF craniofacial clinic (pages 2347–2351)

      E.W.Y. Hsieh, R.-F. Yeh, S. Oberoi, K. Vargervik and A.M. Slavotinek

      Version of Record online: 28 AUG 2007 | DOI: 10.1002/ajmg.a.31922

  5. Book Reviews

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Book review (page 2352)

      W.L. Nyhan

      Version of Record online: 31 AUG 2007 | DOI: 10.1002/ajmg.a.31939

  6. Correspondence

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Further refinement of the candidate region for monosomy 9p syndrome (pages 2353–2356)

      Brigitte H.W. Faas, Nicole de Leeuw, Hanneke Mieloo, Jos Bruinenberg and Bert B.A. de Vries

      Version of Record online: 12 SEP 2007 | DOI: 10.1002/ajmg.a.31961

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