American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 December 2003

Volume 123A, Issue 3

Pages 211–316

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Reports
    5. Research Letters
    6. Review Article
    7. Correspondence
    1. Phenotypic abnormalities: Terminology and classification (pages 211–230)

      Johannes H.M. Merks, Clara D.M. van Karnebeek, Hubert N. Caron and Raoul C.M. Hennekam

      Version of Record online: 29 MAY 2003 | DOI: 10.1002/ajmg.a.20249

    2. X chromosome inactivation patterns in Russell–Silver syndrome patients and their mothers (pages 231–235)

      Christy L. Beever, Maria S. Peñaherrera, Sylvie Langlois and Wendy R. Robinson

      Version of Record online: 9 JUN 2003 | DOI: 10.1002/ajmg.a.20317

    3. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome (pages 236–242)

      Jennifer J. Johnston, Isabelle Olivos-Glander, Joyce Turner, Kyrieckos Aleck, Lynne M. Bird, Lakshmi Mehta, R. Neil Schimke, Heidi Heilstedt, J. Edward Spence, Jan Blancato and Leslie G. Biesecker

      Version of Record online: 29 SEP 2003 | DOI: 10.1002/ajmg.a.20318

    4. Unreported manifestations in two Dutch families with Bartsocas–Papas syndrome (pages 243–248)

      Hermine E. Veenstra-Knol, Arianne Kleibeuker, Albertus Timmer, Leo P. ten Kate and Anthonie J. van Essen

      Version of Record online: 9 JUN 2003 | DOI: 10.1002/ajmg.a.20308

    5. Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association (pages 249–252)

      Jeffrey E. Ming, Karen L. Russell, Lynn Bason, Donna M. McDonald-McGinn and Elaine H. Zackai

      Version of Record online: 15 MAY 2003 | DOI: 10.1002/ajmg.a.20277

    6. RMRP mutations in Japanese patients with cartilage-hair hypoplasia (pages 253–256)

      Eiji Nakashima, Akihiko Mabuchi, Kenichi Kashimada, Toshikazu Onishi, Junwei Zhang, Hirofumi Ohashi, Gen Nishimura and Shiro Ikegawa

      Version of Record online: 13 MAY 2003 | DOI: 10.1002/ajmg.a.20281

    7. Expression of class μ glutathione-S-transferase in human liver and its association with hepatopathies (pages 257–260)

      V. Engracia, M.M.B.S. Leite, R.C. Pagotto, S. Zucoloto, C.A.A. Barbosa and M.A. Mestriner

      Version of Record online: 24 JUN 2003 | DOI: 10.1002/ajmg.a.20364

  2. Rapid Publication

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Reports
    5. Research Letters
    6. Review Article
    7. Correspondence
    1. Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b (pages 267–278)

      Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Lili Zhou, Brion S. Maher, Jean M. Silvestri, Mark E. Curran and Mary L. Marazita

      Version of Record online: 23 SEP 2003 | DOI: 10.1002/ajmg.a.20527

  3. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Reports
    5. Research Letters
    6. Review Article
    7. Correspondence
    1. Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9 (pages 279–284)

      Jennifer J.D. Morrissette, Ayala Laufer-Cahana, Livija Medne, Karen L. Russell, Charles P. Venditti, Rochelle Kline, Elaine H. Zackai and Nancy B. Spinner

      Version of Record online: 24 JUN 2003 | DOI: 10.1002/ajmg.a.20293

    2. Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions (pages 285–289)

      Helene Bruyere, Evica Rajcan-Separovic, J. Doyle, Tapio Pantzar and Sylvie Langlois

      Version of Record online: 3 JUN 2003 | DOI: 10.1002/ajmg.a.20228

    3. Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations (pages 290–295)

      Pia Höglund, Reetta Jalkanen, Eino Marttinen and Tiina Alitalo

      Version of Record online: 25 JUN 2003 | DOI: 10.1002/ajmg.a.20385

    4. Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype (pages 296–300)

      Barbara Leube, Frank Majewski, Jürgen Gebauer and Brigitte Royer-Pokora

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.20339

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      Costello syndrome and neurological abnormalities (pages 301–305)

      Marie-Ange Delrue, Jean-François Chateil, Benoit Arveiler and Didier Lacombe

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.20330

  4. Research Letters

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Reports
    5. Research Letters
    6. Review Article
    7. Correspondence
    1. Blount disease (tibia vara) in Bardet–Biedl syndrome (pages 306–308)

      András Tárnok, Zoltán Koós and István Domán

      Version of Record online: 21 AUG 2003 | DOI: 10.1002/ajmg.a.20357

    2. Evidence for systemic manifestations in cerebroretinal vasculopathy (page 309)

      Jens T. Siveke and Holger Schmid

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.20369

  5. Review Article

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Reports
    5. Research Letters
    6. Review Article
    7. Correspondence
    1. Incidence of the mucopolysaccharidoses in Western Australia (pages 310–313)

      John Nelson, June Crowhurst, Bill Carey and Lawrence Greed

      Version of Record online: 3 JUN 2003 | DOI: 10.1002/ajmg.a.20314

  6. Correspondence

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Reports
    5. Research Letters
    6. Review Article
    7. Correspondence
    1. How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene? (pages 314–315)

      Iris Scala, Maria P. Sperandeo, Valentina Fiorito, Generoso Andria and Gianfranco Sebastio

      Version of Record online: 31 JUL 2003 | DOI: 10.1002/ajmg.a.20331

    2. Multiple annotations for GCPII in the htgs database (page 316)

      Alexandre R. Vieira

      Version of Record online: 16 JUN 2003 | DOI: 10.1002/ajmg.a.20337

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