American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 August 2004

Volume 129A, Issue 1

Pages 1–103

  1. Rapid Publications

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley–Bixler syndrome (pages 1–7)

      Deborah L. Cragun, Sharon K. Trumpy, Cedric H.L. Shackleton, Richard I. Kelley, Nancy D. Leslie, Neil P. Mulrooney and Robert J. Hopkin

      Article first published online: 2 JUN 2004 | DOI: 10.1002/ajmg.a.30170

  2. Research Articles

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency (pages 13–15)

      Jacqueline A. Cutler, Michael J. Mitchell, Mark P. Smith and Geoffrey F. Savidge

      Article first published online: 25 MAY 2004 | DOI: 10.1002/ajmg.a.30162

    2. Turner syndrome: Evaluation of prenatal diagnosis in 19 European registries (pages 16–20)

      Neus Baena, C. De Vigan, E. Cariati, M. Clementi, C. Stoll, M.R. Caballín and M. Guitart

      Article first published online: 25 MAY 2004 | DOI: 10.1002/ajmg.a.30092

    3. Phenotypic and molecular variability of the holoprosencephalic spectrum (pages 21–24)

      Leila Lazaro, Christéle Dubourg, Laurent Pasquier, Franck Le Duff, Martine Blayau, Marie-Renée Durou, Armelle Thomas de la Pintière, Céline Aguilella, Véronique David and Sylvie Odent

      Article first published online: 25 MAY 2004 | DOI: 10.1002/ajmg.a.30110

    4. Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion (pages 29–34)

      Amy Kao, Juliana Mariani, Donna M. McDonald-McGinn, Melissa K. Maisenbacher, Amy R. Brooks-Kayal, Elaine H. Zackai and David R. Lynch

      Article first published online: 7 JUN 2004 | DOI: 10.1002/ajmg.a.30133

    5. Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations (pages 35–38)

      Akihiko Mabuchi, Shigeki Momohara, Hirofumi Ohashi, Yoshio Takatori, Nobuhiko Haga, Gen Nishimura and Shiro Ikegawa

      Article first published online: 7 JUN 2004 | DOI: 10.1002/ajmg.a.30164

    6. Does bilirubin protect against hemochromatosis gene (HFE) related mortality? (pages 39–43)

      Behrooz Z. Alizadeh, Omer T. Njajou, Jeanine J. Houwing-Duistermaat, Gerard de Jong, Jeannette M. Vergeer, Albert Hofman, Huibert A.P. Pols and Cornelia M. van Duijn

      Article first published online: 7 JUN 2004 | DOI: 10.1002/ajmg.a.30163

    7. parkin mutation analysis in clinic patients with early-onset Parkinson's disease (pages 44–50)

      P. Poorkaj, J. G. Nutt, D. James, S. Gancher, T. D. Bird, E. Steinbart, G. D. Schellenberg and Haydeh Payami

      Article first published online: 7 JUN 2004 | DOI: 10.1002/ajmg.a.30157

    8. The 11q terminal deletion disorder: A prospective study of 110 cases (pages 51–61)

      Paul D. Grossfeld, Teresa Mattina, Zona Lai, Remi Favier, Ken Lyons Jones, Finbarr Cotter and Christopher Jones

      Article first published online: 11 JUN 2004 | DOI: 10.1002/ajmg.a.30090

    9. Endocrine abnormalities in patients with Jacobsen (11q−) syndrome (pages 62–63)

      Marjan Haghi, Asheesh Dewan, Kenneth Lee Jones, Richard Reitz, Christopher Jones and Paul Grossfeld

      Article first published online: 11 JUN 2004 | DOI: 10.1002/ajmg.a.30248

  3. Clinical Reports

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature (pages 64–68)

      D. Geneviève, J. Amiel, G. Viot, M. Le Merrer, D. Sanlaville, A. Urtizberea, M. Gérard, A. Munnich, V. Cormier-Daire and Stanislas Lyonnet

      Article first published online: 11 JUN 2004 | DOI: 10.1002/ajmg.a.30144

    2. A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: Genetic heterogeneity of McKusick–Kaufman syndrome or a unique syndrome? (pages 69–72)

      Anne M. Slavotinek, Amalia Dutra, Dzifa Kpodzo, Evgenia Pak, Takaya Nakane, Joyce Turner, Margo Whiteford, Leslie G. Biesecker and Pamela Stratton

      Article first published online: 23 MAR 2004 | DOI: 10.1002/ajmg.a.30071

    3. Pregnancy in a healthy woman with untreated citrullinemia (pages 77–82)

      Murray A. Potter, Susan Zeesman, Barbara Brennan, Keiko Kobayashi, Hong-Zhi Gao, Ayako Tabata, Takeyori Saheki and Donald T. Whelan

      Article first published online: 25 MAY 2004 | DOI: 10.1002/ajmg.a.20559

    4. Choanal atresia associated with prenatal methimazole exposure: Three new patients (pages 83–86)

      P. Barbero, C. Ricagni, G. Mercado, R. Bronberg and M. Torrado

      Article first published online: 25 MAY 2004 | DOI: 10.1002/ajmg.a.20668

    5. Czech Dysplasia Metatarsal Type (pages 87–91)

      K. Kozlowski, I. Marik, O. Marikova, D. Zemkova and M. Kuklik

      Article first published online: 10 JUN 2004 | DOI: 10.1002/ajmg.a.30132

  4. Research Letters

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia (pages 92–94)

      M.E. Gallardo, S. Rodríguez de Córdoba, A.S. Schneider, M.A. Dwyer, C. Ayuso and P. Bovolenta

      Article first published online: 7 JUN 2004 | DOI: 10.1002/ajmg.a.30126

    2. De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder (pages 98–100)

      Peter M. Kroisel, Christian Windpassinger, Klaus Wagner, Erwin Petek, John B. Vincent, Stephen W. Scherer, Georg Spiel, Vida Artner and Erich Valtiner

      Article first published online: 11 JUN 2004 | DOI: 10.1002/ajmg.a.30150

  5. Book Reviews

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Book Review (page 101)

      Sui Mei Chiu and Jennifer Fitzpatrick

      Article first published online: 10 JUN 2004 | DOI: 10.1002/ajmg.a.30158

  6. Correspondence

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence

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