American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 September 2003

Volume 122A, Issue 1

Pages 1–93

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Review Articles
    4. Clinical Reports
    5. Correspondence
    1. PEHO and PEHO-like syndromes: Report of five Australian cases (pages 6–12)

      M.J. Field, P. Grattan-Smith, S.M. Piper, E.M. Thompson, E.A. Haan, M. Edwards, S. James, I. Wilkinson and L.C. Adès

      Article first published online: 13 MAY 2003 | DOI: 10.1002/ajmg.a.20216

    2. Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis (pages 13–23)

      D.Z. Loesch, R.M. Huggins, Q.M. Bui, A.K. Taylor, C. Pratt, J. Epstein and R.J. Hagerman

      Article first published online: 13 MAY 2003 | DOI: 10.1002/ajmg.a.20214

    3. Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome (pages 24–29)

      Fernanda A.A. Langius, Hans R. Waterham, Gerrit Jan Romeijn, Wendy Oostheim, Martina M.J. de Barse, Lambertus Dorland, Marinus Duran, Frits A. Beemer, Ronald J.A. Wanders and Bwee Tien Poll-The

      Article first published online: 23 MAY 2003 | DOI: 10.1002/ajmg.a.20207

    4. The Simpson–Golabi–Behmel gene, GPC3, is not involved in sporadic Wilms tumorigenesis (pages 30–36)

      Tanya L. Gillan, Rhiannon Hughes, Roseline Godbout and Paul E. Grundy

      Article first published online: 13 MAY 2003 | DOI: 10.1002/ajmg.a.20279

    5. Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24 (pages 37–41)

      Lucie Verot, Nicole Alloisio, Laurette Morlé, Muriel Bozon, Renaud Touraine, Henri Plauchu and Patrick Edery

      Article first published online: 6 MAY 2003 | DOI: 10.1002/ajmg.a.20221

    6. Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome (pages 42–45)

      Bernd Wollnik, Turgut Tukel, Oya Uyguner, Asadollah Ghanbari, Hulya Kayserili, Melike Emiroglu and Memnune Yuksel-Apak

      Article first published online: 15 MAY 2003 | DOI: 10.1002/ajmg.a.20260

    7. A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33 (pages 46–50)

      Carolina Sismani, Maria Syrrou, Kyproula Christodoulou, Ben Hamel, Jamel Chelly, Helger G. Yntema, Hans van Bokhoven, Meropi Tzoufi, Ioannis Georgiou and Philippos C. Patsalis

      Article first published online: 15 MAY 2003 | DOI: 10.1002/ajmg.a.20284

    8. X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families (pages 51–55)

      Átila F. Visinoni, Ricardo L.R. de Souza, Newton Freire-Maia, Thomaz R. Gollop and Eleidi A. Chautard-Freire-Maia

      Article first published online: 23 MAY 2003 | DOI: 10.1002/ajmg.a.20276

    9. Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome (pages 56–58)

      R.L.L. Ferreira de Lima, D. Moretti-Ferreira, A. Richieri-Costa and J.C. Murray

      Article first published online: 15 MAY 2003 | DOI: 10.1002/ajmg.a.20270

    10. Relative prevalence of malformations at birth among different religious communities in Israel (pages 59–62)

      Joël Zlotogora, Ziona Haklai, Naama Rotem, Moriah Georgi, Itzhak Berlovitz, Alex Leventhal and Yona Amitai

      Article first published online: 15 MAY 2003 | DOI: 10.1002/ajmg.a.20229

  2. Review Articles

    1. Top of page
    2. Research Articles
    3. Review Articles
    4. Clinical Reports
    5. Correspondence
    1. Rib defects in patterns of multiple malformations: A retrospective review and phenotypic analysis of 47 cases (pages 63–69)

      Duangrurdee Wattanasirichaigoon, Chitra Prasad, Gretchen Schneider, Jane A. Evans and Bruce R. Korf

      Article first published online: 8 MAY 2003 | DOI: 10.1002/ajmg.a.20241

  3. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Review Articles
    4. Clinical Reports
    5. Correspondence
    1. Patient with Kabuki syndrome and acute leukemia (pages 76–79)

      Sabine Scherer, Ursel Theile, Vera Beyer, Rudolf Ferrari, Christiane Kreck and Manfred Rister

      Article first published online: 23 MAY 2003 | DOI: 10.1002/ajmg.a.20261

    2. Genitopatellar syndrome: Expanding the phenotype (pages 80–83)

      Caroline A. Lifchez, William J. Rhead, Steven R. Leuthner and Mark S. Lubinsky

      Article first published online: 29 MAY 2003 | DOI: 10.1002/ajmg.a.20268

  4. Correspondence

    1. Top of page
    2. Research Articles
    3. Review Articles
    4. Clinical Reports
    5. Correspondence
    1. Expanding the limits of the Fryns syndrome (pages 89–90)

      Kevin E. Bove and Robert D. Steiner

      Article first published online: 9 JUN 2003 | DOI: 10.1002/ajmg.a.20344

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