American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 November 2005

Volume 139A, Issue 1

Pages 1–56

  1. Editorial Comments

    1. Top of page
    2. Editorial Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Corrigenda
    7. Errata
  2. Research Articles

    1. Top of page
    2. Editorial Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Corrigenda
    7. Errata
    1. Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome (pages 2–8)

      K.M. Summers, M. Nataatmadja, D. Xu, M.J. West, J.J. McGill, C. Whight, A. Colley and L.C. Adès

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30981

    2. Genetic heterogeneity of deafness phenotypes linked to DFNA4 (pages 9–12)

      Tao Yang, Markus Pfister, Nikolaus Blin, Hans P. Zenner, Carsten M. Pusch and Richard J.H. Smith

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30989

    3. Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf (pages 13–18)

      Xing Cheng, Li Li, Shanda Brashears, Thierry Morlet, San San Ng, Charles Berlin, Linda Hood and Bronya Keats

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30929

    4. Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1) (pages 19–24)

      Susanne Zahn, Antje Ehrbrecht, Kristin Bosse, Vera Kalscheuer, Peter Propping, Gesa Schwanitz, Beate Albrecht and Hartmut Engels

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30995

  3. Clinical Reports

    1. Top of page
    2. Editorial Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Corrigenda
    7. Errata
    1. Asplenia in ATR-X syndrome: A second report (pages 37–39)

      Ronan T. Leahy, Roy K. Philip, Richard J. Gibbons, Chris Fisher, Mohnish Suri and William Reardon

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30990

    2. Familial gigantism caused by an NSD1 mutation (pages 40–44)

      Mieke M. van Haelst, Jeannette J.M. Hoogeboom, Genevieve Baujat, Hennie T. Brüggenwirth, Ingrid Van de Laar, Kim Coleman, Nazneen Rahman, Martinus F. Niermeijer, Sten L.S. Drop and Peter J. Scambler

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30973

  4. Research Letters

    1. Top of page
    2. Editorial Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Corrigenda
    7. Errata
    1. A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP) (pages 45–47)

      Liesbeth Spruijt, Pieter Verdyck, Wim Van Hul, Wim Wuyts and Christine de Die-Smulders

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30923

    2. Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia (pages 48–49)

      Jari Honkaniemi, Juha-Pekka Kalkkila, Pasi Koivisto, Veikko Kähärä, Terho Latvala and Kalle Simola

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30925

    3. A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine (pages 50–51)

      Andreas Holzinger, Rashmi A. Mittal, Walter Kachel, Helga Priessmann, Markus Hammel, Stephan Ihrler, Holger Till and Hans-Georg Münch

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30975

    4. Kallmann syndrome in a 47,XXX patient (pages 52–53)

      E.P.M. Corssmit, S.B. Seminara, N. Pitteloud and E. Fliers

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30996

  5. Corrigenda

    1. Top of page
    2. Editorial Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Corrigenda
    7. Errata
    1. You have free access to this content
      Case reports of oculofaciocardiodental syndrome with unusual dental findings (Am J Med Genet 136A: 275–277, 2005) (page 54)

      Snehlata Oberoi, Alison E. Winder, Jennifer Johnston, Karin Vargervik and Anne M. Slavotinek

      Version of Record online: 20 OCT 2005 | DOI: 10.1002/ajmg.a.30936

  6. Errata

    1. Top of page
    2. Editorial Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Corrigenda
    7. Errata
    1. You have free access to this content
      Adult phenotype in Costello syndrome (Am J Med Genet 136A: 128–135, 2005) (page 55)

      Susaan M. White, J.M. Graham Jr., B. Kerr, K. Gripp, R. Weksberg, C. Cytrynbaum, J.L. Reeder, F.J. Stewart, M. Edwards, M. Wilson and A. Bankier

      Version of Record online: 20 OCT 2005 | DOI: 10.1002/ajmg.a.30933

    2. You have free access to this content
      Parkin mutation analysis in clinic patients with early-onset Parkinson's disease (Am J Med Genet 129A: 44–50, 2004) (page 56)

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

      Version of Record online: 20 OCT 2005 | DOI: 10.1002/ajmg.a.30937

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