American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

30 January 2003

Volume 116A, Issue 3

Pages 215–314

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Editorls Note
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Articles
    9. Research Letters
    10. Research Letter
    11. Research Letters
    1. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia (pages 215–221)

      Lisa A. Schimmenti, June de la Cruz, Richard Alan Lewis, J.D. Karkera, Glenda S. Manligas, Erich Roessler and Maximilian Muenke

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/ajmg.a.10884

    2. What do ratings of cancer-specific distress mean among women at high risk of breast and ovarian cancer? (pages 222–228)

      James C. Coyne, Linda Kruus, Melissa Racioppo, Kathleen A. Calzone and Katrina Armstrong

      Version of Record online: 18 SEP 2002 | DOI: 10.1002/ajmg.a.10844

    3. Prevalence of mitral valve prolapse in Stickler syndrome (pages 234–237)

      Nadeem Ahmad, Allan J. Richards, Helen C. Murfett, Leonard Shapiro, John D. Scott, John R.W. Yates, Joanne Norton and Martin P. Snead

      Version of Record online: 18 SEP 2002 | DOI: 10.1002/ajmg.a.10619

    4. Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations (pages 238–242)

      Ana Marcão, Heidi Simonis, Frank Schestag, M. Clara Sá Miranda and Volkmar Gieselmann

      Version of Record online: 19 SEP 2002 | DOI: 10.1002/ajmg.a.10822

    5. Lack of association between eNOS gene polymorphisms and ischemic heart disease in the Spanish population (pages 243–248)

      Marc Via, Antonio López-Alomar, Neus Valveny, Emilio González-Pérez, Meritxell Bao, Esther Esteban, Xavier Pintó, Enric Domingo and Pedro Moral

      Version of Record online: 15 AUG 2002 | DOI: 10.1002/ajmg.a.10805

    6. X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male (pages 255–260)

      David J. Aughton, Richard I. Kelley, Aida Metzenberg, Vincent Pureza and Richard M. Pauli

      Version of Record online: 19 SEP 2002 | DOI: 10.1002/ajmg.a.10852

  2. Editorls Note

    1. Top of page
    2. Research Articles
    3. Editorls Note
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Articles
    9. Research Letters
    10. Research Letter
    11. Research Letters
    1. Editor's note (page 261)

      John C. Carey

      Version of Record online: 7 OCT 2002 | DOI: 10.1002/ajmg.a.10889

  3. Research Articles

    1. Top of page
    2. Research Articles
    3. Editorls Note
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Articles
    9. Research Letters
    10. Research Letter
    11. Research Letters
  4. Clinical Report

    1. Top of page
    2. Research Articles
    3. Editorls Note
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Articles
    9. Research Letters
    10. Research Letter
    11. Research Letters
    1. Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion (pages 268–271)

      Donna M. Martin, Margaret H. Mindell, Christine A. Kwierant, Thomas W. Glover and Jerome L. Gorski

      Version of Record online: 1 NOV 2002 | DOI: 10.1002/ajmg.a.10064

  5. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Editorls Note
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Articles
    9. Research Letters
    10. Research Letter
    11. Research Letters
    1. Clinical and genetic heterogeneity in frontometaphyseal dysplasia: Severe progressive scoliosis in two families (pages 272–277)

      Éva Morava, Tamás Illés, János Weisenbach, Judit Kárteszi and György Kosztolányi

      Version of Record online: 18 SEP 2002 | DOI: 10.1002/ajmg.a.10831

    2. Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: A new distinct entity (pages 278–283)

      Sonia Canún, E.G. Guevara-Sanginés, A. Elvira-Morales, Ma. del C. Sierra-Romero and H. Rodríguez-Asbun

      Version of Record online: 19 SEP 2002 | DOI: 10.1002/ajmg.a.10883

    3. Two new cases of analphoid marker chromosomes (pages 284–289)

      Miriam Spiegel, Gabriele Hickmann, Gabriele Senger, Peter Kozlowski and Oliver Bartsch

      Version of Record online: 18 SEP 2002 | DOI: 10.1002/ajmg.a.10916

    4. Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism (pages 290–294)

      Judith Loeffler, Elisabeth Soelder, Martin Erdel, Barbara Utermann, Andreas Janecke, Hans-Christoph Duba and Gerd Utermann

      Version of Record online: 18 SEP 2002 | DOI: 10.1002/ajmg.a.10902

  6. Clinical Report

    1. Top of page
    2. Research Articles
    3. Editorls Note
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Articles
    9. Research Letters
    10. Research Letter
    11. Research Letters
    1. Atypical progeroid syndrome: An unknown helicase gene defect? (pages 295–299)

      M.W.G. Ruijs, R.N.J. van Andel, J. Oshima, K. Madan, A.W.M. Nieuwint and C.M. Aalfs

      Version of Record online: 19 SEP 2002 | DOI: 10.1002/ajmg.a.10730

  7. Research Articles

    1. Top of page
    2. Research Articles
    3. Editorls Note
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Articles
    9. Research Letters
    10. Research Letter
    11. Research Letters
    1. True hermaphroditism with ambiguous genitalia due to a complicated mosaic karyotype: Clinical features, cytogenetic findings, and literature review (pages 300–303)

      Dalit Modan-Moses, Talia Litmanovitch, Shlomit Rienstein, Joseph Meyerovitch, Boleslaw Goldman and Ayala Aviram-Goldring

      Version of Record online: 19 SEP 2002 | DOI: 10.1002/ajmg.a.10869

  8. Research Letters

    1. Top of page
    2. Research Articles
    3. Editorls Note
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Articles
    9. Research Letters
    10. Research Letter
    11. Research Letters
    1. Distinctive spondylometaphyseal dysplasia in two siblings (pages 304–309)

      K. Kozlowski and C.C.S. Poon

      Version of Record online: 6 AUG 2002 | DOI: 10.1002/ajmg.a.10671

  9. Research Letter

    1. Top of page
    2. Research Articles
    3. Editorls Note
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Articles
    9. Research Letters
    10. Research Letter
    11. Research Letters
    1. Endogenous hydrogen sulfide overproduction in Down syndrome (pages 310–311)

      Pierre Kamoun, Maria-Cristina Belardinelli, Allel Chabli, Karim Lallouchi and Bernadette Chadefaux-Vekemans

      Version of Record online: 18 SEP 2002 | DOI: 10.1002/ajmg.a.10847

  10. Research Letters

    1. Top of page
    2. Research Articles
    3. Editorls Note
    4. Research Articles
    5. Clinical Report
    6. Clinical Reports
    7. Clinical Report
    8. Research Articles
    9. Research Letters
    10. Research Letter
    11. Research Letters
    1. Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci (pages 312–314)

      Massimo Mangino, Antonio Pizzuti, Bruno Dallapiccola, Aldo Bonfante, Donatella Saccilotto and Elena Cucchiara

      Version of Record online: 18 SEP 2002 | DOI: 10.1002/ajmg.a.10850

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