American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 September 2003

Volume 121A, Issue 3

Pages 193–292

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letter
    5. Research Letters
    6. Book Reviews
    7. Genetic Drift
    8. Correspondence
    1. Hyperechogenic fetal bowel: A large French collaborative study of 682 cases (pages 209–213)

      B. Simon-Bouy, V. Satre, C. Ferec, M.C. Malinge, E. Girodon, E. Denamur, N. Leporrier, P. Lewin, F. Forestier and F. Muller

      Version of Record online: 8 APR 2003 | DOI: 10.1002/ajmg.a.20168

    2. Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy (pages 214–218)

      Mammi Isabella, Basile Rosaria Teresa, Bellato Silvano, Belli Serena, Benedicenti Francesco, Boni Stefania, Castellan Claudio, Clementi Maurizio, Di Gianantonio Elena, Petrella Marilena, Turolla Licia and Tenconi Romano

      Version of Record online: 5 MAY 2003 | DOI: 10.1002/ajmg.a.20255

      Corrected by:

      Corrigendum: Corrigendum

      Vol. 155, Issue 4, 942, Version of Record online: 24 MAR 2011

    3. Methionine synthase (MTR) 2756 (A [RIGHTWARDS ARROW] G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome (pages 219–224)

      Paolo Bosco, Rosa-Maria Guéant-Rodriguez, Guido Anello, Concetta Barone, Farès Namour, Filippo Caraci, Antonino Romano, Corrado Romano and Jean-Louis Guéant

      Version of Record online: 6 MAY 2003 | DOI: 10.1002/ajmg.a.20234

    4. Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II (pages 225–230)

      Maria Gabriela Pittis, Anna Lisa E. Montalvo, Snjezana Miocic, Cristina Martini, Marta Deganuto, Manila Candusso, Giovanni Ciana and Bruno Bembi

      Version of Record online: 6 MAY 2003 | DOI: 10.1002/ajmg.a.20164

    5. Vasomotor instability in neonates with chromosome 22q11 deletion syndrome (pages 231–234)

      Vandana Shashi, Margaret N. Berry and Michael H. Hines

      Version of Record online: 5 MAY 2003 | DOI: 10.1002/ajmg.a.20219

    6. Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family (pages 235–239)

      Lejin Wang, Michael Ribaudo, Kanxing Zhao, Ning Yu, Qiuyun Chen, Qiuxiang Sun, Liming Wang and Qing Wang

      Version of Record online: 29 APR 2003 | DOI: 10.1002/ajmg.a.20224

    7. Association between mutations in the CARD15 (NOD2) gene and Crohn's disease in Israeli Jewish patients (pages 240–244)

      Herma H. Fidder, Sylviane Olschwang, Benjamin Avidan, Habib Zouali, Alon Lang, Eytan Bardan, Orit Picard, Simon Bar-Meir, Jean Frederic Colombel and Yehuda Chowers

      Version of Record online: 29 APR 2003 | DOI: 10.1002/ajmg.a.20209

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letter
    5. Research Letters
    6. Book Reviews
    7. Genetic Drift
    8. Correspondence
    1. Donnai-Barrow syndrome: Four additional patients (pages 258–262)

      Nicolas Chassaing, Didier Lacombe, Dominique Carles, Patrick Calvas, Robert Saura and Eric Bieth

      Version of Record online: 15 MAY 2003 | DOI: 10.1002/ajmg.a.20266

    2. Familial optic atrophy with white matter changes (pages 263–265)

      Chana Vinkler, Dorit Lev, Hadas Kalish, Nathan Watemberg, Miri Yanoov-Sharav, Esther Leshinsky-Silver and Tally Lerman-Sagie

      Version of Record online: 15 MAY 2003 | DOI: 10.1002/ajmg.a.20238

    3. Blepharocheilodontic (BCD) syndrome: Expanding the phenotype? (pages 266–270)

      Vera Lúcia Gil da Silva Lopes, Maria Leine Guion-Almeida and Elaine Sbroggio de Oliveira Rodini

      Version of Record online: 29 JUL 2003 | DOI: 10.1002/ajmg.a.20223

    4. Partial hexasomy of chromosome 15 (pages 277–280)

      Bing Huang and James Bartley

      Version of Record online: 29 APR 2003 | DOI: 10.1002/ajmg.a.20182

  3. Research Letter

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letter
    5. Research Letters
    6. Book Reviews
    7. Genetic Drift
    8. Correspondence
    1. Confirmation of Nablus mask-like facial syndrome (pages 283–285)

      Carmelo Damiano Salpietro, Silvana Briuglia, Luciana Rigoli, Maria Valeria Merlino and Bruno Dallapiccola

      Version of Record online: 3 JUN 2003 | DOI: 10.1002/ajmg.a.20280

  4. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letter
    5. Research Letters
    6. Book Reviews
    7. Genetic Drift
    8. Correspondence
    1. Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome) (pages 286–288)

      Maria Cristina Digilio, Bruno Marino, Aldo Giannotti, Massimo Castro, Franco Colistro, Francesca Ferretti and Bruno Dallapiccola

      Version of Record online: 6 MAY 2003 | DOI: 10.1002/ajmg.a.20254

  5. Book Reviews

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letter
    5. Research Letters
    6. Book Reviews
    7. Genetic Drift
    8. Correspondence
  6. Genetic Drift

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letter
    5. Research Letters
    6. Book Reviews
    7. Genetic Drift
    8. Correspondence
    1. You have free access to this content
      A look beyond (page 291)

      Penny M. Kadmon

      Version of Record online: 28 JUL 2003 | DOI: 10.1002/ajmg.a.20297

  7. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letter
    5. Research Letters
    6. Book Reviews
    7. Genetic Drift
    8. Correspondence

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