American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 June 2007

Volume 143A, Issue 11

Pages 1131–1260

  1. Genetic Drift

    1. Top of page
    2. Genetic Drift
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. You have free access to this content
  2. New Syndrome

    1. Top of page
    2. Genetic Drift
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. You have free access to this content
      Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation—New MCA/MR syndrome in two affected sibs and a mildly affected mother? (pages 1135–1142)

      Dagmar Wieczorek, Charles Shaw-Smith, Jürgen Kohlhase, Wolfgang Schmitt, Karin Buiting, Alison Coffey, Eleanor Howard, Ute Hehr and Gabriele Gillessen-Kaesbach

      Article first published online: 11 MAY 2007 | DOI: 10.1002/ajmg.a.31752

  3. Research Articles

    1. Top of page
    2. Genetic Drift
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate (pages 1143–1149)

      Katherine Neiswanger, Seth M. Weinberg, Carolyn R. Rogers, Carla A. Brandon, Margaret E. Cooper, Kathleen M. Bardi, Frederic W.B. Deleyiannis, Judith M. Resick, A'Delbert Bowen, Mark P. Mooney, Javier Enríquez de Salamanca, Beatriz González, Brion S. Maher, Rick A. Martin and Mary L. Marazita

      Article first published online: 11 MAY 2007 | DOI: 10.1002/ajmg.a.31760

    2. A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa (pages 1150–1158)

      Eyal Banin, Liliana Mizrahi-Meissonnier, Ruhama Neis, Shira Silverstein, István Magyar, Dvorah Abeliovich, Ronald Roepman, Wolfgang Berger, Thomas Rosenberg and Dror Sharon

      Article first published online: 4 MAY 2007 | DOI: 10.1002/ajmg.a.31642

    3. Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes (pages 1169–1173)

      Francesca Faravelli, Marina Murdolo, Giuseppe Marangi, Franca Dagna Bricarelli, Maja Di Rocco and Marcella Zollino

      Article first published online: 4 MAY 2007 | DOI: 10.1002/ajmg.a.31723

    4. The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population (pages 1174–1180)

      Anne Parle-McDermott, Faith Pangilinan, James L. Mills, Peadar N. Kirke, Eileen R. Gibney, James Troendle, Valerie B. O'Leary, Anne M. Molloy, Mary Conley, John M. Scott and Lawrence C. Brody

      Article first published online: 7 MAY 2007 | DOI: 10.1002/ajmg.a.31725

    5. Recurrent interstitial deletions of proximal 18q: A new syndrome involving expressive speech delay (pages 1181–1190)

      Jannine D. Cody, Courtney Sebold, Amtul Malik, Patricia Heard, Erika Carter, AnaLisa Crandall, Bridgette Soileau, Margaret Semrud-Clikeman, Catherine M. Cody, L. Jean Hardies, Jinqi Li, Jack Lancaster, Peter T. Fox, Robert F. Stratton, Brian Perry and Daniel E. Hale

      Article first published online: 7 MAY 2007 | DOI: 10.1002/ajmg.a.31729

    6. Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY (pages 1198–1203)

      Jeannie Visootsak, Beth Rosner, Elisabeth Dykens, Nicole Tartaglia and John M. Graham Jr.

      Article first published online: 11 MAY 2007 | DOI: 10.1002/ajmg.a.31746

    7. The National Niemann–Pick C1 disease database: Report of clinical features and health problems (pages 1204–1211)

      William S. Garver, Gordon A. Francis, David Jelinek, Glen Shepherd, James Flynn, Graciela Castro, Cate Walsh Vockley, Donald L. Coppock, Kathleen M. Pettit, Randy A. Heidenreich and F. John Meaney

      Article first published online: 11 MAY 2007 | DOI: 10.1002/ajmg.a.31735

  4. Clinical Reports

    1. Top of page
    2. Genetic Drift
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. A novel VEGFR3 mutation causes Milroy disease (pages 1212–1217)

      Matthew G. Butler, Susan L. Dagenais, Stanley G. Rockson and Thomas W. Glover

      Article first published online: 25 APR 2007 | DOI: 10.1002/ajmg.a.31703

    2. Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome (pages 1223–1226)

      M.A.M. van Steensel, R.P.M. Ceulen, T. Delhaas and C. de Die-Smulders

      Article first published online: 4 MAY 2007 | DOI: 10.1002/ajmg.a.31719

    3. First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation (pages 1236–1243)

      Celine Dupont, Aziza Lebbar, Cecile Teinturier, Françoise Baverel, Geraldine Viot, Dominique Le Tessier, Jerome Le Bozec, Laurence Cuisset and Jean-Michel Dupont

      Article first published online: 11 MAY 2007 | DOI: 10.1002/ajmg.a.31744

  5. Research Letters

    1. Top of page
    2. Genetic Drift
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Sotos syndrome is associated with leukemia/lymphoma (pages 1244–1245)

      Víctor Martínez-Glez and Pablo Lapunzina

      Article first published online: 4 MAY 2007 | DOI: 10.1002/ajmg.a.31727

    2. Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations (pages 1249–1252)

      Kristin Becker, Helen Hughes, Karol Howard, Maggie Armstrong, Devender Roberts, Edgar J. Lazda, John P. Short, Adam Shaw, Michael A. Patton and Marco Tartaglia

      Article first published online: 11 MAY 2007 | DOI: 10.1002/ajmg.a.31738

  6. Book Reviews

    1. Top of page
    2. Genetic Drift
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Book review (pages 1253–1255)

      Millan S. Patel

      Article first published online: 11 MAY 2007 | DOI: 10.1002/ajmg.a.31748

  7. Correspondence

    1. Top of page
    2. Genetic Drift
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. How exhaustive are reviews in research review articles? (pages 1256–1257)

      Horacio Rivera and Maria G. Domínguez

      Article first published online: 12 APR 2007 | DOI: 10.1002/ajmg.a.31695

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