American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 14

15 July 2008

Volume 146A, Issue 14

Pages 1773–1901

  1. In Memoriam

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Genetic Drift
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Jose Maria Cantu (1938–2007) (pages 1773–1774)

      Jose E. Garcia-Ortiz

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32385

  2. New Syndrome

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Genetic Drift
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
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      Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs (pages 1775–1780)

      Romain Guilherme, Clarisse Baumann, Catherine Garel, Yolène Huten, Jean-François Oury and Anne-Lise Delezoide

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32380

  3. Genetic Drift

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

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Genetic Drift
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. The common inversion of the Williams–Beuren syndrome region at 7q11.23 does not cause clinical symptoms (pages 1797–1806)

      Elaine Tam, Edwin J. Young, Colleen A. Morris, Christian R. Marshall, Wayne Loo, Stephen W. Scherer, Carolyn B. Mervis and Lucy R. Osborne

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32360

    2. A new osteogenesis imperfecta with improvement over time maps to 11q (pages 1807–1814)

      Agnès Kamoun-Goldrat, Stéphanie Pannier, Céline Huber, Georges Finidori, Arnold Munnich, Valérie Cormier-Daire and Martine Le Merrer

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32379

    3. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome) (pages 1815–1819)

      M. Cristina Digilio, Flaminia Calzolari, Rossella Capolino, Alessandra Toscano, Anna Sarkozy, Andrea de Zorzi, Bruno Dallapiccola and Bruno Marino

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32407

  5. Clinical Reports

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Genetic Drift
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Prenatal cortical hyperostosis with COL1A1 gene mutation (pages 1820–1824)

      Agnès Kamoun-Goldrat, Jelena Martinovic, Julien Saada, Pascale Sonigo-Cohen, Ferechte Razavi, Arnold Munnich and Martine Le Merrer

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32351

    2. Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: A third case report (pages 1825–1827)

      Myriam Chaabouni, Faouzi Maazoul, Amira Ben Hamida, Moncef Berhouma, Zahra Marrakchi and Habiba Chaabouni

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32349

    3. Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring (pages 1828–1831)

      Nancy B. Spinner, Sulagna C. Saitta, Daniel P. Delaney, Raymond Colliton, Stephen A. Zderic, Eduardo Ruchelli, Elaine Zackai and Thomas F. Kolon

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32358

    4. Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia (pages 1832–1841)

      Demetra S. Stamm, Arthur S. Aylsworth, Jeffrey M. Stajich, Stephen G. Kahler, Leigh B. Thorne, Marcy C. Speer and Cynthia M. Powell

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32370

    5. Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy (pages 1842–1847)

      Sibel Kantarci, Nicola K. Ragge, N. Simon Thomas, David O. Robinson, Kristin M. Noonan, Meaghan K. Russell, Dian Donnai, F. Lucy Raymond, Christopher A. Walsh, Patricia K. Donahoe and Barbara R. Pober

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32381

    6. Filippi syndrome: Further clinical characterization (pages 1848–1852)

      Agatino Battaglia, Tiziana Filippi, Silvia Pusceddu and Charles A. Williams

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32400

    7. Czech dysplasia: Report of a large family and further delineation of the phenotype (pages 1859–1864)

      Andreas Tzschach, Sigrid Tinschert, Elke Kaminsky, Eugen Lusga, Stefan Mundlos and Luitgard M. Graul-Neumann

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32389

    8. Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome (pages 1871–1874)

      Valérie Bélien, Marion Gérard-Blanluet, Stéphane Serero, Nathalie Le Dû, Clarisse Baumann, Marie-Line Jacquemont, Céline Dupont, Kada Krabchi, Séverine Drunat, Annie Elbez, Jean-Claude Janaud, Brigitte Benzacken, Alain Verloes, Anne-Claude Tabet and Azzedine Aboura

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32392

    9. Johanson–Blizzard syndrome: Report of a novel mutation and severe liver involvement (pages 1875–1879)

      Mohammed S. Al-Dosari, Saleh Al-Muhsen, Ayman Al-Jazaeri, Julia Mayerle, Martin Zenker and Fowzan S. Alkuraya

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32401

    10. Sensorineural deafness, distinctive facial features, and abnormal cranial bones: A new variant of Waardenburg syndrome? (pages 1880–1885)

      Alona Gad, Mercy Laurino, Kenneth R. Maravilla, Mark Matsushita and Wendy H. Raskind

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32402

  6. Research Letters

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Genetic Drift
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Expanding the “E” in CHARGE (pages 1890–1892)

      Anas M. Alazami, Fatema Alzahrani and Fowzan S. Alkuraya

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32376

    2. No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome (pages 1893–1896)

      Hideo Kuniba, Daisuke Sato, Koh-ichiro Yoshiura, Hirofumi Ohashi, Kenji Kurosawa, Noriko Miyake, Tasturo Kondoh, Tadashi Matsumoto, Toshiro Nagai, Nobuhiko Okamoto, Yoshimitsu Fukushima, Kenji Naritomi, Naomichi Matsumoto and Norio Niikawa

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32382

  7. Correspondence

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Genetic Drift
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Mosaic trisomy 20: Considerations for genetic counseling (pages 1897–1898)

      Sebastiano Bianca, Gustavo Boemi, Barbara Barrano, Antonella Cataliotti, Carmela Ingegnosi, Lara Indaco and Giuseppe Ettore

      Version of Record online: 13 JUN 2008 | DOI: 10.1002/ajmg.a.32338

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