American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 June 2006

Volume 140A, Issue 12

Pages 1257–1356

  1. Research Reviews

    1. Top of page
    2. Research Reviews
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. New cases of Bohring–Opitz syndrome, update, and critical review of the literature (pages 1257–1263)

      Axel Bohring, Grétel G. Oudesluijs, Dorothy K. Grange, Giuseppe Zampino and Patrick Thierry

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31265

  2. Genetic Drift

    1. Top of page
    2. Research Reviews
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
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      Unexpected resiliency (pages 1264–1266)

      Robert Roger Lebel

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31283

  3. Research Articles

    1. Top of page
    2. Research Reviews
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization (pages 1267–1273)

      Joseph T.C. Shieh, Swaroop Aradhya, Antonio Novelli, Melanie A. Manning, Athena M. Cherry, Janet Brumblay, Carmelo D. Salpietro, Laura Bernardini, Bruno Dallapiccola and H. Eugene Hoyme

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31262

    2. A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin–Lowry syndrome (pages 1274–1279)

      Yueying Wang, Jose E. Martinez, Glen L. Wilson, Xi-Yu He, Cathy M. Tuck-Muller, Paul Maertens, Wladimir Wertelecki and Tian-Jian Chen

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31266

    3. Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population (pages 1280–1284)

      Taichi Itoh, Shuya Shirahama, Eiji Nakashima, Koichi Maeda, Nobuhiko Haga, Hiroshi Kitoh, Rika Kosaki, Hirofumi Ohashi, Gen Nishimura and Shiro Ikegawa

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31292

    4. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive (pages 1285–1296)

      Alain Verloes, Dominique Bremond-Gignac, Bertrand Isidor, Albert David, Clarisse Baumann, Marie-Anne Leroy, René Stevens, Yves Gillerot, Delphine Héron, Bénédicte Héron, Brigitte Benzacken, Didier Lacombe, Han Brunner and Pierre Bitoun

      Version of Record online: 12 MAY 2006 | DOI: 10.1002/ajmg.a.31270

  4. Clinical Reports

    1. Top of page
    2. Research Reviews
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome (pages 1302–1304)

      Toshiyuki Yamamoto, Kiyoko Sameshima, Ken-ichi Sekido, Noriko Aida, Naomichi Matsumoto, Kenji Naritomi and Kenji Kurosawa

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31297

    2. Periventricular nodular heterotopia and Williams syndrome (pages 1305–1311)

      Russell J. Ferland, John N. Gaitanis, Kira Apse, Umadevi Tantravahi, Christopher A. Walsh and Volney L. Sheen

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31259

    3. A new case of Grange syndrome without cardiac findings (pages 1316–1320)

      Robert Wallerstein, Ann Marie Augustyn, Donna Wallerstein, Leslie Elton, Beatriz Tejeiro, Valerie Johnson and Kenneth Lieberman

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31125

  5. Research Letters

    1. Top of page
    2. Research Reviews
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Craniofacial dyssynostosis in two boys with apparently normal cognitive development (pages 1333–1336)

      Sam F. Lahidji, Steven R. Buchman, Karin Muraszko, Jeffrey W. Innis and Catherine E. Keegan

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31268

    2. Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome (pages 1337–1338)

      Fabiola Quintero-Rivera, Caroline D. Robson, Rosemary E. Reiss, Deborah Levine, Carol B. Benson, John B. Mulliken and Virginia E. Kimonis

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31277

    3. Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women (pages 1339–1342)

      Carola Cheroki, Ana Cristina Krepischi-Santos, Carla Rosenberg, Fernanda Sarquis Jehee, Regina Célia Mingroni-Netto, Ivo Pavanello Filho, Sebastião Zanforlin Filho, Chong Ae Kim, Vicente R. Bagnoli, Berenice B. Mendonça, Karoly Szuhai and Paulo A. Otto

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31254

    4. Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum (pages 1343–1345)

      L. Spruijt, L.H. Hoefsloot, G.H.W.H. van Schaijk, D. van Waardenburg, B. Kremer, H.J.L. Brackel and C.E.M. de Die-Smulders

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31285

    5. Evaluation of SLC35A3 as a candidate gene for human vertebral malformations (pages 1346–1348)

      Nader Ghebranious, James K. Burmester, Ingrid Glurich, Elizabeth McPherson, Lynn Ivacic, Jennifer Kislow, Kristen Rasmussen, Vikram Kumar, Cathleen L. Raggio, Robert D. Blank, F. Stig Jacobsen, Thomas Faciszewski, James Womack and Philip F. Giampietro

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31307

    6. Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients (pages 1349–1351)

      Silvia Bione, Sara Benedetti, Mara Goegan, Immacolata Menditto, Anna Marozzi, Maurizio Ferrari and Daniela Toniolo

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31312

  6. Book Reviews

    1. Top of page
    2. Research Reviews
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Book review (page 1352)

      Nancy Carson

      Version of Record online: 11 MAY 2006 | DOI: 10.1002/ajmg.a.31280

  7. Correspondence

    1. Top of page
    2. Research Reviews
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Epilepsy and deletions at chromosome 2q24 (pages 1354–1355)

      Sandrine Pereira, José Pedro Vieira, Pierre Cau, Pierre Genton and Pierre Szepetowski

      Version of Record online: 12 MAY 2006 | DOI: 10.1002/ajmg.a.31299

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