American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 6

15 March 2008

Volume 146A, Issue 6

Pages 675–801

  1. New Syndrome

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

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype? (pages 683–690)

      Karen W. Gripp, A. Micheil Innes, Marni E. Axelrad, Tanya L. Gillan, Jillian S. Parboosingh, Christine Davies, Norma J. Leonard, Monique Lapointe, Daniel Doyle, Sarah Catalano, Linda Nicholson, Deborah L. Stabley and Katia Sol-Church

      Version of Record online: 4 FEB 2008 | DOI: 10.1002/ajmg.a.32227

    2. Health-related quality of life of children with a positive carrier status for inherited cardiovascular diseases (pages 700–707)

      Ellen M.A. Smets, Marinka M.H. Stam, Tineke M. Meulenkamp, Irene M. van Langen, Arthur A.M. Wilde, Albert Wiegman, Guido M. de Wert and Aad Tibben

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32218

    3. Cognitive and motor development during childhood in boys with Klinefelter syndrome (pages 708–719)

      Judith L. Ross, David P. Roeltgen, Gerry Stefanatos, Rebecca Benecke, Martha P.D. Zeger, Harvey Kushner, Purita Ramos, Frederick F. Elder and Andrew R. Zinn

      Version of Record online: 11 FEB 2008 | DOI: 10.1002/ajmg.a.32232

    4. Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals (pages 730–739)

      Cheryl DeScipio, Nancy B. Spinner, Maninder Kaur, Dinah Yaeger, Laura K. Conlin, Anthony Ambrosini, Sufen Hu, Simei Shan, Ian D. Krantz and Harold Riethman

      Version of Record online: 6 FEB 2008 | DOI: 10.1002/ajmg.a.32216

  3. Clinical Reports

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature (pages 740–744)

      Leonie A. Menke, Bwee Tien Poll-The, Sally-Ann Clur, Catia M. Bilardo, Allard C. van der Wal, Henny H. Lemmink and Jan Maarten Cobben

      Version of Record online: 11 FEB 2008 | DOI: 10.1002/ajmg.a.32233

    2. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia (pages 745–757)

      Virginia. E. Kimonis, Sarju G. Mehta, Erin C. Fulchiero, Dana Thomasova, Marzia Pasquali, Kym Boycott, Edward G. Neilan, Alex Kartashov, Mark S. Forman, Stuart Tucker, Katerina Kimonis, Steven Mumm, Michael P. Whyte, Charles D. Smith and Giles D. J. Watts

      Version of Record online: 7 FEB 2008 | DOI: 10.1002/ajmg.a.31862

    3. Prenatal diagnosis of mosaic trisomy 8q studied by ultrasound, cytogenetics, and array-CGH (pages 764–769)

      Elizabeth Wood, Sarah Dowey, Daniel Saul, Colyn Cain, Judith Rossiter, Karin Blakemore and Gail Stetten

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32184

    4. You have free access to this content
      Clinical and radiographic delineation of odontochondrodysplasia (pages 770–778)

      Sheila Unger, Franco Antoniazzi, Milena Brugnara, Yasemin Alanay, Ahmet Caglayan, Katherine Lachlan, Shiro Ikegawa, Gen Nishimura, Bernhard Zabel, Jürgen Spranger and Andrea Superti-Furga

      Version of Record online: 1 FEB 2008 | DOI: 10.1002/ajmg.a.32214

    5. Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs (pages 784–786)

      Federica Natacci, Maria Baffico, Ugo Cavallari, Maria Francesca Bedeschi, Isabella Mura, Alessio Paffoni, Paolo Levi Setti, Maurizia Baldi and Faustina Lalatta

      Version of Record online: 11 FEB 2008 | DOI: 10.1002/ajmg.a.32228

  4. Research Letters

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance (pages 787–790)

      Stefanie Birnbaum, Heiko Reutter, Carola Lauster, Martin Scheer, Gül Schmidt, Mitra Saffar, Markus Martini, Alexander Hemprich, Henning Henschke, Franz-Josef Kramer and Elisabeth Mangold

      Version of Record online: 4 FEB 2008 | DOI: 10.1002/ajmg.a.32219

    2. Pre- and postnatal overgrowth in a patient with proximal 4p deletion (pages 791–794)

      Lingqian Wu, Zhigao Long, Desheng Liang, Naoki Harada, Qian Pan, Koh-ichiro Yoshiura, Kun Xia, Heping Dai, Norio Niikawa and Jiahui Xia

      Version of Record online: 4 FEB 2008 | DOI: 10.1002/ajmg.a.32221

  5. Book Reviews

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
  6. Correspondence

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence

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