American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 April 2007

Volume 143A, Issue 8

Pages 771–905

  1. Research Reviews

    1. Top of page
    2. Research Reviews
    3. Invited Comments
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Sudden Infant Death Syndrome: Review of implicated genetic factors (pages 771–788)

      Debra E. Weese-Mayer, Michael J. Ackerman, Mary L. Marazita and Elizabeth M. Berry-Kravis

      Article first published online: 5 MAR 2007 | DOI: 10.1002/ajmg.a.31722

  2. Invited Comments

    1. Top of page
    2. Research Reviews
    3. Invited Comments
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
  3. Research Reviews

    1. Top of page
    2. Research Reviews
    3. Invited Comments
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: Clinical report and review (pages 791–798)

      P.A. Lennon, M.L. Cooper, D.A. Peiffer, K.L. Gunderson, A. Patel, Sarika Peters, S.W. Cheung and C.A. Bacino

      Article first published online: 1 MAR 2007 | DOI: 10.1002/ajmg.a.31632

  4. Research Articles

    1. Top of page
    2. Research Reviews
    3. Invited Comments
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome (pages 799–807)

      Yoko Narumi, Yoko Aoki, Tetsuya Niihori, Giovanni Neri, Hélène Cavé, Alain Verloes, Caroline Nava, Maria Ines Kavamura, Nobuhiko Okamoto, Kenji Kurosawa, Raoul C.M. Hennekam, Louise C. Wilson, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Pablo Lapunzina, Hirofumi Ohashi, Yoshio Makita, Ikuko Kondo, Shigeru Tsuchiya, Etsuro Ito, Kiyoko Sameshima, Kumi Kato, Shigeo Kure and Yoichi Matsubara

      Article first published online: 15 MAR 2007 | DOI: 10.1002/ajmg.a.31658

    2. Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA (pages 808–816)

      Avril E. Castagna, Jane Addis, Roderick R. McInnes, Joe T.R. Clarke, Peter Ashby, Susan Blaser and Brian H. Robinson

      Article first published online: 12 MAR 2007 | DOI: 10.1002/ajmg.a.31637

    3. Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease (pages 817–823)

      Marie K. Schluterman, Amanda E. Krysiak, Irfan S. Kathiriya, Nicola Abate, Manisha Chandalia, Srivastava Deepak and Vidu Garg

      Article first published online: 12 MAR 2007 | DOI: 10.1002/ajmg.a.31652

    4. Risk factors for poor bone health in adolescents and adults with CHARGE syndrome (pages 839–845)

      Karen E. Forward, Elizabeth A. Cummings and Kim D. Blake

      Article first published online: 15 MAR 2007 | DOI: 10.1002/ajmg.a.31670

    5. A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23 (pages 846–852)

      B.M. Riley, R.E. Schultz, M.E. Cooper, T. Goldstein-McHenry, S. Daack-Hirsch, K.T. Lee, E. Dragan, A.R. Vieira, A.C. Lidral, M.L. Marazita and J.C. Murray

      Article first published online: 15 MAR 2007 | DOI: 10.1002/ajmg.a.31673

  5. Clinical Reports

    1. Top of page
    2. Research Reviews
    3. Invited Comments
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. You have free access to this content
      Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases (pages 853–857)

      Chumei Li, Sandra L Marles, Cheryl R. Greenberg, Bernard N. Chodirker, Jiddeke van de Kamp, Anne Slavotinek and Albert E. Chudley

      Article first published online: 12 MAR 2007 | DOI: 10.1002/ajmg.a.31446

    2. Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH (pages 858–865)

      Maria Antonietta Mencarelli, Rossella Caselli, Chiara Pescucci, Giuseppe Hayek, Michele Zappella, Alessandra Renieri and Francesca Mari

      Article first published online: 12 MAR 2007 | DOI: 10.1002/ajmg.a.31602

    3. Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father (pages 866–870)

      M. Smyk, E. Obersztyn, B. Nowakowska, E. Bocian, S.W. Cheung, T. Mazurczak and P. Stankiewicz

      Article first published online: 12 MAR 2007 | DOI: 10.1002/ajmg.a.31631

    4. Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism (pages 871–874)

      C. Crétolle, S. Sarnacki, J. Amiel, D. Geneviève, F. Encha-Razavi, S. Zrelli, M. Zérah, C. Nihoul Fékété and S. Lyonnet

      Article first published online: 12 MAR 2007 | DOI: 10.1002/ajmg.a.31655

    5. Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene (pages 875–880)

      Mustafa Tekin, Filiz Başak Cengiz, Eda Ayberkin, Tanıl Kendirli, Suat Fitoz, Ercan Tutar, Ergin Çiftçi and Atakan Conba

      Article first published online: 15 MAR 2007 | DOI: 10.1002/ajmg.a.31660

    6. Novel oral findings in Schimmelpenning syndrome (pages 881–883)

      Linda M. Ernst, Peter D. Quinn and Faizan Alawi

      Article first published online: 15 MAR 2007 | DOI: 10.1002/ajmg.a.31663

  6. Research Letters

    1. Top of page
    2. Research Reviews
    3. Invited Comments
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation (pages 888–890)

      Armand Bottani, Jamel Chelly, Arjan P.M. de Brouwer, Bruno Pardo, Mandy Barker, Valeria Capra, Lucia Bartoloni, Stylianos E. Antonarakis and Bernard Conrad

      Article first published online: 12 MAR 2007 | DOI: 10.1002/ajmg.a.31651

    2. The ADULT-EEC spectrum: An R280C mutation with a borderline phenotype (pages 891–894)

      Elisa Kier-Swiatecka, Marianne Kock, Peter Marker, Hans Eiberg and Klaus Wilbrandt Kjaer

      Article first published online: 12 MAR 2007 | DOI: 10.1002/ajmg.a.31654

    3. Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome (pages 895–898)

      Têmis M. Félix, Michael J. Tansey, Shivanand R. Patil, Jeffrey C. Murray and John M. Dagle

      Article first published online: 15 MAR 2007 | DOI: 10.1002/ajmg.a.31659

    4. Spondylothoracic dysplasia: Prenatal diagnosis and the problems of nosologic overlap (pages 899–902)

      Shubha R. Phadke, Siddramappa J. Patil, Niraj Kumari and Narendra Krishnani

      Article first published online: 15 MAR 2007 | DOI: 10.1002/ajmg.a.31665

  7. Correspondence

    1. Top of page
    2. Research Reviews
    3. Invited Comments
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence

SEARCH

SEARCH BY CITATION