American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 April 2004

Volume 126A, Issue 2

Pages 111–220

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Book Review
    6. Correspondence
    1. Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey (pages 111–122)

      Mary L. Marazita, L. Leigh Field, Gökhan Tunçbilek, Margaret E. Cooper, Toby Goldstein and K. Gürler Gürsu

      Version of Record online: 24 OCT 2003 | DOI: 10.1002/ajmg.a.20564

    2. Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different (pages 123–128)

      Géraldine Viot, Pascale Sonigo, Isabelle Simon, Brigitte Simon-Bouy, Frédéric Chadeyron, Cherif Beldjord, Julia Tantau, Jelena Martinovic, Chantal Esculpavit, Francis Brunelle, Arnold Munnich, Michel Vekemans and Férechté Encha-Razavi

      Version of Record online: 21 OCT 2003 | DOI: 10.1002/ajmg.a.20569

    3. Phenotypic manifestations of MECP2 mutations in classical and atypical rett syndrome (pages 129–140)

      Carolyn Schanen, Elisa J.F. Houwink, Naghmeh Dorrani, Jane Lane, Ruth Everett, Alice Feng, Rita M. Cantor and Alan Percy

      Version of Record online: 24 OCT 2003 | DOI: 10.1002/ajmg.a.20571

    4. Anthropometric characteristics of X-linked hypophosphatemia (pages 141–149)

      Ewa Pronicka, Ewa Popowska, Elżbieta Rowińska, Elżbieta Arasimowicz, Małgorzata Syczewska, Dorota Jurkiewicz and Michał Lebiedowski

      Version of Record online: 24 OCT 2003 | DOI: 10.1002/ajmg.a.20572

    5. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation (pages 150–155)

      Vito Iacobazzi, Marzia Pasquali, Rani Singh, Dietrich Matern, Piero Rinaldo, Cristina Amat di San Filippo, Ferdinando Palmieri and Nicola Longo

      Version of Record online: 21 OCT 2003 | DOI: 10.1002/ajmg.a.20573

    6. Attitudes and psychosocial adjustment of unaffected siblings of patients with phenylketonuria (pages 156–160)

      Lana T. Pho, Randi E. Zinberg, Theresa A. Hopkins-Boomer, Sylvan Wallenstein and Margaret M. McGovern

      Version of Record online: 21 OCT 2003 | DOI: 10.1002/ajmg.a.20577

    7. Congenital diaphragmatic hernia: Is 15q26.1-26.2 a candidate locus? (pages 183–185)

      Joseph R. Biggio Jr, Maria D. Descartes, Andrew J. Carroll and R. Lynn Holt

      Version of Record online: 18 AUG 2003 | DOI: 10.1002/ajmg.a.20464

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Book Review
    6. Correspondence
    1. Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: Further evidence for a putative gene on 4q (pages 186–190)

      Mario Giuffrè, Simona La Placa, Maurizio Carta, Antonella Cataliotti, Maria Marino, Maria Piccione, Francesco Pusateri, Ferdinando Meli and Giovanni Corsello

      Version of Record online: 24 OCT 2003 | DOI: 10.1002/ajmg.a.20561

    2. Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero (pages 191–196)

      Fatma Kammoun, Alain Tanguy, Odile Boesplug-Tanguy, Henri Bensahel, Nejib Khouri and Pierre Landrieu

      Version of Record online: 24 OCT 2003 | DOI: 10.1002/ajmg.a.20562

    3. Phenotypical variation in cousins with the identical partial trisomy 9 (pter-q22.2) and 7 (q35-qter) at 16 and 23 weeks gestation (pages 197–203)

      S. Metzke-Heidemann, H. Kuhling-von Kaisenberg, A. Caliebe, D. Janssen, W. Jonat, W. Grote and C.S. von Kaisenberg

      Version of Record online: 21 OCT 2003 | DOI: 10.1002/ajmg.a.20563

    4. Mental retardation, Robin sequence, and brachydactyly: Further confirmation of a new syndrome (pages 204–207)

      Fiorella Gurrieri, Gioacchino Scarano, Livia Garavelli, Matteo Della Monica, Fortunato Lonardo, Domenico Cuda, Giacomo Banchini, John M. Opitz and Giovanni Neri

      Version of Record online: 21 OCT 2003 | DOI: 10.1002/ajmg.a.20575

    5. A child with Angelman syndrome and trisomy 13 findings due to associated paternal UPD 15 and segmental UPD 13 (pages 208–212)

      Anne Chun-Hui Tsai, Tamra Gibby, Linda Beischel, Loris McGavran and John P. Johnson

      Version of Record online: 6 OCT 2003 | DOI: 10.1002/ajmg.a.20581

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Book Review
    6. Correspondence
    1. A further case of coincidental Prader–Willi and Klinefelter syndromes (pages 213–214)

      Michael Schneider, Shawnia Forrester, Victoria Crain and Virginia Kimonis

      Version of Record online: 12 FEB 2004 | DOI: 10.1002/ajmg.a.20462

    2. Evaluation of the jumonji gene and risk for spina bifida and congenital heart defects (pages 215–217)

      Kelly A. Volcik, Huiping Zhu, Richard H. Finnell, Gary M. Shaw, Mark Canfield and Edward J. Lammer

      Version of Record online: 21 OCT 2003 | DOI: 10.1002/ajmg.a.20574

  4. Book Review

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Book Review
    6. Correspondence
    1. Book review (pages 218–219)

      Leonard Pinsky

      Version of Record online: 24 OCT 2003 | DOI: 10.1002/ajmg.a.20558

  5. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Book Review
    6. Correspondence

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