American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

30 April 2005

Volume 134A, Issue 3

Pages 233–347

  1. Rapid Publications

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Invited Comments
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. Elevated fibroblast growth factor-23 in hypophosphatemic linear nevus sebaceous syndrome (pages 233–236)

      William H. Hoffman, Harald W. Jueppner, Barry R. DeYoung, M. Sue O'Dorisio and Keena S. Given

      Article first published online: 1 MAR 2005 | DOI: 10.1002/ajmg.a.30599

  2. Research Articles

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

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

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Invited Comments
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. The 22q11.2 deletion in African-American patients: An underdiagnosed population? (pages 242–246)

      Donna M. McDonald-McGinn, Nancy Minugh-Purvis, Richard E. Kirschner, Abbas Jawad, Melissa K. Tonnesen, Jason R. Catanzaro, Elizabeth Goldmuntz, Deborah Driscoll, Don LaRossa, Beverly S. Emanuel and Elaine H. Zackai

      Article first published online: 7 MAR 2005 | DOI: 10.1002/ajmg.a.30069

    2. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth (pages 247–253)

      M. Cecconi, F. Forzano, D. Milani, S. Cavani, C. Baldo, A. Selicorni, C. Pantaleoni, M. Silengo, G.B. Ferrero, G. Scarano, M. Della Monica, R. Fischetto, P. Grammatico, S. Majore, G. Zampino, L. Memo, E. Lucci Cordisco, G. Neri, M. Pierluigi, F. Dagna Bricarelli, M. Grasso and Francesca Faravelli

      Article first published online: 1 MAR 2005 | DOI: 10.1002/ajmg.a.30492

    3. Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: Is less more? (pages 259–267)

      Bassem A. Bejjani, Reza Saleki, Blake C. Ballif, Emily A. Rorem, Kyle Sundin, Aaron Theisen, Catherine D. Kashork and Lisa G. Shaffer

      Article first published online: 18 FEB 2005 | DOI: 10.1002/ajmg.a.30621

    4. Malformations of the axial skeleton in Museum Vrolik I: Homeotic transformations and numerical anomalies (pages 268–281)

      Roelof-Jan Oostra, Raoul C.M. Hennekam, Laurens de Rooij and Antoon F.M. Moorman

      Article first published online: 24 FEB 2005 | DOI: 10.1002/ajmg.a.30639

    5. Rapid array-based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23) (pages 282–289)

      Carolyn M. Drazinic, Adife G. Ercan-Sencicek, Laura M. Gault, Fuki M. Hisama, Mazin B. Qumsiyeh, Norma J. Nowak, Joseph F. Cubells and Matthew W. State

      Article first published online: 7 MAR 2005 | DOI: 10.1002/ajmg.a.30616

    6. Amish brittle hair syndrome gene maps to 7p14.1 (pages 290–294)

      Eric Seboun, Arnaud Lemainque and Charles E. Jackson

      Article first published online: 18 FEB 2005 | DOI: 10.1002/ajmg.a.30615

    7. Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort (pages 295–298)

      K.M. Dent, D.M. Dunn, A.C. von Niederhausern, A.T. Aoyagi, L. Kerr, M.B. Bromberg, K.J. Hart, T. Tuohy, S. White, J.T. den Dunnen, R.B. Weiss and K.M. Flanigan

      Article first published online: 18 FEB 2005 | DOI: 10.1002/ajmg.a.30617

  5. Clinical Reports

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Invited Comments
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37 (pages 299–304)

      Linlea Armstrong, Judith E. Allanson, David D. Weaver, Carole J. Bevan and Holly H. Hobart

      Article first published online: 1 MAR 2005 | DOI: 10.1002/ajmg.a.30502

    2. Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q (pages 305–308)

      Thomas Eggermann, Ulrike Gamerdinger, Kristin Bosse, Christiane Heidrich-Kaul, Ruth Raff, Esther Meyer, Ingeborg Heil, Herdit Schüler, Eckhard Korsch and Gesa Schwanitz

      Article first published online: 18 FEB 2005 | DOI: 10.1002/ajmg.a.30631

    3. Gastric juvenile polyposis associated with germline SMAD4 mutation (pages 326–329)

      Kentaro Shikata, Yoji Kukita, Takayuki Matsumoto, Motohiro Esaki, Takashi Yao, Yuichi Mochizuki, Kenshi Hayashi and Mitsuo Iida

      Article first published online: 7 MAR 2005 | DOI: 10.1002/ajmg.a.30482

    4. Duplication of chromosome 4q: Renal pathology of two siblings (pages 330–333)

      Taketo Otsuka, Hidehiko Fujinaka, Masaru Imamura, Yasuki Tanaka, Hiroshi Hayakawa and Shuichi Tomizawa

      Article first published online: 24 FEB 2005 | DOI: 10.1002/ajmg.a.30643

  6. Research Letters

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Invited Comments
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. Karyotype/phenotype correlations in duplication 4q: Evidence for a critical region within 4q27-28 for preaxial defects (pages 334–337)

      A. Battaglia, Z. Chen, A.R. Brothman, S. Morelli, J.C. Palumbos, J.C. Carey, L. Hudgins and C. Disteche

      Article first published online: 9 MAR 2005 | DOI: 10.1002/ajmg.a.30644

    2. Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy (pages 338–340)

      Edmar Zanoteli, Jocelyn Laporte, José C.C. Rocha, Christine Kretz, Acary S.B. Oliveira, Jean-Louis Mandel, Ana B.A. Perez, Alberto A. Gabbai and Anna Buj-Bello

      Article first published online: 2 FEB 2005 | DOI: 10.1002/ajmg.a.30574

    3. GC79/TRPS1 and tumorigenesis in humans (pages 341–343)

      Hiromasa Kobayashi, Megumu Hino, Tatsuhide Inoue, Eiji Nii, Kaori Ikeda, Cheol Son, Toshio Iwakura, Takashi Ishihara and Yoshihiro Ogawa

      Article first published online: 2 FEB 2005 | DOI: 10.1002/ajmg.a.30596

  7. Correspondence

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Invited Comments
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. New findings in craniofacial dyssynostosis (pages 344–345)

      Eva Bermejo, Pablo Lapunzina, Enrique Galán, Valentín Félix, Virginia Soler and María-Luisa Martínez-Frias

      Article first published online: 18 FEB 2005 | DOI: 10.1002/ajmg.a.30632

  8. Errata

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Invited Comments
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. You have free access to this content
      Early development of occipital horns in a classical Menkes patient (Am J Med Genet 130A: 211–213) (page 346)

      M. Gérard-Blanluet, L. Birk-Møller, N. Horn, I. Caubel, A. Gélot and T. Billette de Villemeur

      Article first published online: 18 MAR 2005 | DOI: 10.1002/ajmg.a.30608

    2. You have free access to this content
      Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome (Am J Med Genet 131A: 209–212) (page 347)

      Frank J. Probst, Peter Hedera, Anthony M. Sclafani, Maria Grazia Pomponi, Giovanni Neri, Jessica Tyson, Julie A. Douglas, Elizabeth M. Petty and Donna M. Martin

      Article first published online: 18 MAR 2005 | DOI: 10.1002/ajmg.a.30605

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