American Journal of Medical Genetics Part A

Copyright © 2012 Wiley Periodicals Inc.

Cover image for American Journal of Medical Genetics Part A

1 January 2006

Volume 140A, Issue 1

Pages 1–110

  1. Rapid Publications

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation (pages 1–7)

      Karen W. Gripp, Angela E. Lin, Deborah L. Stabley, Linda Nicholson, Charles I. Scott Jr., Daniel Doyle, Yoko Aoki, Yoichi Matsubara, Elaine H. Zackai, Pablo Lapunzina, Antonio Gonzalez-Meneses, Jennifer Holbrook, Cynthia A. Agresta, Iris L. Gonzalez and Katia Sol-Church

      Article first published online: 2 DEC 2005 | DOI: 10.1002/ajmg.a.31047

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      HRAS mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy (pages 8–16)

      Anne L. Estep, William E. Tidyman, Michael A. Teitell, Philip D. Cotter and Katherine A. Rauen

      Article first published online: 13 DEC 2005 | DOI: 10.1002/ajmg.a.31078

    3. Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome (pages 17–23)

      S. Kantarci, D. Casavant, C. Prada, M. Russell, J. Byrne, L. Wilkins Haug, R. Jennings, S. Manning, T.K. Boyd, J.P. Fryns, L.B. Holmes, P.K. Donahoe, C. Lee, V. Kimonis and B.R. Pober

      Article first published online: 6 DEC 2005 | DOI: 10.1002/ajmg.a.31025

  2. Research Articles

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Investigation of confined placental mosaicism (CPM) at multiple sites in post-delivery placentas derived through intracytoplasmic sperm injection (ICSI) (pages 24–30)

      Agata Minor, Karynn Harmer, Nicole Peters, Basil Ho Yuen and Sai Ma

      Article first published online: 6 DEC 2005 | DOI: 10.1002/ajmg.a.31016

    2. Novel splicing mutation in the NEMO (IKK-gamma) gene with severe immunodeficiency and heterogeneity of X-chromosome inactivation (pages 31–39)

      Karen Helene Ørstavik, Marianne Kristiansen, Gun Peggy Knudsen, Kari Storhaug, Åshild Vege, Kristin Eiklid, Tore G Abrahamsen, Asma Smahi and Jon Steen-Johnsen

      Article first published online: 6 DEC 2005 | DOI: 10.1002/ajmg.a.31026

    3. A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: Cytogenetics, molecular, and methylation studies (pages 40–45)

      Giorgio Gimelli, Roberto Giorda, Silvana Beri, Stefania Gimelli and Orsetta Zuffardi

      Article first published online: 6 DEC 2005 | DOI: 10.1002/ajmg.a.31044

    4. Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC (pages 46–51)

      Thomas Liehr, Heike Starke, Gabriele Senger, Cindy Melotte, Anja Weise and Joris Robert Vermeesch

      Article first published online: 6 DEC 2005 | DOI: 10.1002/ajmg.a.31048

    5. Adverse reproductive outcomes among pregnancies of aunts and (spouses of) uncles in Irish families with neural tube defects (pages 52–61)

      Julianne Byrne and Susan Carolan

      Article first published online: 6 DEC 2005 | DOI: 10.1002/ajmg.a.31049

    6. Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency (pages 62–69)

      Mohammed Tredano, David N. Cooper, Manfred Stuhrmann, John Christodoulou, Nadia A. Chuzhanova, Françoise Roudot-Thoraval, Pierre-Yves Boëlle, Jacques Elion, Marc Jeanpierre, Josué Feingold, Rémy Couderc and Michel Bahuau

      Article first published online: 6 DEC 2005 | DOI: 10.1002/ajmg.a.31050

    7. Nevo syndrome with an NSD1 deletion: A variant of Sotos syndrome? (pages 70–73)

      Nobuko Kanemoto, Katsuyoshi Kanemoto, Gen Nishimura, Tomohiro Kamoda, Remco Visser, Osamu Shimokawa and Naomichi Matsumoto

      Article first published online: 2 DEC 2005 | DOI: 10.1002/ajmg.a.30776

  3. Clinical Reports

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Isolated 6q terminal deletions: An emerging new syndrome (pages 74–81)

      Veronica Bertini, Giuseppe De Vito, Rosa Costa, Paolo Simi and Angelo Valetto

      Article first published online: 2 DEC 2005 | DOI: 10.1002/ajmg.a.31020

    2. Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 → pter and partial trisomy 1q41 → qter suggests neo-telomere formation in stabilizing the deleted chromosome (pages 82–87)

      Leslie D. Kulikowski, Laurie A. Christ, Sintia I. Nogueira, Decio Brunoni, Stuart Schwartz and Maria I. Melaragno

      Article first published online: 6 DEC 2005 | DOI: 10.1002/ajmg.a.31045

    3. A large interstitial deletion of 17p13.1p11.2 involving the Smith–Magenis chromosome region in a girl with multiple congenital anomalies (pages 88–91)

      Toshiyuki Yamamoto, Hideaki Ueda, Motoyoshi Kawataki, Michiko Yamanaka, Toshihide Asou, Yuki Kondoh, Naoki Harada, Naomichi Matsumoto and Kenji Kurosawa

      Article first published online: 6 DEC 2005 | DOI: 10.1002/ajmg.a.31055

  4. Research Letters

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Patau syndrome with a long survival (146 months): A clinical report and review of literature (pages 92–93)

      Dimitrios Iliopoulos, Eleni Sekerli, Georgia Vassiliou, Vasiliki Sidiropoulou, Augerinos Topalidis, Despina Dimopoulou and Nikolaos Voyiatzis

      Article first published online: 6 DEC 2005 | DOI: 10.1002/ajmg.a.31056

    2. A male baboon (Papio hamadryas) with a mosaic 43,XXY/42,XY karyotype (pages 94–97)

      Christopher J. Dudley, Gene B. Hubbard, Charleen M. Moore, Betty G. Dunn, Muthuswamy Raveendran, Jeffrey Rogers, Peter W. Nathanielsz, John R. McCarrey and Natalia E. Schlabritz-Loutsevitch

      Article first published online: 28 NOV 2005 | DOI: 10.1002/ajmg.a.31014

    3. Severe hypocalcemia due to a de novo mutation in the fifth transmembrane domain of the calcium-sensing receptor (pages 98–101)

      Stefano Mora, Ilaria Zamproni, Maria Carla Proverbio, Valentina Bozzetti, Giuseppe Chiumello and Giovanna Weber

      Article first published online: 6 DEC 2005 | DOI: 10.1002/ajmg.a.31054

  5. Book Reviews

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. An intelligent person's guide to genetics. By Adrian Woolfson. London, Duckworth Overlook, 2004. 240 p. (pages 102–103)

      F. Clarke Fraser

      Article first published online: 21 NOV 2005 | DOI: 10.1002/ajmg.a.31051

  6. Correspondence

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Molecular pathology of Shprintzen–Goldberg syndrome (pages 104–108)

      Kenjiro Kosaki, Daisuke Takahashi, Toru Udaka, Rika Kosaki, Morio Matsumoto, Shigeharu Ibe, Takeshi Isobe, Yoko Tanaka and Takao Takahashi

      Article first published online: 6 DEC 2005 | DOI: 10.1002/ajmg.a.31006

    2. Response to Kosaki et al. “Molecular pathology of Shprintzen–Goldberg syndrome” (pages 109–110)

      Peter N. Robinson, Luitgard M. Neumann and Sigrid Tinschert

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.31007

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