American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 August 2007

Volume 143A, Issue 16

Pages 1815–1949

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    1. Upper airway obstruction in neonates and infants with CHARGE syndrome (pages 1815–1820)

      Yoko Naito, Masataka Higuchi, Goro Koinuma, Michihiko Aramaki, Takao Takahashi and Kenjiro Kosaki

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31851

    2. An association of Hutchinson–Gilford progeria and malignancy (pages 1821–1826)

      Stavit A. Shalev, Annachiara De Sandre-Giovannoli, Ayelet Adir Shani and Nicolas Levy

      Article first published online: 6 JUL 2007 | DOI: 10.1002/ajmg.a.31803

    3. Ataxia-telangiectasia: Mild neurological presentation despite null ATM mutation and severe cellular phenotype (pages 1827–1834)

      Neora Alterman, Aviva Fattal-Valevski, Lilach Moyal, Thomas O. Crawford, Howard M. Lederman, Yael Ziv and Yosef Shiloh

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31853

    4. Disclosures of Huntington disease risk within families: Patterns of decision-making and implications (pages 1835–1849)

      Robert Klitzman, Deborah Thorne, Jennifer Williamson, Wendy Chung and Karen Marder

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31864

    5. The clinical utility of enhanced subtelomeric coverage in array CGH (pages 1850–1857)

      Blake C. Ballif, Scott G. Sulpizio, Richard M. Lloyd, Sara L. Minier, Aaron Theisen, Bassem A. Bejjani and Lisa G. Shaffer

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31842

    6. Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map (pages 1858–1867)

      Ilse Feenstra, Lisenka E.L.M. Vissers, Mirjam Orsel, Ad Geurts van Kessel, Han G. Brunner, Joris A. Veltman and Conny M.A. van Ravenswaaij-Arts

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31850

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    1. Endochondral gigantism: A newly recognized skeletal dysplasia with pre- and postnatal overgrowth and endocrine abnormalities (pages 1868–1875)

      Heinrich Schmidt, Birgit Kammer, Monika Grasser, Angelika Enders, Imma Rost and Wieland Kiess

      Article first published online: 6 JUL 2007 | DOI: 10.1002/ajmg.a.31839

    2. Filamin A mutation is one cause of FG syndrome (pages 1876–1879)

      Sheila Unger, Anita Mainberger, Christian Spitz, Anna Bähr, Christine Zeschnigk, Bernhard Zabel, Andrea Superti-Furga and Deborah J. Morris-Rosendahl

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31751

    3. A girl with deletion 9q22.1–q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH (pages 1885–1889)

      Beata Nowakowska, Anna Kutkowska-Kaźmierczak, Paweł Stankiewicz, Ewa Bocian, Ewa Obersztyn, Zhishuo Ou, Sau Wai Cheung and Wei-Wen Cai

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31845

    4. Mosaic variegated aneuploidy without microcephaly: Implications for cytogenetic diagnosis (pages 1890–1893)

      Mark A. Micale, David Schran, Sean Emch, Thaddeus W. Kurczynski, Nazneen Rahman and Daniel L. Van Dyke

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31848

    5. A de novo 1.1–1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features (pages 1894–1899)

      Frédérique Béna, Armand Bottani, Fabienne Marcelli, Loredana D'Amato Sizonenko, Bernard Conrad and Sophie Dahoun

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31789

    6. Variant Klinefelter syndrome 47,X,i(X)(q10),Y and normal 46,XY karyotype in monozygotic adult twins (pages 1906–1911)

      D. Stemkens, F.J. Broekmans, P.M.M. Kastrop, R. Hochstenbach, B.G. Smith and J.C. Giltay

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31856

    7. An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses (pages 1912–1918)

      Fernanda S. Jehee, Débora R. Bertola, Krishna K. Yelavarthi, Ana C.V. Krepischi-Santos, Chong Kim, Angela M. Vianna-Morgante, Joris R. Vermeesch and Maria Rita Passos-Bueno

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31863

    8. Genochondromatosis type II: Report of a new patient and further delineation of the phenotype (pages 1919–1921)

      Bertrand Isidor, Sophie Guillard, Antoine Hamel, Cedric Le Caignec and Albert David

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31854

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    1. End-stage renal failure in Smith–Magenis syndrome (pages 1922–1924)

      Scott M. Myers, Thomas D. Challman and Glenn H. Bock

      Article first published online: 29 JUN 2007 | DOI: 10.1002/ajmg.a.31830

    2. Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy (pages 1925–1927)

      Grzegorz Węgrzyn, Anna Tylki-Szymańska, Anna Liberek, Ewa Piotrowska, Joanna Jakóbkiewicz-Banecka, Jolanta Marucha, Barbara Czartoryska and Alicja Węgrzyn

      Article first published online: 29 JUN 2007 | DOI: 10.1002/ajmg.a.31831

    3. TG15 T5 allele in clinically discordant monozygotic twins with cystic fibrosis (pages 1936–1937)

      Luigi Picci, Marilena Cameran, Maurizio Scarpa, Ugo Pradal, Paola Melotti, Baroukh M. Assael and Carlo Castellani

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31849

  4. Research Reviews

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    1. Clinical dividends from the molecular genetic diagnosis of craniosynostosis (pages 1941–1949)

      Andrew O.M. Wilkie, Elena G. Bochukova, Ruth M. S. Hansen, Indira B. Taylor, Sahan V. Rannan-Eliya, Jo C. Byren, Steven A. Wall, Lina Ramos, Margarida Venâncio, Jane A. Hurst, Anthony W. O'Rourke, Louise J. Williams, Anneke Seller and Tracy Lester

      Article first published online: 9 JUL 2007 | DOI: 10.1002/ajmg.a.31905

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