American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 16

15 August 2008

Volume 146A, Issue 16

Pages 2041–2175

  1. Research Reviews

    1. Top of page
    2. Research Reviews
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    1. Mechanisms of imprinting of the Prader–Willi/Angelman region (pages 2041–2052)

      Bernhard Horsthemke and Joseph Wagstaff

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32364

  2. Research Articles

    1. Top of page
    2. Research Reviews
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    1. Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt–Hopkins syndrome (pages 2053–2059)

      Vera M. Kalscheuer, Ilse Feenstra, Conny M.A. Van Ravenswaaij-Arts, Dominique F.C.M. Smeets, Corinna Menzel, Reinhard Ullmann, Luciana Musante and Hans-Hilger Ropers

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32419

    2. Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey (pages 2060–2069)

      Donald B. Bailey Jr, Melissa Raspa, Murrey Olmsted and David B. Holiday

      Version of Record online: 20 JUN 2008 | DOI: 10.1002/ajmg.a.32439

    3. Fear of health insurance loss among individuals at risk for Huntington disease (pages 2070–2077)

      Emily Oster, E. Ray Dorsey, Jan Bausch, Aileen Shinaman, Elise Kayson, David Oakes, Ira Shoulson and Kimberly Quaid

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32422

    4. Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: A complex series of events (pages 2086–2093)

      Sophie Dahoun, Sarantis Gagos, Maryline Gagnebin, Corinne Gehrig, Carole Burgi, Fabienne Simon, Chantal Vieux, Philippe Extermann, Robert Lyle, Michael A. Morris, Stylianos E. Antonarakis, Frédérique Béna and Jean-Louis Blouin

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32431

    5. Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients (pages 2094–2102)

      Danielle Martinet, Isabel Filges, Nathalie Besuchet Schmutz, Michael A. Morris, Anne-Claude Gaide, Sophie Dahoun, Armand Bottani, Marie-Claude Addor, Stylianos E. Antonarakis, Jacques S. Beckmann and Frédérique Béna

      Version of Record online: 15 JUL 2008 | DOI: 10.1002/ajmg.a.32414

    6. Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia (pages 2103–2108)

      Rita Barone, Luisa Sturiale, Vito Sofia, Antonella Ignoto, Agata Fiumara, Giovanni Sorge, Domenico Garozzo and Mario Zappia

      Version of Record online: 15 JUL 2008 | DOI: 10.1002/ajmg.a.32446

    7. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome (pages 2109–2115)

      P. Callier, L. Faivre, C. Thauvin-Robinet, N. Marle, A.L. Mosca, P. D'Athis, J. Guy, A. Masurel-Paulet, L. Joly, S. Guiraud, J.R. Teyssier, F. Huet and F. Mugneret

      Version of Record online: 15 JUL 2008 | DOI: 10.1002/ajmg.a.32447

  3. Clinical Reports

    1. Top of page
    2. Research Reviews
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    1. Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia (pages 2116–2121)

      Sofia Douzgou, Katarina Lehmann, Rita Mingarelli, Stefan Mundlos and Bruno Dallapiccola

      Version of Record online: 15 JUL 2008 | DOI: 10.1002/ajmg.a.32435

    2. Monozygotic twins discordant for Proteus syndrome (pages 2122–2125)

      Knut Brockmann, Rudolf Happle, Frank Oeffner and Arne König

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32417

    3. Constitutional H19 hypermethylation in a patient with isolated cardiac tumor (pages 2126–2129)

      Maria Descartes, Robb Romp, Judy Franklin, Joseph R. Biggio and Barbara Zehnbauer

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32421

    4. Radiological evolution in IMAGe association: A case report (pages 2130–2133)

      Naoko Amano, Hori Naoaki, Tomohiro Ishii, Satoshi Narumi, Rumi Hachiya, Gen Nishimura and Tomonobu Hasegawa

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32425

    5. Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient (pages 2134–2137)

      Daniel Rocha de Carvalho, Natalia Freitas Rossi, Silvana Schellini, Danilo Moretti-Ferreira and Antônio Richieri-Costa

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32428

    6. Marshall–Smith syndrome and septo-optic dysplasia: An unreported association (pages 2138–2140)

      Laura Travan, Chiara Oretti, Floriana Zennaro and Sergio Demarini

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32430

    7. The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation (pages 2145–2151)

      Shin Hayashi, Seiji Mizuno, Ohsuke Migita, Torayuki Okuyama, Yoshio Makita, Akira Hata, Issei Imoto and Johji Inazawa

      Version of Record online: 15 JUL 2008 | DOI: 10.1002/ajmg.a.32433

    8. Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1 (pages 2152–2154)

      E.M. Lodder, A.J.M. Hoogeboom, J.H. Coert and E. de Graaff

      Version of Record online: 15 JUL 2008 | DOI: 10.1002/ajmg.a.32441

  4. Research Letters

    1. Top of page
    2. Research Reviews
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    1. A case of Lelis syndrome with hystrix-like ichthyosis (pages 2155–2158)

      M.A.M. van Steensel, V. Winnepenninckx, I.F. Nagtzaam, R. Janssens, R. De Vos and P.M. Steijlen

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32409

    2. An intronic mutation in DKC1 in an infant with Høyeraal–Hreidarsson syndrome (pages 2159–2161)

      Toni Pearson, Fiona Curtis, Ayman Al-Eyadhy, Salem Al-Tamemi, Bruce Mazer, Yigal Dror, Sharon Abish, Sherri Bale, John Compton, Reena Ray, Patrick Scott and Vazken M. Der Kaloustian

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32412

    3. SOX10 mutation in Waardenburg syndrome type II (pages 2162–2163)

      Manami Iso, Maki Fukami, Reiko Horikawa, Noriyuki Azuma, Nobuko Kawashiro and Tsutomu Ogata

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32403

    4. Genital anomalies in a patient with Treacher Collins syndrome (pages 2169–2171)

      Dr. Karin Writzl, Jera Jeruc, Michael Oldridge, Borut Peterlin and Raoul C.M. Hennekam

      Version of Record online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32404

    5. Sacral appendage in a child with an FGFR2 mutation: A report and review (pages 2172–2175)

      Alan L. Shanske, David Staffenberg and James T. Goodrich

      Version of Record online: 15 JUL 2008 | DOI: 10.1002/ajmg.a.32436

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