American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 15

1 August 2008

Volume 146A, Issue 15

Pages 1903–2039

  1. Rapid Publications

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Book Reviews
    1. Homozygous deletions of a copy number change detected by array CGH: A new cause for mental retardation? (pages 1903–1910)

      Cynthia J. Curry, Rong Mao, Emily Aston, Shella K. Mongia, Tamara Treisman, Melinda Procter, Bob Chou, Heidi Whitby, Sarah T. South and Arthur R. Brothman

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32450

  2. Research Articles

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Book Reviews
    1. Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder (pages 1911–1916)

      Catalina García-Nonell, Eugenia Rigau Ratera, Susan Harris, David Hessl, Michele Y. Ono, Nicole Tartaglia, Emily Marvin, Flora Tassone and Randi J. Hagerman

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32290

    2. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis (pages 1917–1924)

      Deborah Krakow, Yasemin Alanay, Lauren P. Rimoin, Victoria Lin, William R. Wilcox, Ralph S. Lachman and David L. Rimoin

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32269

    3. Aging in people with specific genetic syndromes: Rett syndrome (pages 1925–1932)

      Nicky S.J. Halbach, Eric E.J. Smeets, Connie T.R.M. Schrander-Stumpel, Henny H.J. van Schrojenstein Lantman de Valk, Marian A. Maaskant and Leopold M.G. Curfs

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32361

    4. 15q13q14 deletions: Phenotypic characterization and molecular delineation by comparative genomic hybridization (pages 1933–1941)

      Nicola Brunetti-Pierri, Trilochan Sahoo, Sarah Frioux, Craig Chinault, Roxanne Zascavage, Sau-Wai Cheung, Sarika Peters and Marwan Shinawi

      Article first published online: 17 JUN 2008 | DOI: 10.1002/ajmg.a.32324

    5. Molecular and clinical characterization of two patients with Prader–Willi syndrome and atypical deletions of proximal chromosome 15q (pages 1955–1962)

      Gabriela Calounova, Petra Hedvicakova, Eva Silhanova, Gabriela Kreckova and Zdenek Sedlacek

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32416

  3. Clinical Reports

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Book Reviews
    1. Mycophenolate mofetil embryopathy may be dose and timing dependent (pages 1963–1966)

      Ghee Soon Ang, Sheila A. Simpson and Aravind R. Reddy

      Article first published online: 20 JUN 2008 | DOI: 10.1002/ajmg.a.32420

    2. Neocentromere marker chromosome of distal 3q mimicking dup(3q) syndrome phenotype (pages 1967–1971)

      Kosuke Izumi, Yukio Yamashita, Michihiko Aramaki, Rika Kosaki, Noboru Hosokai, Takao Takahashi and Kenjiro Kosaki

      Article first published online: 17 JUN 2008 | DOI: 10.1002/ajmg.a.32120

    3. Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p (pages 1972–1976)

      David Coman, Sonya Bacic, Amber Boys, Duncan B. Sparrow, Sally L. Dunwoodie, Ravi Savarirayan and David J. Amor

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32299

    4. Clinical variability in acro-cardio-facial-syndrome (pages 1977–1979)

      Ariana Kariminejad, Bita Bozorgmehr, Mohammad Ali Sedighi Gilani, Navid Almadani and Mohamad Hasan Kariminejad

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32052

    5. Haplotype analysis at the FRAXA locus in an Indian population (pages 1980–1985)

      S. Saha Chakraborty, Bama Charan Mondal, S. Das, K. Das and U.B. Dasgupta

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32108

    6. A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features (pages 1994–1998)

      Filomena Tiziana Papa, Maria Antonietta Mencarelli, Rossella Caselli, Eleni Katzaki, Katia Sampieri, Ilaria Meloni, Francesca Ariani, Ilaria Longo, Angela Maggio, Paolo Balestri, Salvatore Grosso, Maria Angela Farnetani, Rosario Berardi, Francesca Mari and Alessandra Renieri

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32413

  4. Research Letters

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Book Reviews
    1. Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: A new genotype/phenotype correlation? (pages 2001–2004)

      Laura Guazzarotti, Cristiana Caprio, Tuula K. Rinne, Mariangela Bosoni, Giulia Pattarino, Silvia Mauri, Gian Luca Tadini, Hans van Bokhoven and Gian Vincenzo Zuccotti

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32371

    2. Be careful with familial unbalanced chromosome abnormalities! (pages 2005–2007)

      L. Rodríguez, E. Niebuhr, A. García, M.L. Martínez-Fernández and J.L. Peña Segura

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32383

    3. Additional EFNB1 mutations in craniofrontonasal syndrome (pages 2008–2012)

      Deeann Wallis, Felicitas Lacbawan, Mahim Jain, Vazken M. Der Kaloustian, Carlos E. Steiner, John B. Moeschler, H. Wolfgang Losken, Ilkka I. Kaitila, Stephen Cantrell, Virginia K. Proud, John C. Carey, Donald W. Day, Dorit Lev, Ahmad S. Teebi, Luther K. Robinson, H. Eugene Hoyme, Nadia Al-Torki, Jacqueline Siegel-Bartelt, John B. Mulliken, Nathaniel H. Robin, Dolores Saavedra, Elaine H. Zackai and Maximilian Muenke

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32388

    4. Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia (pages 2013–2017)

      Alireza Baradaran-Heravi, Christian Thiel, Anita Rauch, Martin Zenker, Cornelius F. Boerkoel and Ilkka Kaitila

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32406

    5. A new case of proximal monosomy 1p36, extending the phenotype (pages 2018–2022)

      Sabine Rudnik-Schöneborn, Klaus Zerres, Martin Häusler, Alexandra Lott, Timo Krings and Herdit M. Schüler

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32405

  5. Research Reviews

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Book Reviews
    1. You have free access to this content
      Genetic disorders associated with macrocephaly (pages 2023–2037)

      Charles A. Williams, Aditi Dagli and Agatino Battaglia

      Article first published online: 15 JUL 2008 | DOI: 10.1002/ajmg.a.32434

  6. Book Reviews

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Book Reviews
    1. Book review (pages 2038–2039)

      Cheryl M. Coffin

      Article first published online: 14 JUL 2008 | DOI: 10.1002/ajmg.a.32041

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