American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 September 2006

Volume 140A, Issue 17

Pages 1797–1891

  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. Linking Antley–Bixler syndrome and congenital adrenal hyperplasia: A novel case of P450 oxidoreductase deficiency (pages 1797–1803)

      L. Williamson, W. Arlt, C. Shackleton, R.I. Kelley and S.R. Braddock

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/ajmg.a.31385

  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. Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP (pages 1804–1813)

      Deborah D. Hatton, John Sideris, Martie Skinner, Jean Mankowski, Donald B. Bailey Jr, Jane Roberts and Penny Mirrett

      Version of Record online: 12 MAY 2006 | DOI: 10.1002/ajmg.a.31286

    2. Autism spectrum disorder in Fragile X syndrome: Differential contribution of adaptive socialization and social withdrawal (pages 1814–1826)

      Dejan B. Budimirovic, Irena Bukelis, Christiane Cox, Robert M. Gray, Elaine Tierney and Walter E. Kaufmann

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/ajmg.a.31405

    3. Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause (pages 1827–1833)

      Kiyonori Miura, Koh-ichiro Yoshiura, Shoko Miura, Tatsuro Kondoh, Naoki Harada, Kentaro Yamasaki, Yoko Fujimoto, Yoko Yamasaki, Terumi Tanigawa, Yuriko Kitajima, Takako Shimada, Atsushi Yoshida, Daisuke Nakayama, Masato Tagawa, Shuichiro Yoshimura, Joseph Wagstaff, Yoshihiro Jinno, Tadayuki Ishimaru, Norio Niikawa and Hideaki Masuzaki

      Version of Record online: 4 AUG 2006 | DOI: 10.1002/ajmg.a.31389

    4. Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland—An epidemiological study (pages 1834–1839)

      Niklas Pakkasjärvi, Annukka Ritvanen, Riitta Herva, Leena Peltonen, Marjo Kestilä and Jaakko Ignatius

      Version of Record online: 4 AUG 2006 | DOI: 10.1002/ajmg.a.31381

    5. A father of four consecutive trisomic pregnancies with elevated frequencies of associated aneuploid sperm (pages 1840–1845)

      Lisa M. Tomascik-Cheeseman, Xiu R. Lowe, Brenda Eskenazi, Sharon Kidd, Joginder Nath, Dan Moore II and Andrew J. Wyrobek

      Version of Record online: 4 AUG 2006 | DOI: 10.1002/ajmg.a.31391

    6. A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families (pages 1846–1853)

      Xu Wang, Fuying Xiao, Qinbo Yang, Bo Liang, Zhaohui Tang, Linbin Jiang, Qihui Zhu, Wei Chang, Jiuxi Jiang, Chuanming Jiang, Xiang Ren, Jing-Yu Liu, Qing K. Wang and Mugen Liu

      Version of Record online: 4 AUG 2006 | DOI: 10.1002/ajmg.a.31372

  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. Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum (pages 1854–1858)

      Sharon J. English, Neti Gayatri, Rosemary Arthur and Yanick J. Crow

      Version of Record online: 4 AUG 2006 | DOI: 10.1002/ajmg.a.31376

    2. Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization (pages 1859–1863)

      P. Callier, L. Faivre, N. Marle, C. Thauvin-Robinet, D. Sanlaville, P. Gosset, M. Prieur, M. Labenne, F. Huet and F. Mugneret

      Version of Record online: 4 AUG 2006 | DOI: 10.1002/ajmg.a.31395

    3. Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: Importance of the relative proportion of the 45,X line in gonadal tissue (pages 1871–1875)

      Alexis D. Guedes, Bianca Bianco, Mônica V.N. Lipay, Décio Brunoni, Maria de Lourdes Chauffaille and Ieda T.N. Verreschi

      Version of Record online: 4 AUG 2006 | DOI: 10.1002/ajmg.a.31363

  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. Identification of a novel polymorphism—the duplication of the NPHP1 (nephronophthisis 1) gene (pages 1876–1879)

      Hagit Baris, Bassem A. Bejjani, Wen-Hann Tan, David L. Coulter, Judith A. Martin, Andrea L. Storm, Barbara K. Burton, Sulagna C. Saitta, Marzena Gajecka, Blake C. Ballif, Mira B. Irons, Lisa G. Shaffer and Virginia E. Kimonis

      Version of Record online: 4 AUG 2006 | DOI: 10.1002/ajmg.a.31390

    2. Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes (pages 1880–1886)

      Wiktor Borozdin, Ana M. Bravo-Ferrer Acosta, Eva Seemanova, Michael Leipoldt, Michael J. Bamshad, Sheila Unger and Jürgen Kohlhase

      Version of Record online: 4 AUG 2006 | DOI: 10.1002/ajmg.a.31340

  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. Book review (page 1887)

      Patrick MacLeod and Clarke Fraser

      Version of Record online: 9 JUN 2006 | DOI: 10.1002/ajmg.a.31328

  6. Correspondence

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Multiple aneuploidy recurrence risk (pages 1888–1889)

      Sebastiano Bianca, Carmela Ingegnosi, Antonella Cataliotti and Giuseppe Ettore

      Version of Record online: 7 AUG 2006 | DOI: 10.1002/ajmg.a.31401

    2. Response to: Multiple aneuploidy recurrence risk (pages 1890–1891)

      Pietro Cavalli and Roberto Luongo

      Version of Record online: 7 AUG 2006 | DOI: 10.1002/ajmg.a.31398

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