American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 20

15 October 2008

Volume 146A, Issue 20

Pages 2583–2714

  1. New Syndrome

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Corrigenda
    7. Errata
    1. You have free access to this content
  2. Research Articles

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Corrigenda
    7. Errata
    1. Two new patients with Curry–Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway (pages 2589–2597)

      Dorothy K. Grange, Carol L. Clericuzio, Susan J. Bayliss, David R. Berk, Richard L. Heideman, Julie K. Higginson, Stephanie Julian and Anne Lind

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32503

    2. Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: Association with polymorphisms in the MTHFR and MTRR genes in Brazilian children (pages 2598–2602)

      Ana C.M. Aléssio, Lúcia H. Siqueira, Sérgio P. Bydlowski, Nelci F. Höehr and Joyce M. Annichino-Bizzacchi

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32496

    3. Mutation analysis of B3GALTL in Peters Plus syndrome (pages 2603–2610)

      Linda M. Reis, Rebecca C. Tyler, Omar Abdul-Rahman, Pamela Trapane, Robert Wallerstein, Diane Broome, Jodi Hoffman, Aneal Khan, Christina Paradiso, Nitin Ron, Amanda Bergner and Elena V. Semina

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32498

    4. Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees (pages 2611–2616)

      Hartmut Engels, Thomas Eggermann, Almut Caliebe, Anna Jelska, Regine Schubert, Herdit M. Schüler, Barbara Panasiuk, Jacek Zaremba, Anna Latos-Bieleńska, Lucjusz Jakubowski, Klaus P. Zerres, Gesa Schwanitz and Alina T. Midro

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32500

    5. Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population (pages 2617–2625)

      Faith Pangilinan, Kerry Geiler, Jessica Dolle, James Troendle, Deborah A. Swanson, Anne M. Molloy, Marie Sutton, Mary Conley, Peadar N. Kirke, John M. Scott, James L. Mills and Lawrence C. Brody

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32504

    6. Sirenomelia and cyclopia cluster in Cali, Colombia (pages 2626–2636)

      Eduardo E. Castilla, Pierpaolo Mastroiacovo, Jorge S. López-Camelo, Wilmar Saldarriaga, Carolina Isaza and Iêda M. Orioli

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32506

    7. High prevalence of orofacial clefts in Shanxi Province in northern China, 2003–2004 (pages 2637–2643)

      Zhiwen Li, Aiguo Ren, Jianmeng Liu, Le Zhang, Rongwei Ye, Song Li and Zhu Li

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32492

    8. Evidence that SIZN1 is a candidate X-linked mental retardation gene (pages 2644–2650)

      Ginam Cho, Shambhu S. Bhat, Jinsong Gao, Julianne S. Collins, R. Curtis Rogers, Richard J. Simensen, Charles E. Schwartz, Jeffrey A. Golden and Anand K. Srivastava

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32472

  3. Clinical Reports

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Corrigenda
    7. Errata
    1. Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility (pages 2651–2656)

      Aziza Lebbar, Patrick Callier, Françoise Baverel, Nathalie Marle, Catherine Patrat, Dominique Le Tessier, Francine Mugneret and Jean-Michel Dupont

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32499

    2. Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene (pages 2657–2662)

      Hala Mégarbané, Céline Cluzeau, Christine Bodemer, Sylvie Fraïtag, Myrna Chababi-Atallah, André Mégarbané and Asma Smahi

      Version of Record online: 24 SEP 2008 | DOI: 10.1002/ajmg.a.32509

    3. Pure duplication 1q41-qter: Further delineation of trisomy 1q syndromes (pages 2663–2667)

      Leslie Domenici Kulikowski, Fernanda T.S. Bellucco, Sintia I. Nogueira, Denise M. Christofolini, Marilia de A.C. Smith, Claudia B. de Mello, Decio Brunoni and Maria Isabel Melaragno

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32510

    4. Familial deletion 11q14.3–q22.1 without apparent phenotypic consequences: A haplosufficient 8.5 Mb region (pages 2668–2672)

      C. Goumy, L. Gouas, A. Tchirkov, T. Roucaute, M. Giollant, L. Veronèse, C. Francannet and P. Vago

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32511

    5. Congenital vascular malformations: A series of five prenatally diagnosed cases (pages 2673–2680)

      Fiona Connell, Tessa Homfray, Baskaran Thilaganathan, Amarnath Bhide, Iona Jeffrey, Renata Hutt, Peter Mortimer and Sahar Mansour

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32502

    6. Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings (pages 2681–2687)

      Maria Piccione, Emiliano Maresi, Marcella Zollino, Cinzia Sanfilippo, Laura Seminara, Giovanni Neri and Giovanni Corsello

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32514

    7. Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder (pages 2688–2690)

      Zoran S. Gucev, Velibor Tasic, Aleksandra Jancevska, Marina Krstevska Konstantinova, Nada Pop-Jordanova, Zoran Trajkovski and Leslie G. Biesecker

      Version of Record online: 24 SEP 2008 | DOI: 10.1002/ajmg.a.32515

  4. Research Letters

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Corrigenda
    7. Errata
    1. Terminal osseous dysplasia and pigmentary defects in a Brazilian girl (pages 2698–2700)

      Nancy Mizue Kokitsu-Nakata, Luís Fernando Benedito Bérgamo Antunes and Maria Leine Guion-Almeida

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32353

    2. Maternal exposure to statins and risk for birth defects: A case-series approach (pages 2701–2705)

      Emily E. Petersen, Allen A. Mitchell, John C. Carey, Martha M. Werler, Carol Louik and Sonja A. Rasmussen

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32493

    3. Linkage disequilibrium between IRF6 variants and nonsyndromic cleft lip/palate in the Chilean population (pages 2706–2708)

      José Suazo, José Luis Santos, Lilian Jara and Rafael Blanco

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32494

    4. Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population (pages 2709–2712)

      Kaisu Nikali, Juan J. Vanegas, Mari-Wyn Burley, Juliana Martinez, Lina M. Lopez, Gabriel Bedoya, Oliver M. Wrong, Sue Povey, Robert J. Unwin and Andres Ruiz-Linares

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/ajmg.a.32495

  5. Corrigenda

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Corrigenda
    7. Errata
    1. You have free access to this content
      Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance Am J Med Genet Part A 143A:1287–1296 (page 2713)

      Antonie D. Kline, Ian D. Krantz, Annemarie Sommer, Mark Kliewer, Laird G. Jackson, David R. FitzPatrick, Alex V. Levin and Angelo Selicorni

      Version of Record online: 24 SEP 2008 | DOI: 10.1002/ajmg.a.32469

  6. Errata

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Corrigenda
    7. Errata
    1. You have free access to this content
      Am J Med Genet Part A 146A:1101–1116 Development and validation of a measure of dysmorphology: Useful for autism subgroup classification (page 2714)

      Judith H. Miles, T. Nicole Takahashi, Julie Hong, Nicole Munden, Nancy Flournoy, Stephen R. Braddock, Rick A. Martin, M. Anne Spence, Richard E. Hillman and Janet E. Farmer

      Version of Record online: 24 SEP 2008 | DOI: 10.1002/ajmg.a.32484

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