American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 September 2005

Volume 138A, Issue 1

Pages 1–79

  1. New Syndrome

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    1. You have free access to this content
      A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria (pages 1–5)

      Luigi Titomanlio, Clarisse Baumann, Gheorghe Bonyhay, Yolène Huten, Jean-François Oury, Edith Vuillard, Catherine Garel, Patricia Terdjman, Alain Verloes and Anne-Lise Delezoide

      Version of Record online: 11 AUG 2005 | DOI: 10.1002/ajmg.a.30914

  2. Research Articles

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    1. Duplication of Xq26.2–q27.1, including SOX3, in a mother and daughter with short stature and dyslalia (pages 11–17)

      Paweł Stankiewicz, Hannelore Thiele, Mike Schlicker, Andrea Cseke-Friedrich, Sylva Bartel-Friedrich, Svetlana A. Yatsenko, James R. Lupski and Ingo Hansmann

      Version of Record online: 11 AUG 2005 | DOI: 10.1002/ajmg.a.30910

    2. Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes (pages 21–26)

      Gary M. Shaw, David M. Iovannisci, Wei Yang, Richard H. Finnell, Suzan L. Carmichael, Suzanne Cheng and Edward J. Lammer

      Version of Record online: 12 AUG 2005 | DOI: 10.1002/ajmg.a.30924

    3. Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome (pages 27–31)

      Maninder Kaur, Cheryl DeScipio, Jennifer McCallum, Dinah Yaeger, Marcella Devoto, Laird G. Jackson, Nancy B. Spinner and Ian D. Krantz

      Version of Record online: 12 AUG 2005 | DOI: 10.1002/ajmg.a.30919

    4. The natural history of severe anemia in cartilage-hair hypoplasia (pages 35–40)

      Marc S. Williams, Robert S. Ettinger, Pia Hermanns, Brendan Lee, Göran Carlsson, Mervi Taskinen and Outi Mäkitie

      Version of Record online: 11 AUG 2005 | DOI: 10.1002/ajmg.a.30902

  3. Clinical Reports

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    1. Brachydactylic multiple delta phalanges plus syndrome (pages 41–44)

      Christina P. Ahn, Ralph S. Lachman, Victoria A. Cox, Bruce Blumberg and Ophir D. Klein

      Version of Record online: 9 AUG 2005 | DOI: 10.1002/ajmg.a.30873

    2. Bifurcation of the femur with tibial agenesis and additional anomalies (pages 45–50)

      J.M. van de Kamp, J.J. van der Smagt, C.F.A. Bos, A. van Haeringen, P.C.W. Hogendoorn and M.H. Breuning

      Version of Record online: 12 AUG 2005 | DOI: 10.1002/ajmg.a.30918

    3. Cryptic duplication and deletion of 9q34.3 [RIGHTWARDS ARROW] qter in a family with a t(9;22)(q34.3;p11.2) (pages 51–55)

      Travis M. Sanger, Ann Haskins Olney, Dianna Zaleski, Diane Pickering, Marilu Nelson, Warren G. Sanger and Bhavana J. Dave

      Version of Record online: 15 AUG 2005 | DOI: 10.1002/ajmg.a.30922

    4. Recognition of Smith–Lemli–Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol (pages 56–60)

      Marwan Shinawi, Sara Szabo, Edwina Popek, Christopher A. Wassif, Forbes D. Porter and Lorraine Potocki

      Version of Record online: 11 AUG 2005 | DOI: 10.1002/ajmg.a.30898

  4. Research Letters

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    1. Prenatal death in Smith–Lemli–Opitz/RSH syndrome (pages 61–65)

      Angelica R. Putnam, Juliana G. Szakacs, John M. Opitz and Janice L.B. Byrne

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.a.30246

    2. Chromosome 1q42 deletion and agenesis of the corpus callosum (pages 68–69)

      Mani J. Puthuran, Christopher A. Rowland-Hill, J. Simpson, Peter W. Pairaudeau, Jennifer L. Mabbott, Steven M. Morris and Yanick J. Crow

      Version of Record online: 11 AUG 2005 | DOI: 10.1002/ajmg.a.30888

    3. A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia (pages 70–72)

      Shambhu S. Bhat, R. Curtis Rogers, Kenton R. Holden and Anand K. Srivastava

      Version of Record online: 11 AUG 2005 | DOI: 10.1002/ajmg.a.30892

    4. Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago (pages 73–74)

      Martin Zenker, Michel Pierson, Philippe Jonveaux and André Reis

      Version of Record online: 11 AUG 2005 | DOI: 10.1002/ajmg.a.30894

    5. Probable identity-by-descent for a mutation in the Dyggve–Melchior–Clausen/Smith–McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain (pages 75–78)

      Robert Pogue, Nadia Ehtesham, Gabriela M. Repetto, Roque Carrero-Valenzuela, Cristina Bazán de Casella, Silvia Pintos de Pons, Maria Luisa Martínez-Frías, Solange Heuertz, Valerie Cormier-Daire and Daniel H. Cohn

      Version of Record online: 11 AUG 2005 | DOI: 10.1002/ajmg.a.30912

  5. Book Reviews

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    1. Book review (page 79)

      Joan H. Marks and Harry Ostrer

      Version of Record online: 8 AUG 2005 | DOI: 10.1002/ajmg.a.30522

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