American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 May 2006

Volume 140A, Issue 10

Pages 1033–1130

  1. Conference Reports

    1. Top of page
    2. Conference Reports
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. You have free access to this content
      Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group (pages 1033–1040)

      Ebony B. Bookman, Aleisha A. Langehorne, John H. Eckfeldt, Kathleen C. Glass, Gail P. Jarvik, Michael Klag, Greg Koski, Arno Motulsky, Benjamin Wilfond, Teri A. Manolio, Richard R. Fabsitz and Russell V. Luepker

      Version of Record online: 30 MAR 2006 | DOI: 10.1002/ajmg.a.31195

  2. Research Articles

    1. Top of page
    2. Conference Reports
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males (pages 1041–1046)

      Marion Gérard-Blanluet, Volney Sheen, Kalotina Machinis, Jason Neal, Kira Apse, Claude Danan, Martine Sinico, Pierre Brugières, Katia Mage, Lanto Ratsimbazafy, Annie Elbez, Jean-Claude Janaud, Serge Amselem, Christopher Walsh and Férechté Encha-Razavi

      Version of Record online: 4 APR 2006 | DOI: 10.1002/ajmg.a.31197

    2. FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited (pages 1047–1058)

      L.C. Adès, K. Sullivan, A. Biggin, E.A. Haan, M. Brett, K.J. Holman, J. Dixon, S. Robertson, A.D. Holmes, J. Rogers and B. Bennetts

      Version of Record online: 4 APR 2006 | DOI: 10.1002/ajmg.a.31202

    3. Linkage analysis of genetic loci for kyphoscoliosis on chromosomes 5p13, 13q13.3, and 13q32 (pages 1059–1068)

      Nancy H. Miller, Beth Marosy, Cristina M. Justice, Steven M. Novak, Edward Y. Tang, Paul Boyce, James Pettengil, Kimberly F. Doheny, Elizabeth W. Pugh and Alexander F. Wilson

      Version of Record online: 4 APR 2006 | DOI: 10.1002/ajmg.a.31211

    4. Genotype–epigenotype–phenotype correlations in females with frontometaphyseal dysplasia (pages 1069–1073)

      Martin Zenker, Lutz Nährlich, Heinrich Sticht, André Reis and Denise Horn

      Version of Record online: 4 APR 2006 | DOI: 10.1002/ajmg.a.31213

    5. Meiotic segregation analysis of reciprocal translocations both in sperms and blastomeres (pages 1074–1082)

      Tahsin Yakut, Nesrin Ercelen, Hasan Acar, Yalçın Kimya and Unal Egeli

      Version of Record online: 4 APR 2006 | DOI: 10.1002/ajmg.a.31215

    6. Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women (pages 1083–1091)

      Fabio Coppedè, Giulia Marini, Stefania Bargagna, Liborio Stuppia, Fabrizio Minichilli, Ilaria Fontana, Renato Colognato, Guia Astrea, Giandomenico Palka and Lucia Migliore

      Version of Record online: 4 APR 2006 | DOI: 10.1002/ajmg.a.31217

  3. Clinical Reports

    1. Top of page
    2. Conference Reports
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Lack of meiotic crossovers during oogenesis in an apparent 45,X Ullrich–Turner syndrome patient with three children (pages 1092–1097)

      Gunnar Houge, Helge Boman, Helle Lybæk, Gro O. Ness and Petur B. Juliusson

      Version of Record online: 4 APR 2006 | DOI: 10.1002/ajmg.a.31204

    2. Thyroid anomalies in Williams syndrome: Investigation of 95 patients (pages 1098–1101)

      A. Selicorni, A. Fratoni, M.A. Pavesi, M. Bottigelli, E. Arnaboldi and D. Milani

      Version of Record online: 4 APR 2006 | DOI: 10.1002/ajmg.a.31210

    3. Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion (pages 1108–1110)

      Andreas Tzschach, Ines Krause-Plonka, Corinna Menzel, Andreas Knoblauch, Holger Toennies, Maria Hoeltzenbein, Michael Radke, Hans-Hilger Ropers and Vera Kalscheuer

      Version of Record online: 17 APR 2006 | DOI: 10.1002/ajmg.a.31226

  4. Research Letters

    1. Top of page
    2. Conference Reports
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Maternal genotype for the monocyte chemoattractant protein 1 A(-2518)G promoter polymorphism is associated with the risk of spina bifida in offspring (pages 1114–1118)

      Liselotte E. Jensen, Analee J. Etheredge, Karen S. Brown, Laura E. Mitchell and Alexander S. Whitehead

      Version of Record online: 4 APR 2006 | DOI: 10.1002/ajmg.a.31212

    2. Congenital chylothorax in Opitz G/BBB syndrome (pages 1119–1121)

      Simone Funke, Richard Kellermayer, Márta Czakó, Joyce So, György Kosztolányi and Tibor Ertl

      Version of Record online: 17 APR 2006 | DOI: 10.1002/ajmg.a.31224

  5. Book Reviews

    1. Top of page
    2. Conference Reports
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
  6. Correspondence

    1. Top of page
    2. Conference Reports
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Letter re: Fibula aplasia, tibial campomelia, and oligodactyly (page 1127)

      Jane A. Evans and Alison M. Elliott

      Version of Record online: 17 APR 2006 | DOI: 10.1002/ajmg.a.31228

    2. Y-chromosome microdeletions in 45,X/46,XY patients (pages 1128–1130)

      Francisco Alvarez Nava and Herminia Puerta

      Version of Record online: 17 APR 2006 | DOI: 10.1002/ajmg.a.31231

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