American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 March 2006

Volume 140A, Issue 5

Pages 413–539

  1. Conference Reports

    1. Top of page
    2. Conference Reports
    3. Invited Comments
    4. Research Articles
    5. Clinical Reports
    6. Research Reviews
    7. Research Letters
    8. Book Reviews
    9. Correspondence
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      Angelman syndrome 2005: Updated consensus for diagnostic criteria (pages 413–418)

      Charles A. Williams, Arthur L. Beaudet, Jill Clayton-Smith, Joan H. Knoll, Martin Kyllerman, Laura A. Laan, R. Ellen Magenis, Ann Moncla, Albert A. Schinzel, Jane A. Summers and Joseph Wagstaff

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31074

  2. Invited Comments

    1. Top of page
    2. Conference Reports
    3. Invited Comments
    4. Research Articles
    5. Clinical Reports
    6. Research Reviews
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. AGTR2 in brain development and function (pages 419–420)

      Virginie S. Vervoort, Greagory Guzauskas, John Archie, Charles E. Schwartz, Roger E. Stevenson and Anand K. Srivastava

      Article first published online: 3 FEB 2006 | DOI: 10.1002/ajmg.a.31046

  3. Research Articles

    1. Top of page
    2. Conference Reports
    3. Invited Comments
    4. Research Articles
    5. Clinical Reports
    6. Research Reviews
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia (pages 421–426)

      Luitgard M. Neumann, Vincent El Ghouzzi, Vincent Paupe, Hans-Peter Weber, Elisabeth Fastnacht, Andreas Leenen, Sigrid Lyding, Anne Klusmann, Ertan Mayatepek, Jörg Pelz and Valerie Cormier-Daire

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31090

    2. Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease (pages 427–433)

      Marie Bækvad-Hansen, Zeynep Tümer, Alicia Delicado, Fikret Erdogan, Niels Tommerup and Lars A. Larsen

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31087

    3. Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation (pages 442–452)

      Paweł Stankiewicz, Alma Kuechler, C. Daniel Eller, Trilochan Sahoo, Christiane Baldermann, Ulla Lieser, Martin Hesse, Christiane Gläser, Monika Hagemann, Svetlana A. Yatsenko, Thomas Liehr, Bernhard Horsthemke, Uwe Claussen, York Marahrens, James R. Lupski and Ingo Hansmann

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31096

    4. Inverse association between severe nausea and vomiting in pregnancy and some congenital abnormalities (pages 453–462)

      Andrew E. Czeizel, Erzsébet Puhó, Nándor Ács and Ferenc Bánhidy

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31097

    5. Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations (pages 463–470)

      Pınar Bayrak-Toydemir, Jamie McDonald, Boaz Markewitz, Susan Lewin, Franklin Miller, Lan-Szu Chou, Friederike Gedge, Wei Tang, Hillary Coon and Rong Mao

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31101

    6. Klinefelter syndrome and mediastinal germ cell tumors (pages 471–481)

      Thomas M.K. Völkl, Thorsten Langer, Thomas Aigner, Holger Greess, Jörn D. Beck, Anita M. Rauch and Helmuth G. Dörr

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31103

    7. A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family (pages 482–487)

      Elisabetta Tabolacci, M. Grazia Pomponi, Roberta Pietrobono, Alessandra Terracciano, Pietro Chiurazzi and Giovanni Neri

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31107

  4. Clinical Reports

    1. Top of page
    2. Conference Reports
    3. Invited Comments
    4. Research Articles
    5. Clinical Reports
    6. Research Reviews
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay (pages 488–495)

      Jörg Weimer, Simone Metzke-Heidemann, Hansjörg Plendl, Almuth Caliebe, Regina Grunewald, Katrin Õunap, Pille Tammur, Walter Jonat, Oliver Bartsch, Reiner Siebert and Norbert Arnold

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31104

    2. Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences (pages 496–502)

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

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31105

    3. Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous (pages 503–508)

      Katsuhiro Suzuki, Makoto Nakamura, Emi Amano, Kumiko Mokuno, Shoichiro Shirai and Hiroko Terasaki

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31085

    4. Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2 (pages 509–514)

      Susan Zeesman, Małgorzata J.M. Nowaczyk, Ikuko Teshima, Wendy Roberts, Janis Oram Cardy, Jessica Brian, Lili Senman, Lars Feuk, Lucy R. Osborne and Stephen W. Scherer

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31110

  5. Research Reviews

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

    1. Top of page
    2. Conference Reports
    3. Invited Comments
    4. Research Articles
    5. Clinical Reports
    6. Research Reviews
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Discordant encephalocele in monozygotic twins (pages 525–526)

      V. de P. Djientcheu, A. Wonkam, A.K. Njamnshi, P. Ongolo-Zogo, B. Rilliet and M.A. Morris

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31065

    2. The biallelic expression pattern of X-linked genes in Klinefelter syndrome by pyrosequencing (pages 527–532)

      In Hyuk Chung, Han Chul Lee, Jung Hoon Park, Jung Jae Ko, Sook Hwan Lee, Tae-Gyu Chung, Hyun-Joo Kim, Kwang-Yul Cha and Suman Lee

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31102

    3. Chimerism in twins: Caution is needed in interpretation of karyotypes (pages 533–535)

      Sylvie Bourthoumieu, Francoise Esclaire and Catherine Yardin

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31111

  7. Book Reviews

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

    1. Top of page
    2. Conference Reports
    3. Invited Comments
    4. Research Articles
    5. Clinical Reports
    6. Research Reviews
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Extended mutational analyses of FGFR1 in osteoglophonic dysplasia (pages 537–539)

      Emily G. Farrow, Siobhan I. Davis, Sean D. Mooney, Peter Beighton, Leo Mascarenhas, Yvonne R. Gutierrez, Pisit Pitukcheewanont and Kenneth E. White

      Article first published online: 6 FEB 2006 | DOI: 10.1002/ajmg.a.31106

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