American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 June 2005

Volume 135A, Issue 3

Pages 237–346

  1. Research Reviews

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

    1. Top of page
    2. Research Reviews
    3. Research Articles
    4. Clinical Reports
    5. Invited Comments
    6. Research Letters
    7. Correspondence
    8. Corrigenda
    1. Shprintzen–Goldberg syndrome: Fourteen new patients and a clinical analysis (pages 251–262)

      Peter N. Robinson, Luitgard M. Neumann, Stephanie Demuth, Herbert Enders, Ursula Jung, Rainer König, Beate Mitulla, Dietmar Müller, Petra Muschke, Lutz Pfeiffer, Bettina Prager, Mirja Somer and Sigrid Tinschert

      Article first published online: 9 MAY 2005 | DOI: 10.1002/ajmg.a.30431

    2. Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil (pages 263–267)

      Luciana Rodrigues Jacy da Silva, Naja Vergani, Luciano de Camargo Galdieri, Marianna Picarelli Ribeiro Porto, Silvia Bragagnolo Longhitano, Decio Brunoni, Vânia D'Almeida and Ana Beatriz Alvarez Perez

      Article first published online: 11 MAY 2005 | DOI: 10.1002/ajmg.a.30591

    3. Polymorphisms in DNA repair genes as risk factors for spina bifida and orofacial clefts (pages 268–273)

      Andrew F. Olshan, G.M. Shaw, R.C. Millikan, C. Laurent and R.H. Finnell

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30713

    4. Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? (pages 274–277)

      Huiping Zhu, Stacey Curry, Shu Wen, Ned J. Wicker, Gary M. Shaw, Edward J. Lammer, Wei Yang, Toghrul Jafarov and Richard H. Finnell

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30739

    5. Immune abnormalities are a frequent manifestation of Kabuki syndrome (pages 278–281)

      Jodi D. Hoffman, Karen L. Ciprero, Kathleen E. Sullivan, Paige B. Kaplan, Donna M. McDonald-McGinn, Elaine H. Zackai and Jeffrey E. Ming

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30722

    6. Autosomal dominant inheritance of spondyloenchondrodysplasia (pages 282–288)

      R. Bhargava, N.J. Leonard, A.K.J. Chan and J. Spranger

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30732

    7. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria (pages 289–291)

      Venu T. Tadiboyina, Anthony Rupar, Paul Atkison, Annette Feigenbaum, Jonathan Kronick, Jian Wang and Robert A. Hegele

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30748

  3. Clinical Reports

    1. Top of page
    2. Research Reviews
    3. Research Articles
    4. Clinical Reports
    5. Invited Comments
    6. Research Letters
    7. Correspondence
    8. Corrigenda
    1. A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism (pages 292–296)

      Antonio Balsamo, Alessandra Antelli, Lilia Baldazzi, Federico Baronio, Dina Lazareva, Alessandra Cassio and Alessandro Cicognani

      Article first published online: 9 MAY 2005 | DOI: 10.1002/ajmg.a.30689

    2. Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome (pages 297–301)

      Hester Y. Kroes, Rutger-Jan A.J. Nievelstein, Peter G. Barth, Peter G.J. Nikkels, Carsten Bergmann, Rob H.J.M. Gooskens, Gepke Visser, Hans-Kristian Ploos van Amstel and Frits A. Beemer

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30690

    3. Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti (pages 302–303)

      Ian M. Hayes, George Varigos, Edward J. Upjohn, David C. Orchard, Dan J. Penny and Ravi Savarirayan

      Article first published online: 9 MAY 2005 | DOI: 10.1002/ajmg.a.30698

    4. Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl (pages 304–307)

      Dieter Kotzot, Edda Haberlandt, Christine Fauth, Sara Baumgartner, Sabine Scholl-Bürgi and Gerd Utermann

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30727

    5. Xq chromosome duplication in males: Clinical, cytogenetic and array CGH characterization of a new case and review (pages 308–313)

      Sabrina F. Cheng, Katherine A. Rauen, Daniel Pinkel, Donna G. Albertson and Philip D. Cotter

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30613

    6. Mayer–Rokitansky–Küster–Hauser anomaly and its associated malformations (pages 314–316)

      Siobhán T. Pittock, Dusica Babovic-Vuksanovic and Aida Lteif

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30721

    7. Tel Hashomer camptodactyly syndrome: 12-year follow-up of a Hungarian patient and review (pages 320–323)

      Béla Melegh, Katalin Hollódy, Mária Aszmann and Károly Méhes

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30736

    8. Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location (pages 324–327)

      Tiong Yang Tan, George McGillivray, Louise Kornman, A. Michelle Fink, Andrea Superti-Furga, Luisa Bonafé, David I. Francis and Ravi Savarirayan

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30754

    9. Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia (pages 328–332)

      Robert A. Saul, Virginia Proud, Harold A. Taylor, Jules G. Leroy and Jurgen Spranger

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30716

  4. Invited Comments

    1. Top of page
    2. Research Reviews
    3. Research Articles
    4. Clinical Reports
    5. Invited Comments
    6. Research Letters
    7. Correspondence
    8. Corrigenda
    1. Distinguishing Pacman dysplasia from mucolipidosis II: Comment on Saul et al. [2005] (page 333)

      William R. Wilcox, David A. Wenger, Ralph S. Lachman and David L. Rimoin

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30717

  5. Research Letters

    1. Top of page
    2. Research Reviews
    3. Research Articles
    4. Clinical Reports
    5. Invited Comments
    6. Research Letters
    7. Correspondence
    8. Corrigenda
    1. Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty (pages 336–338)

      Stefan Aretz, Ruth Raff, Joachim Woelfle, Klaus Zerres, Marianne Esser, Peter Propping and Thomas Eggermann

      Article first published online: 10 MAY 2005 | DOI: 10.1002/ajmg.a.30755

    2. Long-term follow-up in a patient with metatropic dysplasia (pages 342–343)

      D. Geneviève, M. Le Merrer, A. Munnich, P. Maroteaux and V. Cormier-Daire

      Article first published online: 11 MAY 2005 | DOI: 10.1002/ajmg.a.30710

  6. Correspondence

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

    1. Top of page
    2. Research Reviews
    3. Research Articles
    4. Clinical Reports
    5. Invited Comments
    6. Research Letters
    7. Correspondence
    8. Corrigenda
    1. You have free access to this content
      Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS (Am J Med Genet 125A: 167–172) (page 346)

      Megan P. Hitchins, Sarah Rickard, Fatima Dhalla, Bert B.A. de Vries, Robin Winter, Marcus E. Pembrey and Sue Malcolm

      Article first published online: 20 MAY 2005 | DOI: 10.1002/ajmg.a.30606

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