American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

30 August 2005

Volume 137A, Issue 2

Pages 117–234

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews
    9. Correspondence
    1. Marshall–Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities (pages 117–124)

      Margaret P. Adam, Raoul C.M. Hennekam, Laura Davis Keppen, Marilyn J. Bull, Carol L. Clericuzio, Leah W. Burke, Kelly E. Ormond and Eugene H. Hoyme

      Version of Record online: 5 AUG 2005 | DOI: 10.1002/ajmg.a.30580

  2. New Syndrome

    1. Top of page
    2. Research Articles
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews
    9. Correspondence
    1. You have free access to this content
      Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A family report of a probably autosomal recessive trait (pages 125–129)

      Christian Tiemann, Christoph Bührer, Barbara Burwinkel, Michael Wirtenberger, Thomas Hoehn, Christoph Hübner, Frank K.H. van Landeghem, Gisela Stoltenburg and Michael Obladen

      Version of Record online: 29 JUL 2005 | DOI: 10.1002/ajmg.a.30860

  3. Research Articles

    1. Top of page
    2. Research Articles
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews
    9. Correspondence
    1. Analysis of NF1 transcriptional regulatory elements (pages 130–135)

      Tsz Kin (Bernard) Lee and J.M. Friedman

      Version of Record online: 29 JUL 2005 | DOI: 10.1002/ajmg.a.30699

    2. Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2 (pages 136–138)

      Peter Huppke, Andreas Ohlenbusch, Cornelia Brendel, Franco Laccone and Jutta Gärtner

      Version of Record online: 5 AUG 2005 | DOI: 10.1002/ajmg.a.30764

    3. Molecular and phenotypic characterization of ring chromosome 22 (pages 139–147)

      Aaron R Jeffries, Sarah Curran, Frances Elmslie, Ajay Sharma, Sharon Wenger, Marybeth Hummel and John Powell

      Version of Record online: 29 JUL 2005 | DOI: 10.1002/ajmg.a.30780

    4. Male-to-male transmission in Laurin–Sandrow syndrome and exclusion of RARB and RARG (pages 148–152)

      Klaus W. Kjaer, Lars Hansen, Hans Eiberg, Knud Stenild Christensen, John M. Opitz and Niels Tommerup

      Version of Record online: 29 JUL 2005 | DOI: 10.1002/ajmg.a.30820

    5. Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia (pages 153–160)

      Justine H. Cohen, Marie E. Faughnan, Michelle Letarte, Kirk Vandezande, Shelley J. Kennedy and Murray D. Krahn

      Version of Record online: 29 JUL 2005 | DOI: 10.1002/ajmg.a.30838

    6. Geneticists' views on science policy formation and public outreach (pages 161–169)

      Debra J.H. Mathews, Andrea Kalfoglou and Kathy Hudson

      Version of Record online: 4 AUG 2005 | DOI: 10.1002/ajmg.a.30849

    7. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy (pages 170–175)

      Sara Seneca, Nathalie Goemans, Rudy Van Coster, Patrice Givron, Tony Reybrouck, Raf Sciot, Ann Meulemans, Joel Smet and Johan L.K. Van Hove

      Version of Record online: 29 JUL 2005 | DOI: 10.1002/ajmg.a.30854

    8. Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries (pages 176–180)

      Gerardo Piacentini, M. Cristina Digilio, Rossella Capolino, Andrea De Zorzi, Alessandra Toscano, Anna Sarkozy, Rita D'Agostino, Maurizio Marasini, M. Giovanna Russo, Bruno Dallapiccola and Bruno Marino

      Version of Record online: 29 JUL 2005 | DOI: 10.1002/ajmg.a.30859

    9. Schizencephaly: Heterogeneous etiologies in a population of 4 million California births (pages 181–189)

      Cynthia J. Curry, Edward J. Lammer, Verne Nelson and Gary M. Shaw

      Version of Record online: 29 JUL 2005 | DOI: 10.1002/ajmg.a.30862

    10. Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases (pages 190–198)

      Manuela Morleo, Tiziano Pramparo, Lucia Perone, Giuliana Gregato, Cedric Le Caignec, Robert F. Mueller, Tsutomu Ogata, Annick Raas-Rothschild, Marie Christine de Blois, Louise C. Wilson, Gerald Zaidman, Orsetta Zuffardi, Andrea Ballabio and Brunella Franco

      Version of Record online: 29 JUL 2005 | DOI: 10.1002/ajmg.a.30864

  4. Clinical Reports

    1. Top of page
    2. Research Articles
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews
    9. Correspondence
    1. Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome (pages 204–207)

      P. Callier, L. Faivre, V. Cusin, N. Marle, C. Thauvin-Robinet, D. Sandre, T. Rousseau, P. Sagot, E. Lacombe, V. Faber and F. Mugneret

      Version of Record online: 29 JUL 2005 | DOI: 10.1002/ajmg.a.30783

    2. A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage (pages 208–212)

      Jennifer J.D. Morrissette, Livija Medne, Tyrone Bentley, Nancy L. Owens, Elizabeth Geiger, Mary Pipan, Elaine H. Zackai, Tamim Shaikh and Nancy B. Spinner

      Version of Record online: 4 AUG 2005 | DOI: 10.1002/ajmg.a.30845

  5. Research Letters

    1. Top of page
    2. Research Articles
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews
    9. Correspondence
    1. Patient with a non-mosaic isodicentric Yp and mild developmental delay (pages 223–224)

      Katherine R. Neas, Moh-Ying Yip, Con James and Edwin P.E. Kirk

      Version of Record online: 4 AUG 2005 | DOI: 10.1002/ajmg.a.30740

    2. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness (pages 225–227)

      Delphine Feldmann, Françoise Denoyelle, Hélène Blons, Stanislas Lyonnet, Natalie Loundon, Isabelle Rouillon, Smail Hadj-Rabia, Christine Petit, Rémy Couderc, Eréa-Noel Garabédian and Sandrine Marlin

      Version of Record online: 29 JUL 2005 | DOI: 10.1002/ajmg.a.30765

  6. Research Reviews

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

    1. Top of page
    2. Research Articles
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Research Reviews
    8. Book Reviews
    9. Correspondence
    1. Book review (page 232)

      Joel Zlotogora

      Version of Record online: 5 AUG 2005 | DOI: 10.1002/ajmg.a.30216

  8. Correspondence

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

SEARCH

SEARCH BY CITATION