American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 November 2005

Volume 138A, Issue 4

Pages 307–415

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Book Reviews
    7. Correspondence
    8. Errata
    1. Clinical features of 78 adults with 22q11 deletion syndrome (pages 307–313)

      Anne S. Bassett, Eva W.C. Chow, Janice Husted, Rosanna Weksberg, Oana Caluseriu, Gary D. Webb and Michael A. Gatzoulis

      Version of Record online: 5 OCT 2005 | DOI: 10.1002/ajmg.a.30984

    2. Sensorineural hearing loss in children and adults with Williams syndrome (pages 318–327)

      Jeffrey A. Marler, Jill L. Elfenbein, Brenda M. Ryals, Zsolt Urban and Michael L. Netzloff

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30970

    3. A 72-year-old Danish puzzle resolved—comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions (pages 328–339)

      Klaus W. Kjaer, Lars Hansen, Hans Eiberg, Algirdas Utkus, Lene T. Skovgaard, Pernille Leicht, John M. Opitz and Niels Tommerup

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30971

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Book Reviews
    7. Correspondence
    8. Errata
    1. Interstitial deletion of chromosome 12q: Genotype–phenotype correlation of two patients utilizing array comparative genomic hybridization (pages 349–354)

      Ophir D. Klein, Philip D. Cotter, Ann M. Schmidt, David P. Bick, William E. Tidyman, Donna G. Albertson, Daniel Pinkel and Katherine A. Rauen

      Version of Record online: 30 SEP 2005 | DOI: 10.1002/ajmg.a.30867

    2. Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm (pages 355–360)

      Luke J. Boyd, Joseph S. Livingston, Michael G. Brown, Helen J. Lawce, Joseph T. Gilhooly, Robert S. Wildin, Leesa M. Linck, R. Ellen Magenis and De-Ann M. Pillers

      Version of Record online: 21 SEP 2005 | DOI: 10.1002/ajmg.a.30895

    3. New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation (pages 365–368)

      M. García-Hoyos, R. Sanz, D. Diego-Álvarez, I. Lorda-Sánchez, M.J. Trujillo-Tiebas, D. Cantalapiedra, C. Ramos and C. Ayuso

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30987

    4. Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity (pages 374–378)

      Ali Al Kaissi, Farid Ben Chehida, Hassan Gharbi, Maher Ben Ghachem, Lotfi Hendaoui and Raoul C.M. Hennekam

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30968

    5. Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene (pages 379–383)

      K. Szczaluba, K. Hilbert, E. Obersztyn, B. Zabel, T. Mazurczak and K. Kozlowski

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30969

    6. Hypertrichosis in patients with SURF1 mutations (pages 384–388)

      Elsebet Østergaard, Irena Bradinova, Susanne Holst Ravn, Flemming Juul Hansen, Emil Simeonov, Ernst Christensen, Flemming Wibrand and Marianne Schwartz

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30972

    7. Medial temporal lobe dysgenesis in hypochondroplasia (pages 389–391)

      Peter Kannu, Ian M Hayes, Simone Mandelstam, Leo Donnan and Ravi Savarirayan

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30974

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Book Reviews
    7. Correspondence
    8. Errata
    1. A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12 (pages 392–395)

      Rehan Sadiq Shaikh, Khushnooda Ramzan, Sabiha Nazli, Sameera Sattar, Shaheen N. Khan, Saima Riazuddin, Zubair M. Ahmed, Thomas B. Friedman and Sheikh Riazuddin

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30949

    2. Transitory hypogammaglobulinemia of infancy in FG syndrome (pages 396–398)

      A. Finocchi, P. Palma, P. Rossi, J.M. Opitz and G. Neri

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30950

    3. A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene (pages 399–400)

      Hirotaka Fujioka, Tadashi Ariga, Minako Yoda, Masaya Ohsaki, Katsumi Horiuchi, Makoto Otsu, Tsuneki Sugihara and Yukio Sakiyama

      Version of Record online: 12 SEP 2005 | DOI: 10.1002/ajmg.a.30964

  4. Research Reviews

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Book Reviews
    7. Correspondence
    8. Errata
    1. XK-aprosencephaly and related entities (pages 401–410)

      G. Renzetti, A. Villani, C. Bizzarri, L. Chessa, E. Vignati, A. Gianotti, M. Cappa, Juliana Szakacs, Jeanette J. Townsend, Mark E. Miller, John M. Opitz, Anne M. Kennedy and Janice L. Byrne

      Version of Record online: 5 OCT 2005 | DOI: 10.1002/ajmg.a.30600

  5. Book Reviews

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

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Book Reviews
    7. Correspondence
    8. Errata
    1. Correct usage of “loss of imprinting” (page 412)

      Ryuji Fukuzawa, Anthony E. Reeve and Ian M. Morison

      Version of Record online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30986

  7. Errata

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Book Reviews
    7. Correspondence
    8. Errata
    1. You have free access to this content
      Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralog Vangl1 in neural tube defect patients (Am J Med Genet 136A: 90–92, 2005) (page 415)

      K. Doudney, G.E. Moore, P. Stanier, P. Ybot-Gonzalez, C. Paternotte, N.D.E. Greene, A.J. Copp and R.E. Stevenson

      Version of Record online: 20 OCT 2005 | DOI: 10.1002/ajmg.a.30931

SEARCH

SEARCH BY CITATION