American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 February 2004

Volume 125A, Issue 1

Pages 1–112

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Letter
    6. Research Letters
    7. Book Review
    8. Correspondence
    1. Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma (pages 1–4)

      Yoshiki Toda, Sa Tang, Kenji Kashiwagi, Fumihiko Mabuchi, Hiroyuki Iijima, Shigeo Tsukahara and Zentaro Yamagata

      Version of Record online: 7 AUG 2003 | DOI: 10.1002/ajmg.a.20439

    2. Screening adherence in BRCA1/2 families is associated with primary physicians' behavior (pages 5–11)

      Susan T. Tinley, Julia Houfek, Patrice Watson, Lari Wenzel, Mary Beth Clark, Susan Coughlin and Henry T. Lynch

      Version of Record online: 30 SEP 2003 | DOI: 10.1002/ajmg.a.20431

    3. Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families (pages 17–22)

      R.E. Schultz, M.E. Cooper, S. Daack-Hirsch, M. Shi, B. Nepomucena, K.A. Graf, E.K. O'Brien, S.E. O'Brien, M.L. Marazita and J.C. Murray

      Version of Record online: 31 JUL 2003 | DOI: 10.1002/ajmg.a.20424

    4. Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate (pages 23–27)

      Susan H. Blanton, Terry Bertin, Maria E. Serna, Samuel Stal, John B. Mulliken and Jacqueline T. Hecht

      Version of Record online: 25 JUL 2003 | DOI: 10.1002/ajmg.a.20426

    5. Nonsyndromic cleft lip and palate: Four chromosomal regions of interest (pages 28–37)

      Susan H. Blanton, Terry Bertin, Sketa Patel, Samuel Stal, John B. Mulliken and Jacqueline T. Hecht

      Version of Record online: 25 JUL 2003 | DOI: 10.1002/ajmg.a.20423

    6. Physical activity and angiotensin-converting enzyme gene polymorphism in mild hypertensives (pages 38–44)

      Mikolaj Winnicki, Valentina Accurso, Michal Hoffmann, Ryszard Pawlowski, Francesca Dorigatti, Massimo Santonastaso, Daniele Longo, Barbara Krupa-Wojciechowska, Xavier Jeunemaitre, Achille C. Pessina, Virend K. Somers and Paolo Palatini

      Version of Record online: 7 AUG 2003 | DOI: 10.1002/ajmg.a.20434

    7. X-linked spondyloepiphyseal dysplasia tarda: A novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations (pages 45–48)

      Udy Bar-Yosef, Eric Ohana, Eli Hershkovitz, Sarit Perlmuter, Rivka Ofir and Ohad S. Birk

      Version of Record online: 25 JUL 2003 | DOI: 10.1002/ajmg.a.20435

    8. A new type of autosomal recessive spondyloepiphyseal dysplasia tarda (pages 49–56)

      J.G. Leroy, B.P. Leroy, L.V. Emmery, L. Messiaen and J.W. Spranger

      Version of Record online: 30 JUL 2003 | DOI: 10.1002/ajmg.a.20419

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Letter
    6. Research Letters
    7. Book Review
    8. Correspondence
    1. Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: A new syndrome? (pages 57–60)

      André Mégarbané, Simon Rassi, Farid Estephan and Edith Kouba-Hreich

      Version of Record online: 7 AUG 2003 | DOI: 10.1002/ajmg.a.20433

    2. Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): Report of a new patient and review of the literature (pages 61–66)

      André Mégarbané, Pierre Maroteaux, Catherine Caillaud and Martine Le Merrer

      Version of Record online: 31 JUL 2003 | DOI: 10.1002/ajmg.a.20442

    3. Submicroscopic deletion 9(q34.4) and duplication 19(p13.3): Identified by subtelomere specific FISH probes (pages 67–72)

      Denise I. Quigley, Kathleen Kaiser-Rogers, Arthur S. Aylsworth and Kathleen W. Rao

      Version of Record online: 29 AUG 2003 | DOI: 10.1002/ajmg.a.20457

    4. Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature (pages 73–76)

      Małgorzata J.M. Nowaczyk, Susan Zeesman, April Kam, Sherryl A.M. Taylor, Ronald F. Carter and Donald T. Whelan

      Version of Record online: 29 AUG 2003 | DOI: 10.1002/ajmg.a.20458

    5. Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12 (pages 77–85)

      Clotilde Lagier-Tourenne, E. Ginglinger, Y. Alembik, A. De Saint Martin, M.O. Peter, P. Dulucq, P. Jonveaux and E. Jeandidier

      Version of Record online: 18 AUG 2003 | DOI: 10.1002/ajmg.a.20450

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Letter
    6. Research Letters
    7. Book Review
    8. Correspondence
    1. A case of Yunis–Varon syndrome complicated with complete cleft lip and palate (pages 92–93)

      Muneichiro Sumi, Takashi Kusumoto, Tatsuro Kondoh, Hiroyuki Moriuchi, Masashi Miyamoto, Hideaki Masuzaki and Tadayuki Ishimaru

      Version of Record online: 14 JUL 2003 | DOI: 10.1002/ajmg.a.20414

    2. A 23-year-old woman with down syndrome, type 1 neurofibromatosis, and breast carcinoma (pages 94–96)

      Daniel Satgé, Annie J. Sasco, David Goldgar, Michel Vekemans and Marie-Odile Réthoré

      Version of Record online: 18 JUL 2003 | DOI: 10.1002/ajmg.a.20429

    3. Diaphragmatic hernia in 18p- syndrome (pages 97–99)

      Sibylle Strenge and Ursula G. Froster

      Version of Record online: 18 AUG 2003 | DOI: 10.1002/ajmg.a.20459

  4. Research Letter

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Letter
    6. Research Letters
    7. Book Review
    8. Correspondence
    1. Distal arthrogryposis in two sisters born to different fathers (pages 100–101)

      Wuh-Liang Hwu, Yin-Hsiu Chien and Chia-Chi Hsu

      Version of Record online: 7 AUG 2003 | DOI: 10.1002/ajmg.a.20451

  5. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Letter
    6. Research Letters
    7. Book Review
    8. Correspondence
    1. Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation (pages 102–104)

      Beate Albrecht, Manuela Liebers and Jürgen Kohlhase

      Version of Record online: 18 AUG 2003 | DOI: 10.1002/ajmg.a.20484

  6. Book Review

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Letter
    6. Research Letters
    7. Book Review
    8. Correspondence
    1. Book Review (page 105)

      J Concepción Loredo-Osti

      Version of Record online: 16 SEP 2003 | DOI: 10.1002/ajmg.a.20509

  7. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Letter
    6. Research Letters
    7. Book Review
    8. Correspondence
    1. Turner syndrome phenotype with 47,XXX karyotype: Further investigation warranted? (pages 106–107)

      Robert Wallerstein, Erica Musen, Julie McCarrier, Javier Aisenberg, Amy Chartoff, R. Gordon Hutcheon, James Tepperberg, Peter Pappenhausen and Sharon Griffin

      Version of Record online: 14 JUL 2003 | DOI: 10.1002/ajmg.a.20362

    2. 47,XXX associated with malformations (pages 108–111)

      Carrie E. Haverty, Angela E. Lin, Ellen Simpson, M. Anne Spence and Rick A. Martin

      Version of Record online: 21 OCT 2003 | DOI: 10.1002/ajmg.a.20393

SEARCH

SEARCH BY CITATION