American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

30 July 2003

Volume 120A, Issue 3

Pages 309–446

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letter
    10. Research Letters
    11. Correspondence
    12. Erratum
    1. Prevalence of trisomy 21 following folic acid food fortification (pages 309–313)

      Joel G. Ray, Chris Meier, Marian J. Vermeulen, David E.C. Cole and Philip R. Wyatt

      Version of Record online: 14 APR 2003 | DOI: 10.1002/ajmg.a.20161

    2. Morphology of the 45,X embryo: An embryoscopic study (pages 314–319)

      Tom Philipp and Dagmar K. Kalousek

      Version of Record online: 23 MAY 2003 | DOI: 10.1002/ajmg.a.20205

    3. Heat shock protein 27 gene: Chromosomal and molecular location and relationship to Williams syndrome (pages 320–325)

      A. Dean Stock, Patricia A. Spallone, Thomas R. Dennis, Dale Netski, Colleen A. Morris, Carolyn B. Mervis and Holly H. Hobart

      Version of Record online: 1 APR 2003 | DOI: 10.1002/ajmg.a.20055

    4. Visual–spatial performance deficits in children with neurofibromatosis type-1 (pages 326–330)

      Gregory W. Schrimsher, Rebecca L. Billingsley, John M. Slopis and Bartlett D. Moore III

      Version of Record online: 25 FEB 2003 | DOI: 10.1002/ajmg.a.20048

    5. Upper airway malformation associated with partial trisomy 11q (pages 331–337)

      Hui-quan Zhao, Alan F. Rope, Howard M. Saal, Ruthann I. Blough-Pfau and Robert J. Hopkin

      Version of Record online: 9 APR 2003 | DOI: 10.1002/ajmg.a.20134

    6. Perinatal-lethal Gaucher disease (pages 338–344)

      C. Mignot, A. Gelot, B. Bessières, F. Daffos, M. Voyer, F. Menez, C. Fallet Bianco, S. Odent, D. Le Duff, P. Loget, P. Fargier, J. Costil, P. Josset, J. Roume, MT. Vanier, I. Maire and T. Billette de Villemeur

      Version of Record online: 14 APR 2003 | DOI: 10.1002/ajmg.a.20117

    7. A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads (pages 345–349)

      Yong Lu, Chenhong Guo, Qiji Liu, Xiyu Zhang, Lin Cheng, Jiangxia Li, Bingxi Chen, Guimin Gao, Haibin Zhou, Yishou Guo, Yefu Li and Yaoqin Gong

      Version of Record online: 21 MAR 2003 | DOI: 10.1002/ajmg.a.20090

    8. Vestibular dysfunction in adult patients with osteogenesis imperfecta (pages 350–358)

      K. Kuurila, E. Kentala, S. Karjalainen, S. Pynnönen, O. Kovero, I. Kaitila, R. Grénman and J. Waltimo

      Version of Record online: 21 MAR 2003 | DOI: 10.1002/ajmg.a.20088

    9. Life insurance and breast cancer risk assessment: Adverse selection, genetic testing decisions, and discrimination (pages 359–364)

      Katrina Armstrong, Barbara Weber, Genevieve FitzGerald, John C. Hershey, Mark V. Pauly, Jean Lemaire, Krupa Subramanian and David A. Asch

      Version of Record online: 11 APR 2003 | DOI: 10.1002/ajmg.a.20025

    10. Ring 21 chromosome and a satellited 1p in the same patient: Novel origin for an ectopic NOR (pages 365–369)

      Anita Ki, Katherine A. Rauen, Lauri D. Black, Dana R. Kostiner, Per L. Sandberg, Daniel Pinkel, Donna G. Albertson, Mary E. Norton and Philip D. Cotter

      Version of Record online: 6 MAY 2003 | DOI: 10.1002/ajmg.a.20236

    11. EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma (pages 370–373)

      Keiko Akahoshi, Satoru Sakazume, Kenjiro Kosaki, Hirofumi Ohashi and Yoshimitsu Fukushima

      Version of Record online: 9 APR 2003 | DOI: 10.1002/ajmg.a.20064

    12. Medical geneticists' duty to warn at-risk relatives for genetic disease (pages 374–380)

      Marni J. Falk, R. Beth Dugan, Mary Ann O'Riordan, Anne L. Matthews and Nathaniel H. Robin

      Version of Record online: 29 APR 2003 | DOI: 10.1002/ajmg.a.20227

    13. A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5 (pages 381–385)

      Piranit N. Kantaputra, Yupada Pongprot, Oranud Praditsap, Theeraphong Pho-iam and Chanin Limwongse

      Version of Record online: 7 FEB 2003 | DOI: 10.1002/ajmg.a.20040

    14. A newly recognized autosomal recessive syndrome with abnormal vertebral ossification, rib abnormalities, and nephrogenic rests (pages 386–388)

      Federico Prefumo, Tessa Homfray, Iona Jeffrey, Isabella Moore and Baskaran Thilaganathan

      Version of Record online: 11 MAR 2003 | DOI: 10.1002/ajmg.a.20097

    15. Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction: A new syndrome? (pages 389–394)

      M. Salerno, G. Amabile, C. Mandato, S. Di Maio, M. Lecora, E.V. Avvedimento and G. Andria

      Version of Record online: 23 MAY 2003 | DOI: 10.1002/ajmg.a.20107

    16. RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund–Thomson patient (pages 395–399)

      Alessandro Beghini, Pierangela Castorina, Gaia Roversi, Philippe Modiano and Lidia Larizza

      Version of Record online: 23 MAY 2003 | DOI: 10.1002/ajmg.a.20154

  2. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letter
    10. Research Letters
    11. Correspondence
    12. Erratum
    1. Johnson–McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: Report of a new case (pages 400–405)

      Daniela N. Schweitzer, Shoji Yano, Dawn L. Earl and John M. Graham Jr.

      Version of Record online: 10 APR 2003 | DOI: 10.1002/ajmg.a.20085

  3. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letter
    10. Research Letters
    11. Correspondence
    12. Erratum
    1. Fetus-in-fetu form of monozygotic twinning with retroperitoneal teratoma (pages 406–412)

      Enid Gilbert-Barness, John M. Opitz, Diane Debich-Spicer, Thomas Mueller, Sonya R. Arnold and Reuben Quintero

      Version of Record online: 23 MAY 2003 | DOI: 10.1002/ajmg.a.10153

  4. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letter
    10. Research Letters
    11. Correspondence
    12. Erratum
  5. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letter
    10. Research Letters
    11. Correspondence
    12. Erratum
    1. Factors affecting performance of prenatal genetic testing by Israeli Jewish women (pages 418–422)

      Carron Sher, Orly Romano-Zelekha, Manfred S. Green and Tamy Shohat

      Version of Record online: 4 MAR 2003 | DOI: 10.1002/ajmg.a.20047

    2. Bowen–Conradi syndrome: A clinical and genetic study (pages 423–428)

      R.B. Lowry, A.M. Innes, F.P. Bernier, D.R. McLeod, C.R. Greenberg, A.E. Chudley, B. Chodirker, S.L. Marles, M.J. Crumley, J.C. Loredo-Osti, K. Morgan and T.M. Fujiwara

      Version of Record online: 1 APR 2003 | DOI: 10.1002/ajmg.a.20059

  6. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letter
    10. Research Letters
    11. Correspondence
    12. Erratum
    1. Distal monosomy 18p/distal trisomy 20p—A recognizable facial phenotype? (pages 429–433)

      Dagmar Wieczorek, Oliver Bartsch and Gabriele Gillessen-Kaesbach

      Version of Record online: 11 MAR 2003 | DOI: 10.1002/ajmg.a.20060

  7. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letter
    10. Research Letters
    11. Correspondence
    12. Erratum
    1. Complete androgen insensitivity syndrome due to X chromosome inversion: A clinical report (pages 434–436)

      Weizhen Xu, Claudia Robert, Paul S. Thornton and Nancy B. Spinner

      Version of Record online: 10 FEB 2003 | DOI: 10.1002/ajmg.a.20043

  8. Research Letter

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letter
    10. Research Letters
    11. Correspondence
    12. Erratum
    1. Very long eyelashes, long eyebrows, sparse hair, and mental retardation in two unrelated boys: An atypical form of Oliver–McFarlane syndrome without retinal degeneration, or a new clinical entity? (pages 437–438)

      Tatsuro Kondoh, Nagisa Amamoto, Tetsuya Hirota, Eiichi Kinoshita, Hiroyuki Moriuchi, Tadashi Matsumoto, Masayuki Shimono, Akihiro Kawakami and Akira Shirahata

      Version of Record online: 28 FEB 2003 | DOI: 10.1002/ajmg.a.20049

  9. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letter
    10. Research Letters
    11. Correspondence
    12. Erratum
    1. Methylation of ZNF261 as an assay for determining X chromosome inactivation patterns (pages 439–441)

      Christy Beever, Betty P.Y. Lai, Sarah E.L. Baldry, Maria S. Peñaherrera, Ruby Jiang, Wendy P. Robinson and Carolyn J. Brown

      Version of Record online: 11 FEB 2003 | DOI: 10.1002/ajmg.a.20045

  10. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letter
    10. Research Letters
    11. Correspondence
    12. Erratum
    1. Cardiac studies on Down syndrome infants (page 444)

      Murray Feingold

      Version of Record online: 1 APR 2003 | DOI: 10.1002/ajmg.a.20148

  11. Erratum

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Clinical Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letter
    10. Research Letters
    11. Correspondence
    12. Erratum
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