American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 July 2003

Volume 120A, Issue 1

Pages 1–154

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Letters
    9. Research Letter
    10. Living History Biography
    1. Designation of the TARP syndrome and linkage to Xp11.23-q13.3 without samples from affected patients (pages 1–4)

      Kyle T. Kurpinski, Patricia A. Magyari, Robert J. Gorlin, David Ng and Leslie G. Biesecker

      Version of Record online: 13 JAN 2003 | DOI: 10.1002/ajmg.a.10201

    2. Mutational analysis of the β- and δ-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy (pages 8–12)

      Nicolas Sylvius, Laetitia Duboscq-Bidot, Christiane Bouchier, Philippe Charron, Abdelaziz Benaiche, Pascale Sébillon, Michel Komajda and Eric Villard

      Version of Record online: 16 JAN 2003 | DOI: 10.1002/ajmg.a.20003

    3. Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II (pages 13–18)

      Rudy Van Coster, S. Seneca, J. Smet, R. Van Hecke, E. Gerlo, B. Devreese, J. Van Beeumen, J.G. Leroy, L. De Meirleir and W. Lissens

      Version of Record online: 17 JAN 2003 | DOI: 10.1002/ajmg.a.10202

    4. Long-term follow-up of a new case of liver glycogen synthase deficiency (pages 19–22)

      Anne Marie Laberge, Grant A. Mitchell, Gerald van de Werve and Marie Lambert

      Version of Record online: 18 MAR 2003 | DOI: 10.1002/ajmg.a.20110

    5. Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs (pages 23–27)

      Rick A. Martin, Rachel Slaugh, Marvin Natowicz, Kayla Pearlman, Eduard Orvisky, Donna Krasnewich, Robert Kleta, Marjan Huizing and William A. Gahl

      Version of Record online: 11 APR 2003 | DOI: 10.1002/ajmg.a.10246

    6. Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children (pages 28–33)

      Robert Kleta, David J. Aughton, Michael J. Rivkin, Marjan Huizing, Erin Strovel, Yair Anikster, Eduard Orvisky, Marvin Natowicz, Donna Krasnewich and William A. Gahl

      Version of Record online: 11 FEB 2003 | DOI: 10.1002/ajmg.a.20024

    7. Glutathione S-transferase mu null genotype affords protection against alcohol induced chronic pancreatitis (pages 34–39)

      Mariette Verlaan, René H.M. te Morsche, Hennie M.J. Roelofs, Robert J.F. Laheij, Jan B.M.J. Jansen, Wilbert H.M. Peters and Joost P.H. Drenth

      Version of Record online: 17 JAN 2003 | DOI: 10.1002/ajmg.a.20010

    8. Prenatal diagnosis of mosaic tetrasomy 8p (pages 44–48)

      Marie-Josée Le Bris, Pascale Marcorelles, Marie-Pierre Audrézet, Philippe Parent, Patrick Heren, Hélène Le Guern, Angèle Herry, Fréderic Morel, Michel Collet, Claude Férec and Marc De Braekeleer

      Version of Record online: 14 APR 2003 | DOI: 10.1002/ajmg.a.20199

    9. Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations (pages 49–58)

      Philippe Debeer, H. Peeters, S. Driess, L. De Smet, K. Freese, G. Matthijs, D. Bornholdt, K. Devriendt, K.-H. Grzeschik, J.-P. Fryns and M. Kalff-Suske

      Version of Record online: 23 JAN 2003 | DOI: 10.1002/ajmg.a.20018

    10. US physicians' attitudes toward genetic testing for cancer susceptibility (pages 63–71)

      A.N. Freedman, L. Wideroff, L. Olson, W. Davis, C. Klabunde, K.P. Srinath, B.B. Reeve, R.T. Croyle and R. Ballard-Barbash

      Version of Record online: 9 JAN 2003 | DOI: 10.1002/ajmg.a.10192

    11. Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina (pages 72–76)

      Lorna S. Timmreck, Mark R. Gray, Barbara Handelin, Bernice Allito, Elizabeth Rohlfs, Ann J. Davis, Gita Gidwani and Richard H. Reindollar

      Version of Record online: 29 APR 2003 | DOI: 10.1002/ajmg.a.20197

    12. Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptor (pages 77–83)

      Michael P. Wajnrajch, Joseph M. Gertner, Alisa S. Sokoloff, Irina Ten, Madeleine D. Harbison, Irène Netchine, Hiralal G. Maheshwari, David B. Goldstein, Serge Amselem, Gerhard Baumann and Rudolph L. Leibel

      Version of Record online: 9 JAN 2003 | DOI: 10.1002/ajmg.a.10209

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Letters
    9. Research Letter
    10. Living History Biography
    1. Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome (pages 84–87)

      Verena Ricci, Mirella Filocamo, Stefano Regis, Fabio Corsolini, Marina Stroppiano, Marco Di Duca and Rosanna Gatti

      Version of Record online: 8 JAN 2003 | DOI: 10.1002/ajmg.a.10215

    2. Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia (pages 88–91)

      Salvatore Grosso, Maria Angela Farnetani, Rosario Berardi, Gabriella Bartalini, Marilisa Carpentieri, Paolo Galluzzi, Rosa Mostardini, Guido Morgese and Paolo Balestri

      Version of Record online: 26 DEC 2002 | DOI: 10.1002/ajmg.a.10171

    3. Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia (pages 92–96)

      Carlo Bellini, Massimo Mazzella, Cesare Arioni, Corradino Campisi, Gioconda Taddei, Paolo Tomà, Francesco Boccardo, Raoul C. Hennekam and Giovanni Serra

      Version of Record online: 8 APR 2003 | DOI: 10.1002/ajmg.a.20180

    4. Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review (pages 97–104)

      Marja W. Wessels, Nicolette J. Den Hollander, Ronald R. De Krijger, Peter G.J. Nikkels, Helen Brandenburg, Raoul Hennekam and Patrick J. Willems

      Version of Record online: 29 APR 2003 | DOI: 10.1002/ajmg.a.20202

  3. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Letters
    9. Research Letter
    10. Living History Biography
    1. Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma (pages 105–109)

      Angela Punnett, Ikuko Teshima, Elise Heon, Andrew Budning, Joanne Sutherland, Brenda L. Gallie and Helen S.L. Chan

      Version of Record online: 21 MAR 2003 | DOI: 10.1002/ajmg.a.20116

  4. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Letters
    9. Research Letter
    10. Living History Biography
  5. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Letters
    9. Research Letter
    10. Living History Biography
  6. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Letters
    9. Research Letter
    10. Living History Biography
    1. Inv dup del(4)(:p14 [RIGHTWARDS ARROW] p16.3::p16.3 [RIGHTWARDS ARROW] qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome (pages 123–126)

      Yuki Kondoh, Takaya Toma, Hirofumi Ohashi, Naoki Harada, Ko-ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa and Naomichi Matsumoto

      Version of Record online: 23 APR 2003 | DOI: 10.1002/ajmg.a.20208

    2. Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q (pages 127–135)

      Shelly R. Gunn, Mansoor Mohammed, Xavier T. Reveles, David H. Viskochil, Janice C. Palumbos, Teresa L. Johnson-Pais, Daniel E. Hale, Jack L. Lancaster, L. Jean Hardies, Odile Boespflug-Tanguy, Jannine D. Cody and Robin J. Leach

      Version of Record online: 25 FEB 2003 | DOI: 10.1002/ajmg.a.20026

  7. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Letters
    9. Research Letter
    10. Living History Biography
    1. Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans (pages 139–141)

      Brooke S. Wright, Ngozi A. Nwokoro, Christopher A. Wassif, Forbes D. Porter, John S. Waye, Barry Eng and Małgorzata J.M. Nowaczyk

      Version of Record online: 17 JAN 2003 | DOI: 10.1002/ajmg.a.10207

  8. Research Letter

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Letters
    9. Research Letter
    10. Living History Biography
    1. Patient with a deletion of chromosome 21q and minimal phenotype (pages 142–143)

      Hilary Tinkel-Vernon, Scott Finkemagel, Franklin Desposito, Carol Pittore, Kathleen Reynolds and Leonard Sciorra

      Version of Record online: 21 MAR 2003 | DOI: 10.1002/ajmg.a.10210

  9. Living History Biography

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Clinical Report
    7. Clinical Reports
    8. Research Letters
    9. Research Letter
    10. Living History Biography
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