American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 August 2004

Volume 128A, Issue 4

Pages 333–440

  1. Rapid Publications

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Editorial Comments
    6. Research Letters
    7. Correspondence
    1. Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley–Bixler syndrome (pages 333–339)

      Masanori Adachi, Katsuhiko Tachibana, Yumi Asakura, Toshiyuki Yamamoto, Keiichi Hanaki and Akira Oka

      Version of Record online: 12 MAY 2004 | DOI: 10.1002/ajmg.a.30169

  2. Research Articles

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Editorial Comments
    6. Research Letters
    7. Correspondence
    1. Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome (pages 340–351)

      Douglas R. Stewart, Alina Huang, Francesca Faravelli, Britt-Marie Anderlid, Livija Medne, Karen Ciprero, Maninder Kaur, Elena Rossi, Romano Tenconi, Magnus Nordenskjöld, Karen W. Gripp, Linda Nicholson, Wendy S. Meschino, Esther Capua, Oliver W.J. Quarrell, Jonathon Flint, Mira Irons, Philip F. Giampietro, David B. Schowalter, Christina A. Zaleski, Michela Malacarne, Elaine H. Zackai, Nancy B. Spinner and Ian D. Krantz

      Version of Record online: 14 JUL 2004 | DOI: 10.1002/ajmg.a.30136

    2. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature (pages 352–363)

      Amy E. Roberts, Gerald F. Cox, Virginia Kimonis, Allen Lamb and Mira Irons

      Version of Record online: 6 JUL 2004 | DOI: 10.1002/ajmg.a.30142

    3. Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33 (pages 364–373)

      Sabine Walter, Klaus Sandig, Georg K. Hinkel, Beate Mitulla, Katrin Ounap, Giles Sims, Mari Sitska, Barbara Utermann, Petra Viertel, Vera Kalscheuer and Oliver Bartsch

      Version of Record online: 11 JUN 2004 | DOI: 10.1002/ajmg.a.30160

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      Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome (pages 396–400)

      Marni E. Axelrad, Rochelle Glidden, Linda Nicholson and Karen W. Gripp

      Version of Record online: 21 JUN 2004 | DOI: 10.1002/ajmg.a.30140

    5. A novel MSX1 mutation in hypodontia (pages 401–403)

      S. De Muynck, E. Schollen, G. Matthijs, A. Verdonck, K. Devriendt and C. Carels

      Version of Record online: 21 JUN 2004 | DOI: 10.1002/ajmg.a.30181

    6. Mesomelic dysplasia, Kantaputra type: Clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation (pages 404–409)

      M.L. Kwee, J.A. van de Sluijs, J.M.G. van Vugt, L.C.D. Wijnaendts and J.J.P. Gille

      Version of Record online: 18 MAY 2004 | DOI: 10.1002/ajmg.a.30120

  3. Clinical Reports

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Editorial Comments
    6. Research Letters
    7. Correspondence
    1. Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype (pages 410–413)

      N. Chassaing, P. De Mas, M. Tauber, M.C. Vincent, S. Julia, G. Bourrouillou, P. Calvas and E. Bieth

      Version of Record online: 21 JUN 2004 | DOI: 10.1002/ajmg.a.30199

    2. New autosomal recessive syndrome with short stature and facio–auriculo–thoracic malformations (pages 414–417)

      André Mégarbané, Linda Daou, Hala Mégarbané, Hélène Cave, Eliane Chouery and Alain Verloes

      Version of Record online: 21 JUN 2004 | DOI: 10.1002/ajmg.a.30239

    3. Primary trabeculodysgenesis in association with neonatal Marfan syndrome (pages 418–421)

      Charlotte M. Whitelaw, Samira Anwar, Lesley C. Adès, Glen A. Gole, James E. Elder and Ravi Savarirayan

      Version of Record online: 21 JUN 2004 | DOI: 10.1002/ajmg.a.30139

    4. Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype (pages 422–428)

      Genesio Rita, De Brasi Daniele, Conti Anna, Borghese Annamaria, Di Micco Pasqua, Di Costanzo Pasquale, Paladini Dario, Ungaro Paola and Prof. Nitsch Lucio

      Version of Record online: 25 MAY 2004 | DOI: 10.1002/ajmg.a.30112

  4. Editorial Comments

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Editorial Comments
    6. Research Letters
    7. Correspondence
    1. Endangered species (pages 429–430)

      Leslie Biesecker

      Version of Record online: 21 JUN 2004 | DOI: 10.1002/ajmg.a.30202

  5. Research Letters

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Editorial Comments
    6. Research Letters
    7. Correspondence
    1. Mutations in IRF6 do not cause Bartsocas–Papas syndrome in a family with two affected sibs (pages 431–433)

      A.L. Shanske, S.A. Hoper, K. Krahn and B.C. Schutte

      Version of Record online: 17 JUN 2004 | DOI: 10.1002/ajmg.a.30096

    2. Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers–Danlos syndrome (pages 436–438)

      Rosanna Pallotta, Anne De Paepe, Tamara Ehresmann, Lieve Nuytinck and Paola Fusilli

      Version of Record online: 14 JUN 2004 | DOI: 10.1002/ajmg.a.20576

  6. Correspondence

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Clinical Reports
    5. Editorial Comments
    6. Research Letters
    7. Correspondence
    1. A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses (pages 439–440)

      P. Debeer, E. Baten, C. Huysmans, W.J.M. Van de Ven, J.-P. Fryns and K. Devriendt

      Version of Record online: 21 JUN 2004 | DOI: 10.1002/ajmg.a.30152

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