American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 August 2003

Volume 120A, Issue 4

Pages 447–598

  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 Reviews
    10. Book Reviews
    11. Conference Reports
    12. Genetic Drift
    13. Correspondence
    1. Living with achondroplasia in an average-sized world: An assessment of quality of life (pages 447–458)

      Sarah E. Gollust, Richard E. Thompson, Holly C. Gooding and Barbara B. Biesecker

      Article first published online: 18 JUN 2003 | DOI: 10.1002/ajmg.a.20127

    2. Case-control study of cleft lip or palate after maternal use of topical corticosteroids during pregnancy (pages 459–463)

      Matthew J. Edwards, Kingsley Agho, John Attia, Pedro Diaz, Teresa Hayes, Alice Illingworth and Laurence G. Roddick

      Article first published online: 9 APR 2003 | DOI: 10.1002/ajmg.a.20130

    3. Screening of patients with craniosynostosis: Molecular strategy (pages 470–473)

      Kathy Chun, Ahmad S. Teebi, Cyrus Azimi, Leslie Steele and Peter N. Ray

      Article first published online: 17 JUL 2003 | DOI: 10.1002/ajmg.a.20258

    4. Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease (pages 474–482)

      Richard G. Boles, Kathleen Adams, Masamichi Ito and B.U.K. Li

      Article first published online: 10 APR 2003 | DOI: 10.1002/ajmg.a.20126

    5. Characterization of terminal chromosome anomalies using multisubtelomere FISH (pages 483–489)

      Angela F. Davies, Toby L. Kirby, Zoe Docherty and Caroline Mackie Ogilvie

      Article first published online: 26 MAR 2003 | DOI: 10.1002/ajmg.a.20056

    6. Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: Further delineation of the phenotype including 40 years follow-up (pages 490–497)

      A.K. Mostert, P.F. Dijkstra, B.R.H. Jansen, J.R. van Horn, B. de Graaf, P. Heutink and D. Lindhout

      Article first published online: 18 JUN 2003 | DOI: 10.1002/ajmg.a.20034

    7. Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects (pages 498–502)

      Gen Nishimura, Rika Kizu, Yoshimaro Kijima, Kiyoshi Sakai, Yoshiharu Kawaguchi, Tomoatsu Kimura, Isao Matsushita, Shuya Shirahama, Toshiyuki Ikeda, Shiro Ikegawa and Tomonobu Hasegawa

      Article first published online: 26 MAR 2003 | DOI: 10.1002/ajmg.a.20095

    8. Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia (pages 503–508)

      Klaus W. Kjaer, Jean W. Keeling, John M. Opitz, Enid Gilbert-Barness, Ulla Hartling, Birgit Fischer Hansen and Inger Kjær

      Article first published online: 16 JUN 2003 | DOI: 10.1002/ajmg.a.20206

  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 Reviews
    10. Book Reviews
    11. Conference Reports
    12. Genetic Drift
    13. Correspondence
    1. Splenogonadal fusion-limb defect “syndrome” and associated malformations (pages 518–522)

      Fiona McPherson, Jaime L. Frias, Diane Spicer, John M. Opitz and Enid F. Gilbert-Barness

      Article first published online: 25 JUN 2003 | DOI: 10.1002/ajmg.a.10728

    2. D-2-hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses (pages 523–527)

      Nigel F. Clarke, Ian Andrews, Kevin Carpenter, Cornelis Jakobs, Marjo S. van der Knaap and Edwin P. Kirk

      Article first published online: 1 APR 2003 | DOI: 10.1002/ajmg.a.20120

    3. Abnormalities of the umbilico-portal venous system in Down syndrome: A report of two new patients (pages 528–532)

      Salvatore Pipitone, Caterina Garofalo, Giovanni Corsello, Maurizio Mongiovì, Maria Piccione, Emiliano Maresi and Velio Sperandeo

      Article first published online: 11 MAR 2003 | DOI: 10.1002/ajmg.a.20081

    4. Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter [RIGHTWARDS ARROW] p12.2)[10] (pages 533–536)

      S. Sauter, G. von Beust, P. Burfeind, A. Weise, H. Starke, T. Liehr and B. Zoll

      Article first published online: 11 APR 2003 | DOI: 10.1002/ajmg.a.20089

  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 Reviews
    10. Book Reviews
    11. Conference Reports
    12. Genetic Drift
    13. Correspondence
    1. Toriello–Carey syndrome associated with respiratory failure and non-mechanical ileus (pages 537–541)

      Tatsuki R. Kataoka, Akihiko Ito, Tasuku Nakabori, Yu-ichiro Koma, Hiroshi Nakai, Shinkichi Kamata and Yukihiko Kitamura

      Article first published online: 26 MAR 2003 | DOI: 10.1002/ajmg.a.20094

  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 Reviews
    10. Book Reviews
    11. Conference Reports
    12. Genetic Drift
    13. Correspondence
  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 Reviews
    10. Book Reviews
    11. Conference Reports
    12. Genetic Drift
    13. Correspondence
    1. Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review (pages 547–552)

      Susann Schweiger, Rabih Chaoui, Cornelia Tennstedt, Katarina Lehmann, Stefan Mundlos and Sigrid Tinschert

      Article first published online: 26 MAR 2003 | DOI: 10.1002/ajmg.a.20062

  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 Reviews
    10. Book Reviews
    11. Conference Reports
    12. Genetic Drift
    13. Correspondence
    1. Severely delayed epiphyseal ossification dysplasia with normal stature (pages 553–556)

      Clarisse Baumann, Catherine Garel, Lucille Vuillemain, Max Hassan and Alain Verloes

      Article first published online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.20046

    2. Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X (pages 557–561)

      Tomoko Ida, Norio Miharu, Michiko Hayashitani, Osamu Shimokawa, Naoki Harada, Osamu Samura, Takeo Kubota, Norio Niikawa and Dr. Naomichi Matsumoto

      Article first published online: 11 MAR 2003 | DOI: 10.1002/ajmg.a.20096

  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 Reviews
    10. Book Reviews
    11. Conference Reports
    12. Genetic Drift
    13. Correspondence
    1. On macrocephaly, epilepsy, autism, specific facial features, and mental retardation (pages 564–565)

      Carlos Eduardo Steiner, Marilisa Mantovani Guerreiro and Antonia Paula Marques-de-Faria

      Article first published online: 11 FEB 2003 | DOI: 10.1002/ajmg.a.20032

    2. Do genetic polymorphisms of serotonin (5-HT) neurotransmission influence function in humans? (pages 566–567)

      P.L. Strickland, S. John, A. Payton, J. Worthington, W.E.R. Ollier and J.F.W. Deakin

      Article first published online: 19 JUN 2003 | DOI: 10.1002/ajmg.a.20187

  8. Research Reviews

    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 Reviews
    10. Book Reviews
    11. Conference Reports
    12. Genetic Drift
    13. Correspondence
    1. Conjoined twins: Morphogenesis of the heart and a review (pages 568–582)

      Enid Gilbert-Barness, Diane Debich-Spicer and John M. Opitz

      Article first published online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.10195

  9. Book Reviews

    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 Reviews
    10. Book Reviews
    11. Conference Reports
    12. Genetic Drift
    13. Correspondence
    1. Book Review (page 588)

      Nicola Longo

      Article first published online: 29 APR 2003 | DOI: 10.1002/ajmg.a.20244

  10. Conference 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 Reviews
    10. Book Reviews
    11. Conference Reports
    12. Genetic Drift
    13. Correspondence
  11. Genetic Drift

    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 Reviews
    10. Book Reviews
    11. Conference Reports
    12. Genetic Drift
    13. Correspondence
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  12. Correspondence

    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 Reviews
    10. Book Reviews
    11. Conference Reports
    12. Genetic Drift
    13. Correspondence

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