American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

22 November 2002

Volume 113, Issue 2

Pages 125–228

Currently known as: American Journal of Medical Genetics Part A

  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
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    2. Genetic testing for hearing loss: Different motivations for the same outcome (pages 137–143)

      Orit Dagan, Hagit Hochner, Haya Levi, Annick Raas-Rothschild and Michal Sagi

      Article first published online: 7 AUG 2002 | DOI: 10.1002/ajmg.10676

    3. Gender differences in psychosocial reactions to cystic fibrosis carrier testing (pages 151–157)

      Jamie E. Newman, James R. Sorenson, Brenda M. DeVellis and Brian Cheuvront

      Article first published online: 14 AUG 2002 | DOI: 10.1002/ajmg.10736

    4. Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy (pages 167–172)

      Micheala A. Aldred, Salim Aftimos, Christine Hall, Katie S. Waters, Rajesh V. Thakker, Richard C. Trembath and Louise Brueton

      Article first published online: 24 OCT 2002 | DOI: 10.1002/ajmg.10751

    5. Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): Dosage effect of IGF1R? (pages 173–177)

      Toshiro Nagai, Osamu Shimokawa, Naoki Harada, Satoru Sakazume, Hirofumi Ohashi, Naomichi Matsumoto, Kazuo Obata, Atsunori Yoshino, Nobuyuki Murakami, Takayasu Murai, Ryoichi Sakuta and Norio Niikawa

      Article first published online: 7 AUG 2002 | DOI: 10.1002/ajmg.10717

    6. Mutational analysis of the RNX gene in congenital central hypoventilation syndrome (pages 178–182)

      Ivana Matera, Tiziana Bachetti, Roberta Cinti, Margherita Lerone, Luigi Gagliardi, Francesco Morandi, Mario Motta, Fabio Mosca, Giancarlo Ottonello, Raffaele Piumelli, Johannes G. Schober, Roberto Ravazzolo and Isabella Ceccherini

      Article first published online: 7 AUG 2002 | DOI: 10.1002/ajmg.10746

  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
    1. Simvastatin treatment in the SLO syndrome: A safe approach? (pages 183–189)

      Lena Starck, Anita Lövgren-Sandblom and Ingemar Björkhem

      Article first published online: 6 AUG 2002 | DOI: 10.1002/ajmg.10722

  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
  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
    1. Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2 (pages 200–206)

      Maria Rita Passos-Bueno, Lucia Maria Armelin, Luís Garcia Alonso, Isaac Neustein, Andréa L. Sertié, Kikue Abe, Rita de Cássia Pavanello, Lívia C. Elkis and Célia P. Koiffmann

      Article first published online: 15 AUG 2002 | DOI: 10.1002/ajmg.10752

  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
    1. Provisional new syndrome of MR/MCA with evolving phenotype (pages 213–217)

      Yves Lacassie, Éva Morava and Ivan LaMotta

      Article first published online: 7 AUG 2002 | DOI: 10.1002/ajmg.10747

  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
    1. Pure partial trisomy 7q: Two new patients and review (pages 218–224)

      Laura Rodríguez, Fermina López, Luis Paisán, Maria del Mar Portugués de la Red, Angeles Maria Ruiz, Manuel Blanco, Jesús Antelo Cortizas and María Luisa Martínez-Frías

      Article first published online: 27 AUG 2002 | DOI: 10.1002/ajmg.10719

  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
    1. Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy (pages 225–226)

      Retno Sutomo, Tomoko Akutsu, Yasuhiro Takeshima, Hisahide Nishio, Ahmad Hamim Sadewa, Yosuke Harada and Masafumi Matsuo

      Article first published online: 14 AUG 2002 | DOI: 10.1002/ajmg.10744

  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

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