American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 December 2002

Volume 113, Issue 3

Pages 229–313

Currently known as: American Journal of Medical Genetics Part A

  1. Invited Comments

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Research Letter
    9. Book Review
    10. Erratum
  2. Research Articles

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Research Letter
    9. Book Review
    10. Erratum
    1. Autism, regression, and the broader autism phenotype (pages 231–237)

      Janet E. Lainhart, Sally Ozonoff, Hilary Coon, Lori Krasny, Elena Dinh, Julie Nice and William McMahon

      Version of Record online: 11 JUN 2002 | DOI: 10.1002/ajmg.10615

    2. Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome (pages 238–241)

      Doff B. McElhinney, Michele Straka, Elizabeth Goldmuntz and Elaine H. Zackai

      Version of Record online: 15 AUG 2002 | DOI: 10.1002/ajmg.10803

    3. Association of ulcerative colitis with the inflammatory bowel disease susceptibility locus IBD2 in non-Jewish Caucasians and evidence of genetic heterogeneity among racial and ethnic populations with Crohn disease (pages 242–249)

      Sonja M.S. Uthoff, Nigel P.S. Crawford, M. Robert Eichenberger, Crystal J. Hamilton, Robert E. Petras, Eden R. Martin and Susan Galandiuk

      Version of Record online: 13 AUG 2002 | DOI: 10.1002/ajmg.10762

    4. Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients (pages 250–257)

      Mehmet Okyay Kılınç, Vasiliki Ninidu Ninis, Elif Dağlı, Mübeccel Demirkol, Ferda Özkınay, Zeliha Arıkan, Özgür Çoğulu, Gülden Hüner, Fazilet Karakoç and Aslıhan Tolun

      Version of Record online: 15 AUG 2002 | DOI: 10.1002/ajmg.10721

    5. Does the current consent process minimize the risks of genetics research? (pages 258–262)

      Dave Wendler, Kiran Prasad and Benjamin Wilfond

      Version of Record online: 15 AUG 2002 | DOI: 10.1002/ajmg.10818

    6. Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence (pages 263–267)

      Juliana Godoy Assumpção, Windy Berkofsky-Fessler, Nilma Viguetti Campos, Andréa Trevas Maciel-Guerra, Shulan Li, Maria Isabel Melaragno, Maricilda Palandi de Mello and Peter E. Warburton

      Version of Record online: 2 AUG 2002 | DOI: 10.1002/ajmg.10701

    7. Juvenile myoclonic epilepsy: Linkage to chromosome 6p12 in Mexico families (pages 268–274)

      Dongsheng Bai, Maria E. Alonso, Marco T. Medina, Julia N. Bailey, Ryoji Morita, Sergio Cordova, Astrid Rasmussen, Jaime Ramos-Peek, Adriana Ochoa, Aurelio Jara, Francisco R. Donnadieu, Gilbert Cadena, Kazuhiro Yamakawa and Antonio V. Delgado-Escueta

      Version of Record online: 2 AUG 2002 | DOI: 10.1002/ajmg.10724

    8. Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion (pages 275–278)

      Isabelle Korn-Lubetzki, Zohar Argov, Annick Raas-Rothschild, Itzchak Wirguin and Israel Steiner

      Version of Record online: 14 AUG 2002 | DOI: 10.1002/ajmg.10725

    9. An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female (pages 279–285)

      Mary Shago, Michael Sgro, Tony Barozzino, Daniel Antinucci, Pranesh Chakraborty, David Chitayat and Ikuko Teshima

      Version of Record online: 15 AUG 2002 | DOI: 10.1002/ajmg.10789

  3. Clinical Report

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Research Letter
    9. Book Review
    10. Erratum
  4. Research Articles

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Research Letter
    9. Book Review
    10. Erratum
    1. Oral, facial, digital, vertebral anomalies with psychomotor delay: A mild form of OFD type Gabrielli? (pages 291–294)

      Giovanni Battista Ferrero, Mariella Valenzise, Brunella Franco, Claudio Defilippi, Giuliana Gregato, Giovanni Corsello, Ernesto Pepe and Margherita Silengo

      Version of Record online: 15 AUG 2002 | DOI: 10.1002/ajmg.10815

  5. Clinical Report

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Research Letter
    9. Book Review
    10. Erratum
    1. Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: Report of a case (pages 295–297)

      Miroslav Dumić, Marijana Cvitanović, Borna Ŝarić, Anita Ŝpehar and Stipe Batinica

      Version of Record online: 15 AUG 2002 | DOI: 10.1002/ajmg.10783

  6. Clinical Reports

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Research Letter
    9. Book Review
    10. Erratum
    1. Del(1)(q23) in a patient with Hutchinson-Gilford progeria (pages 298–301)

      Wilmer Delgado Luengo, Augusto Rojas Martínez, Rocío Ortíz López, Caridad Martínez Basalo, Alicia Rojas-Atencio, Maribel Quintero, Lisbeth Borjas, Alisandra Morales-Machín, Sandra González Ferrer, Lennie Pineda Bernal, Jenny Cañizalez-Tarazona, Joaquín Peña, Juana Delgado Luengo, José Chacín Hernández and José Chong Chang

      Version of Record online: 14 AUG 2002 | DOI: 10.1002/ajmg.10753

    2. Teebi hypertelorism syndrome: Report of a family with previously unrecognized findings (pages 302–306)

      Anne Chun-Hui Tsai, Jacqualyn R. Robertson and Ahmad S. Teebi

      Version of Record online: 28 OCT 2002 | DOI: 10.1002/ajmg.10870

  7. Research Letter

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Research Letter
    9. Book Review
    10. Erratum
    1. Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation (pages 307–308)

      Angélica Alliende, Bianca Curotto, Lorena Santa Maria, Fanny Cortés and Mariana Aracena

      Version of Record online: 15 AUG 2002 | DOI: 10.1002/ajmg.10799

  8. Book Review

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Research Letter
    9. Book Review
    10. Erratum
  9. Erratum

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Report
    5. Research Articles
    6. Clinical Report
    7. Clinical Reports
    8. Research Letter
    9. Book Review
    10. Erratum
    1. You have free access to this content

SEARCH

SEARCH BY CITATION