American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 October 2003

Volume 122A, Issue 3

Pages 187–280

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Reports
    5. Book Reviews
    6. Correspondence
    1. Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double-layer patella as a reliable sign (pages 187–192)

      Outi Mäkitie, Ravi Savarirayan, Luisa Bonafé, Stephen Robertson, Miki Susic, Andrea Superti-Furga and William G. Cole

      Version of Record online: 23 MAY 2003 | DOI: 10.1002/ajmg.a.20282

    2. Mutations in CYP11B1 gene: Phenotype–genotype correlations (pages 193–200)

      Yuan-Shan Zhu, Juan J. Cordero, Selcuk Can, Li-Qun Cai, Xueke You, Cecilia Herrera, Mariano DeFillo-Ricart, Cedric Shackleton and Julianne Imperato-McGinley

      Version of Record online: 28 AUG 2003 | DOI: 10.1002/ajmg.a.20108

    3. Prenatal diagnosis of Down syndrome: Ten year experience in the Israeli population (pages 215–222)

      Mordechai Shohat, Helena Frimer, Vered Shohat-Levy, Hormoz Esmailzadeh, Zvi Appelman, Ziva Ben-Neriah, Hanna Dar, Avi Orr-Urtreger, Aliza Amiel, Ruth Gershoni, Esther Manor, Gad Barkai, Stavit Shalev, Zully Gelman-Kohen, Orit Reish, Dorit Lev, Bella Davidov and Boleslaw Goldman

      Version of Record online: 13 MAY 2003 | DOI: 10.1002/ajmg.a.20246

    4. Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation (pages 223–226)

      Sara Hammer, Naghmeh Dorrani, Jaana Hartiala, Stuart Stein and N. Carolyn Schanen

      Version of Record online: 3 JUN 2003 | DOI: 10.1002/ajmg.a.20320

    5. Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings (pages 227–233)

      E. Smeets, E. Schollen, U. Moog, G. Matthijs, J. Herbergs, H. Smeets, L. Curfs, C. Schrander-Stumpel and J.P. Fryns

      Version of Record online: 25 JUN 2003 | DOI: 10.1002/ajmg.a.20321

    6. Association between genetic variation in the Y chromosome and hypertension in myocardial infarction patients (pages 234–237)

      Eliecer Coto García, Pelayo González, Mónica G. Castro, Ruth Alvarez, Julián R. Reguero, Alberto Batalla, Arturo Cortina and Victoria Alvarez

      Version of Record online: 18 JUL 2003 | DOI: 10.1002/ajmg.a.20376

  2. Rapid Publication

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Reports
    5. Book Reviews
    6. Correspondence
    1. Association of the serotonin transporter gene with sudden infant death syndrome: A haplotype analysis (pages 238–245)

      Debra E. Weese-Mayer, Lili Zhou, Elizabeth M. Berry-Kravis, Brion S. Maher, Jean M. Silvestri and Mary L. Marazita

      Version of Record online: 29 JUL 2003 | DOI: 10.1002/ajmg.a.20427

  3. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Reports
    5. Book Reviews
    6. Correspondence
    1. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene (pages 246–251)

      Marybeth Hummel, David Cunningham, Charles J. Mullett, Richard I. Kelley and Gail E. Herman

      Version of Record online: 3 JUN 2003 | DOI: 10.1002/ajmg.a.20248

    2. Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26) (pages 261–265)

      Daniela Giardino, Palma Finelli, Giulietta Gottardi, Gabriella De Canal, Matteo Della Monica, Fortunato Lonardo, Gioacchino Scarano and Lidia Larizza

      Version of Record online: 26 JUN 2003 | DOI: 10.1002/ajmg.a.20287

    3. Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: A new constellation? (pages 266–268)

      Hüseyin Tan, Naci Cevi̇z, Orhan Baykal, Mustafa Büyükavcı and Necmettin Bilici

      Version of Record online: 15 MAY 2003 | DOI: 10.1002/ajmg.a.20250

    4. Thyroid dysfunction in a patient with aglossia (pages 274–277)

      Piranit Kantaputra and Pranoot Tanpaiboon

      Version of Record online: 10 JUL 2003 | DOI: 10.1002/ajmg.a.20269

  4. Book Reviews

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Reports
    5. Book Reviews
    6. Correspondence
  5. Correspondence

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Reports
    5. Book Reviews
    6. Correspondence

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