American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 May 2002

Volume 109, Issue 4

Pages 249–338

Currently known as: American Journal of Medical Genetics Part A

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Report
    5. Research Letter
    6. Book Review
    7. Correspondence
    1. New perspectives on the face in fetal alcohol syndrome: What anthropometry tells us (pages 249–260)

      Elizabeth S. Moore, Richard E. Ward, Paul L. Jamison, Colleen A. Morris, Patricia I. Bader and Bryan D. Hall

      Article first published online: 26 MAR 2002 | DOI: 10.1002/ajmg.10197

    2. Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations (pages 261–270)

      Lesley C. Adès, Darshikka Sreetharan, Ella Onikul, Vivienne Stockton, Karen C. Watson and Katherine J. Holman

      Article first published online: 27 MAR 2002 | DOI: 10.1002/ajmg.10333

    3. Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: A distinct syndrome? (pages 271–277)

      Melissa A. Parisi, Gad B. Kletter, Richard Grady, Michael Mitchell, Linda A. Ramsdell and Roberta A. Pagon

      Article first published online: 1 APR 2002 | DOI: 10.1002/ajmg.10350

    4. Polymorphism R25P in the gene encoding transforming growth factor-beta (TGF-β1) is a newly identified risk factor for proliferative diabetic retinopathy (pages 278–283)

      Michal Beránek, Kater̆ina Kan̆ková, Petr Benes̆, Lydie Izakovic̆ová-Hollá, Vladimír Znojil, Dobroslav Hájek, Eva Vlková and Jir̆í Vácha

      Article first published online: 11 APR 2002 | DOI: 10.1002/ajmg.10372

    5. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome (pages 284–290)

      C. Giunta, L. Nuytinck, M. Raghunath, I. Hausser, A. De Paepe and B. Steinmann

      Article first published online: 11 APR 2002 | DOI: 10.1002/ajmg.10373

    6. Searching for evidence of DFNB2 (pages 291–297)

      Lisa M. Astuto, Philip M. Kelley, James W. Askew, Michael D. Weston, Richard J.H. Smith, Abdulrahman F. Alswaid, Mona Al-Rakaf and William J. Kimberling

      Article first published online: 11 APR 2002 | DOI: 10.1002/ajmg.10384

  2. Rapid Publication

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Report
    5. Research Letter
    6. Book Review
    7. Correspondence
    1. Beta 1 integrin activation mediates adhesive differences between trisomy 21 and non-trisomic fibroblasts on type VI collagen (pages 298–305)

      Ian N. Jongewaard, Ronald M. Lauer, Douglas A. Behrendt, Shivanand Patil and Scott E. Klewer

      Article first published online: 11 APR 2002 | DOI: 10.1002/ajmg.10413

  3. Clinical Report

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Report
    5. Research Letter
    6. Book Review
    7. Correspondence
    1. Familial complex chromosomal rearrangement resulting in a recombinant chromosome (pages 311–317)

      Sue Ann Berend, Olaf A.F. Bodamer, Stuart K. Shapira, Lisa G. Shaffer and Carlos A. Bacino

      Article first published online: 27 MAR 2002 | DOI: 10.1002/ajmg.10334

    2. Spondylocarpotarsal synostosis with epiphyseal dysplasia (pages 318–322)

      Christina Honeywell, Leonard Langer and Judith Allanson

      Article first published online: 11 APR 2002 | DOI: 10.1002/ajmg.10383

    3. Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs (pages 323–327)

      André Mégarbané, Joseph H. Hersh, Eliane Chouery and Michel Fabre

      Article first published online: 1 APR 2002 | DOI: 10.1002/ajmg.10370

  4. Research Letter

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Report
    5. Research Letter
    6. Book Review
    7. Correspondence
    1. Poland anomaly with foot symbrachydactyly (pages 333–334)

      Elias O. Silva, Gabriela F. Leal and Valentina N. Carvalho

      Article first published online: 1 APR 2002 | DOI: 10.1002/ajmg.10377

  5. Book Review

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Report
    5. Research Letter
    6. Book Review
    7. Correspondence
  6. Correspondence

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Clinical Report
    5. Research Letter
    6. Book Review
    7. Correspondence
    1. Increased nuchal translucency in the first trimester as a sign of osteogenesis imperfecta (pages 336–337)

      Elsa Viora, Andrea Sciarrone, Simona Bastonero, Giuseppe Errante, Mario Campogrande, Giovanni Botta and Piergiorgio Franceschini

      Article first published online: 27 MAR 2002 | DOI: 10.1002/ajmg.10332

    2. Meier-Gorlin syndrome (page 338)

      Murray Feingold

      Article first published online: 1 APR 2002 | DOI: 10.1002/ajmg.10315

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