American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 July 2002

Volume 110, Issue 3

Pages 195–300

Currently known as: American Journal of Medical Genetics Part A

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Research Articles
    5. Clinical Report
    6. Research Letters
    7. Research Letter
    8. Book Reviews
    9. Correspondence
    1. Testing for genetic associations with the PAX gene family in a spina bifida population (pages 195–202)

      K.A. Volcik, S.H. Blanton, M.C. Kruzel, I.T. Townsend, G.H. Tyerman, R.J. Mier and H. Northrup

      Version of Record online: 29 APR 2002 | DOI: 10.1002/ajmg.10434

    2. SNPs in the CpG island of NAP1L2: A possible link between DNA methylation and neural tube defects? (pages 208–214)

      Ute Christine Rogner, Patrick Danoy, Fumihiko Matsuda, Gudrun Elizabeth Moore, Philip Stanier and Philip Avner

      Version of Record online: 1 MAY 2002 | DOI: 10.1002/ajmg.10453

    3. T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families (pages 215–218)

      Marcy C. Speer, Elizabeth C. Melvin, Kristi D. Viles, Kim A. Bauer, Evadnie Rampersaud, Courtney Drake, Timothy M. George, David S. Enterline, Joanne F. Mackey, Gordon Worley, John R. Gilbert and Jeffery S. Nye

      Version of Record online: 8 MAY 2002 | DOI: 10.1002/ajmg.10436

    4. Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman (pages 219–225)

      Anna Rajab, Kirsten Heathcote, Surendra Joshi, Steve Jeffery and Michael Patton

      Version of Record online: 15 MAY 2002 | DOI: 10.1002/ajmg.10437

    5. Prevalence of the fragile X syndrome in African-Americans (pages 226–233)

      Dana C. Crawford, Kellen L. Meadows, James L. Newman, Lisa F. Taft, Elizabeth Scott, Mary Leslie, Lisa Shubek, Patricia Holmgreen, Marshalyn Yeargin-Allsopp, Coleen Boyle and Stephanie L. Sherman

      Version of Record online: 1 MAY 2002 | DOI: 10.1002/ajmg.10427

    6. Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia (pages 234–242)

      Zhihua Han, Simon C. Heath, Dvora Shmulewitz, Wentian Li, Steve B. Auerbach, Maude L. Blundell, Thomas Lehner, Jurg Ott, Markus Stoffel, Jeffrey M. Friedman and Jan L. Breslow

      Version of Record online: 7 MAY 2002 | DOI: 10.1002/ajmg.10445

    7. Expanding phenotype of XNP mutations: Mild to moderate mental retardation (pages 243–247)

      Helger G. Yntema, Francis A. Poppelaars, Esther Derksen, Astrid R. Oudakker, Tanja van Roosmalen, Anja Jacobs, Hanneke Obbema, Han G. Brunner, Ben C.J. Hamel and Hans van Bokhoven

      Version of Record online: 1 MAY 2002 | DOI: 10.1002/ajmg.10446

    8. Familial dysautonomia: Detection of the IKBKAP IVS20+6T [RIGHTWARDS ARROW] C and R696P mutations and frequencies among Ashkenazi Jews (pages 253–257)

      Jianli Dong, Lisa Edelmann, Asghar M. Bajwa, Ruth Kornreich and Robert J. Desnick

      Version of Record online: 29 APR 2002 | DOI: 10.1002/ajmg.10450

    9. Chromosome 13q neocentromeres: Molecular cytogenetic characterization of three additional cases and clinical spectrum (pages 258–267)

      Shulan Li, Paul Malafiej, Brynn Levy, Radma Mahmood, Michael Field, Thomas Hughes, Lillian H. Lockhart, Zhanhe Wu, Melissa Huang, Kurt Hirschhorn, Golpalrao V.N. Velagaleti, Art Daniel and Peter E. Warburton

      Version of Record online: 7 MAY 2002 | DOI: 10.1002/ajmg.10454

  2. Rapid Publication

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Research Articles
    5. Clinical Report
    6. Research Letters
    7. Research Letter
    8. Book Reviews
    9. Correspondence
    1. Paternal UPD14 is responsible for a distinctive malformation complex (pages 268–272)

      Kenji Kurosawa, Hiroyuki Sasaki, Yoshiaki Sato, Michiko Yamanaka, Mitsumasa Shimizu, Yuji Ito, Torayuki Okuyama, Mari Matsuo, Kiyoshi Imaizumi, Yoshikazu Kuroki and Gen Nishimura

      Version of Record online: 30 MAY 2002 | DOI: 10.1002/ajmg.10404

  3. Research Articles

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Research Articles
    5. Clinical Report
    6. Research Letters
    7. Research Letter
    8. Book Reviews
    9. Correspondence
    1. Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects (pages 273–277)

      Andrew H. Lane, Naghma Aijaz, Patricia Galvin-Parton, Joseph Lanman, Robert Mangano and Thomas A. Wilson

      Version of Record online: 1 MAY 2002 | DOI: 10.1002/ajmg.10462

  4. Clinical Report

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Research Articles
    5. Clinical Report
    6. Research Letters
    7. Research Letter
    8. Book Reviews
    9. Correspondence
    1. Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: Clinical report and review of the literature (pages 278–282)

      Regine Schubert, Thomas Eggermann, Cornelia Hofstaetter, Barbara von Netzer, Gisela Knöpfle and Gesa Schwanitz

      Version of Record online: 1 MAY 2002 | DOI: 10.1002/ajmg.10442

  5. Research Letters

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Research Articles
    5. Clinical Report
    6. Research Letters
    7. Research Letter
    8. Book Reviews
    9. Correspondence
    1. Novel de novo mutation of MADH4/SMAD4 in a patient with juvenile polyposis (pages 289–291)

      Bettina Burger, Siegfried Uhlhaas, Elisabeth Mangold, Peter Propping, Waltraut Friedl, Dieter Jenne, Gerhard Dockter and Walter Back

      Version of Record online: 15 MAY 2002 | DOI: 10.1002/ajmg.10411

  6. Research Letter

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Research Articles
    5. Clinical Report
    6. Research Letters
    7. Research Letter
    8. Book Reviews
    9. Correspondence
    1. Transposition of the great arteries in asplenia and polysplenia phenotypes (pages 292–294)

      Bruno Marino, Rossella Capolino, M. Cristina Digilio and Roberto Di Donato

      Version of Record online: 1 MAY 2002 | DOI: 10.1002/ajmg.10376

  7. Book Reviews

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

    1. Top of page
    2. Research Articles
    3. Rapid Publication
    4. Research Articles
    5. Clinical Report
    6. Research Letters
    7. Research Letter
    8. Book Reviews
    9. Correspondence
    1. No threat to board certified geneticists and genetic counselors (page 297)

      Joseph D. McInerney and Jean Jenkins

      Version of Record online: 25 APR 2002 | DOI: 10.1002/ajmg.10386

    2. Reply to correspondence by McInerney and Jenkins (pages 298–299)

      Reed E. Pyeritz and Karen Greendale

      Version of Record online: 15 MAY 2002 | DOI: 10.1002/ajmg.10387

    3. Higher tPA levels are associated with Apo E (page 300)

      Michael Andrew Meyer

      Version of Record online: 15 MAY 2002 | DOI: 10.1002/ajmg.10378

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