American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 December 2004

Volume 131A, Issue 3

Pages 227–329

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Clinical Reports
    5. Invited Comments
    6. Research Letters
    7. Correspondence
    1. Reevaluating confined placental mosaicism (pages 232–239)

      Gail Stetten, Cathleen S. Escallon, Sarah T. South, Joseph L. McMichael, Daniel O. Saul and Karin J. Blakemore

      Article first published online: 4 NOV 2004 | DOI: 10.1002/ajmg.a.30363

    2. Craniofacial structure in Marfan syndrome: A cephalometric study (pages 240–248)

      Peter De Coster, Guy De Pauw, Luc Martens and Anne De Paepe

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30393

    3. Multisystem study of 20 older adults with Williams syndrome (pages 255–264)

      Elizabeth M. Cherniske, Thomas O. Carpenter, Cheryl Klaiman, Eytan Young, Joel Bregman, Karl Insogna, Robert T. Schultz and Barbara R. Pober

      Article first published online: 8 NOV 2004 | DOI: 10.1002/ajmg.a.30400

    4. Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies (pages 265–372)

      Daniela Ehling, Ingo Kennerknecht, Annelore Junge, Bettina Prager, Rita Exeler, Beate Behre, Juergen Horst, Thomas Schmitt-John, Oliver Bartsch and Jutta Wirth

      Article first published online: 8 NOV 2004 | DOI: 10.1002/ajmg.a.30361

    5. De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern (pages 273–280)

      G. Tachdjian, A. Aboura, M. Benkhalifa, I. Creveaux, L. Foix-Hélias, J.F. Gadisseux, O. Boespflug-Tanguy, M. Mohammed and P. Labrune

      Article first published online: 3 NOV 2004 | DOI: 10.1002/ajmg.a.30359

    6. A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus (pages 281–286)

      Cagri Yildirim-Toruner, Kavitha Subramanian, Lamya El Manjra, Emily Chen, Stanley Goldstein and Emilia Vitale

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30390

  2. Rapid Publications

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Clinical Reports
    5. Invited Comments
    6. Research Letters
    7. Correspondence
  3. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Clinical Reports
    5. Invited Comments
    6. Research Letters
    7. Correspondence
    1. Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome (pages 299–300)

      Andreas Zankl, Gudrun Jaeger, Luisa Bonafé, Eugen Boltshauser and Andrea Superti-Furga

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30366

    2. Two sisters with Silver–Russell phenotype (pages 301–306)

      Katrin Õunap, Tiia Reimand, Marja-Liis Mägi and Oliver Bartsch

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30379

    3. Autosomal dominant flat umbilicus (pages 307–309)

      Alexander K.C. Leung and D. Ross McLeod

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30395

    4. Opitz “C” trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q (pages 310–312)

      Márta Czakó, Mariluce Riegel, Éva Morava, Katalin Bajnóczky and György Kosztolányi

      Article first published online: 11 NOV 2004 | DOI: 10.1002/ajmg.a.30249

  4. Invited Comments

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Clinical Reports
    5. Invited Comments
    6. Research Letters
    7. Correspondence
    1. Precision in phenotyping and genotyping (page 313)

      Jannine D. Cody and Daniel E. Hale

      Article first published online: 11 NOV 2004 | DOI: 10.1002/ajmg.a.30263

  5. Research Letters

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Clinical Reports
    5. Invited Comments
    6. Research Letters
    7. Correspondence
    1. Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum? (pages 318–319)

      Benjamin D. Lemire, J.R. Buncic, Shelley J. Kennedy, Sarah J. Dyack and Ahmad S. Teebi

      Article first published online: 7 OCT 2004 | DOI: 10.1002/ajmg.a.30341

    2. DUP25 remains unconfirmed (pages 320–321)

      Stefan J. Vermeulen, Björn Menten, Sylvia De Bie, Paul Coucke, Bart Loeys, Fransiska Malfait, Julie De Backer, Frank Speleman and Anne De Paepe

      Article first published online: 22 SEP 2004 | DOI: 10.1002/ajmg.a.30343

    3. Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization (pages 322–324)

      David A. Koolen, Joris A. Veltman, Willy O. Renier, Richard P. Droog, Ad Geurts van Kessel and Bert B.A. de Vries

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30377

    4. Intelligence in individuals with a neurofibromatosis type 1 microdeletion (pages 325–326)

      M.J. Descheemaeker, K. Roelandts, T. De Raedt, H. Brems, J.P. Fryns and E. Legius

      Article first published online: 7 OCT 2004 | DOI: 10.1002/ajmg.a.30346

  6. Correspondence

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Clinical Reports
    5. Invited Comments
    6. Research Letters
    7. Correspondence

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