American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

30 January 2004

Volume 124A, Issue 3

Pages 225–332

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Invited Comment
    5. Book Review
    6. Correspondence
    1. Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries (pages 225–230)

      Christopher A. Loffredo, Anand Chokkalingam, Anne M. Sill, Joann A. Boughman, Edward B. Clark, Janet Scheel and Joel I. Brenner

      Version of Record online: 11 JUL 2003 | DOI: 10.1002/ajmg.a.20366

    2. Autosomal recessive frontotemporal pachygyria (pages 231–238)

      Dorian Ramirez, Edward J. Lammer, Caroline B. Johnson and Cynthia D. Peterson

      Version of Record online: 25 JUN 2003 | DOI: 10.1002/ajmg.a.20388

    3. Onset and progression of disease in familial and sporadic Parkinson's disease (pages 255–258)

      R. Inzelberg, E. Schecthman, D. Paleacu, L. Zach, R. Bonwitt, R.L. Carasso and P. Nisipeanu

      Version of Record online: 14 JUL 2003 | DOI: 10.1002/ajmg.a.20405

    4. Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation (pages 259–262)

      T.J.L. de Ravel, J.P. Fryns, J. Van Driessche and J.R. Vermeesch

      Version of Record online: 25 SEP 2003 | DOI: 10.1002/ajmg.a.20372

    5. “Everybody in the world is my friend” hypersociability in young children with Williams syndrome (pages 263–273)

      Teresa F. Doyle, Ursula Bellugi, Julie R. Korenberg and John Graham

      Version of Record online: 13 AUG 2003 | DOI: 10.1002/ajmg.a.20416

    6. Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies (pages 274–279)

      Charles P. Venditti, Piper Hunt, Alan Donnenfeld, Elaine Zackai and Nancy B. Spinner

      Version of Record online: 25 JUL 2003 | DOI: 10.1002/ajmg.a.20430

    7. FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6 (pages 280–287)

      Hui Z. Zhang, Peining Li, Dongmei Wang, Shannon Huff, Manjunath Nimmakayalu, Mazin Qumsiyeh and Barbara R. Pober

      Version of Record online: 31 JUL 2003 | DOI: 10.1002/ajmg.a.20413

    8. Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes (pages 288–291)

      D. Marcus-Soekarman, G. Hamers, S. Velzeboer, J. Nijhuis, W.H. Loneus, J. Herbergs, C. de Die-Smulders, C. Schrander-Stumpel and J. Engelen

      Version of Record online: 7 AUG 2003 | DOI: 10.1002/ajmg.a.20403

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Invited Comment
    5. Book Review
    6. Correspondence
    1. Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat (pages 292–295)

      Mary Ann Thomas, Alessandra M.V. Duncan, Claudette Bardin and Vazken M. Der Kaloustian

      Version of Record online: 7 AUG 2003 | DOI: 10.1002/ajmg.a.20373

    2. Gonadal mosaicism in severe Pallister–Hall syndrome (pages 296–302)

      David Ng, Jennifer J. Johnston, Joyce T. Turner, Eilis A. Boudreau, Edythe A. Wiggs, William H. Theodore and Leslie G. Biesecker

      Version of Record online: 9 JUN 2003 | DOI: 10.1002/ajmg.a.20338

    3. A unique patient with an Ullrich–Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q (pages 303–306)

      A.J. Dawson, D.E. Wickstrom, D. Riordan, S. Cardwell, R. Casey, S. Baldry and C. Brown

      Version of Record online: 3 JUN 2003 | DOI: 10.1002/ajmg.a.20302

    4. Kousseff syndrome: A causally heterogeneous disorder (pages 307–312)

      K. Maclean, M.J. Field, A.S. Colley, D.R. Mowat, D.B. Sparrow, S.L. Dunwoodie and E.P.E. Kirk

      Version of Record online: 25 JUL 2003 | DOI: 10.1002/ajmg.a.20418

    5. Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome (pages 313–317)

      Sulagna C. Saitta, Stacy E. Harris, Donna M. McDonald-McGinn, Beverly S. Emanuel, Melissa K. Tonnesen, Elaine H. Zackai, Suzanne C. Seitz and Deborah A. Driscoll

      Version of Record online: 8 AUG 2003 | DOI: 10.1002/ajmg.a.20421

    6. Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation (pages 318–322)

      Dusica Babovic-Vuksanovic, S.C. Jenkins, R. Ensenauer, D.C. Newman and S.M. Jalal

      Version of Record online: 30 JUN 2003 | DOI: 10.1002/ajmg.a.20391

    7. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Report of a new family with additional features and review (pages 323–327)

      Hala Mégarbané, Cynthia Zablit, Naji Waked, Gérard Lefranc, Roland Tomb and André Mégarbané

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.20352

  3. Invited Comment

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Invited Comment
    5. Book Review
    6. Correspondence
    1. What is IFAP syndrome? (page 328)

      Rudolf Happle

      Version of Record online: 16 JUL 2003 | DOI: 10.1002/ajmg.a.20353

  4. Book Review

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Invited Comment
    5. Book Review
    6. Correspondence
  5. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Invited Comment
    5. Book Review
    6. Correspondence
    1. Association of nonsyndromic Wilms tumor with premature centromere division (page 332)

      Károly Méhes, P. Kajtár and G. Kosztolányi

      Version of Record online: 9 JUN 2003 | DOI: 10.1002/ajmg.a.20311

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