American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

30 January 2005

Volume 132A, Issue 3

Pages 233–342

  1. Invited Comments

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Rapid Publications
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Symposium introduction (page 233)

      Judith E. Allanson and Constance Schrander-Stumpel

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30330

  2. Research Articles

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Rapid Publications
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management (pages 234–243)

      Constance Th.R.M. Schrander-Stumpel, Liesbeth Spruyt, Leopold M.G. Curfs, Truus Defloor and Jaap J.P. Schrander

      Article first published online: 3 DEC 2004 | DOI: 10.1002/ajmg.a.30331

    2. Neonatal phenotype in Kabuki syndrome (pages 244–247)

      Keith K. Vaux, Louanne Hudgins, Lynne M. Bird, Elizabeth Roeder, Cynthia J.R. Curry, Marilyn Jones and Kenneth L. Jones

      Article first published online: 16 DEC 2004 | DOI: 10.1002/ajmg.a.30336

    3. Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: A preliminary study (pages 248–255)

      Carolyn B. Mervis, Angela M. Becerra, Melissa L. Rowe, Joseph H. Hersh and Colleen A. Morris

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30334

    4. Expressive language in children with Kabuki syndrome (pages 256–259)

      Truus Defloor, John van Borsel, Constance T.R.M. Schrander-Stumpel and Leopold M.G. Curfs

      Article first published online: 2 DEC 2004 | DOI: 10.1002/ajmg.a.30333

    5. Autoimmune disorders in Kabuki syndrome (pages 260–262)

      Jeffrey E. Ming, Karen L. Russell, Donna M. McDonald-McGinn and Elaine H. Zackai

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30332

    6. Developmental outcome in Kabuki syndrome (pages 263–264)

      Keith K. Vaux, Kenneth L. Jones, Marilyn C. Jones, Susan Schelley and Louanne Hudgins

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30338

    7. Further delineation of Kabuki syndrome in 48 well-defined new individuals (pages 265–272)

      Linlea Armstrong, Azza Abd El Moneim, Kirk Aleck, David J. Aughton, Clarisse Baumann, Stephen R. Braddock, Gabriele Gillessen-Kaesbach, John M. Graham Jr, Theresa A. Grebe, Karen W. Gripp, Bryan D. Hall, Raoul Hennekam, Alasdair Hunter, Kim Keppler-Noreuil, Didier Lacombe, Angela E. Lin, Jeffrey E. Ming, Nancy Mizue Kokitsu-Nakata, Sarah M. Nikkel, Nicole Philip, Annick Raas-Rothschild, Annemarie Sommer, Alain Verloes, Claudia Walter, Dagmar Wieczorek, Marc S. Williams, Elaine Zackai and Judith E. Allanson

      Article first published online: 22 DEC 2004 | DOI: 10.1002/ajmg.a.30340

  3. Clinical Reports

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Rapid Publications
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Symptomatic Chiari I malformation in Kabuki syndrome (pages 273–275)

      Karen L. Ciprero, Jill Clayton-Smith, Dian Donnai, Robert A. Zimmerman, Elaine H. Zackai and Jeffrey E. Ming

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30387

  4. Rapid Publications

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Rapid Publications
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients (pages 276–277)

      John J.M. Engelen, Wim H. Loneus, Gerrie Vaes-Peeters and Constance T.R.M. Schrander-Stumpel

      Article first published online: 2 DEC 2004 | DOI: 10.1002/ajmg.a.30457

  5. Research Articles

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Rapid Publications
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene (pages 278–282)

      Christopher N. Vlangos, Meredith Wilson, Jan Blancato, Ann C.M. Smith and Sarah H. Elsea

      Article first published online: 7 DEC 2004 | DOI: 10.1002/ajmg.a.30461

    2. Ocular phenotypes of three genetic variants of Bardet–Biedl syndrome (pages 283–287)

      Elise Héon, Carol Westall, Rivka Carmi, Khalil Elbedour, Carole Panton, Leslie MacKeen, Edwin M. Stone and Val C. Sheffield

      Article first published online: 15 DEC 2004 | DOI: 10.1002/ajmg.a.30466

    3. Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families (pages 288–295)

      G.M.S. Mancini, C.E. Catsman-Berrevoets, I.F.M. de Coo, F.K. Aarsen, J.H.J. Kamphoven, J.G. Huijmans, M. Duran, M.S. van der Knaap, C. Jakobs and G.S. Salomons

      Article first published online: 22 DEC 2004 | DOI: 10.1002/ajmg.a.30473

    4. Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes (pages 296–301)

      Janbernd Kirschner, Ingrid Hausser, Yaqun Zou, Gudrun Schreiber, Hans-Jürgen Christen, Susan C. Brown, Ingrun Anton-Lamprecht, Francesco Muntoni, Folker Hanefeld and Carsten G. Bönnemann

      Article first published online: 15 DEC 2004 | DOI: 10.1002/ajmg.a.30443

    5. Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without clef palate cases (pages 302–304)

      Luca Scapoli, Jlenia Marchesini, Marcella Martinelli, Furio Pezzetti, Francesco Carinci, Annalisa Palmieri, Rosario Rullo, Fernando Gombos, Mauro Tognon and Paolo Carinci

      Article first published online: 15 DEC 2004 | DOI: 10.1002/ajmg.a.30469

    6. Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases (pages 310–313)

      Merete Bugge, Celia deLozier-Blanchet, Mads Bak, Carsten A. Brandt, Jens Michael Hertz, Jytte Bieber Nielsen, Laurance Duprez and Michael B. Petersen

      Article first published online: 16 DEC 2004 | DOI: 10.1002/ajmg.a.30474

  6. Clinical Reports

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Rapid Publications
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Autosomal recessive non-immune hydrops fetalis caused by systemic lymphangiectasia (pages 318–319)

      Peter Wieacker, Petra Muschke, Karl-Heinz Pollak and Roberto Müller

      Article first published online: 16 DEC 2004 | DOI: 10.1002/ajmg.a.30392

    2. Natural history of cardiac involvement in geleophysic dysplasia (pages 320–323)

      A. Scott, S. Yeung, D.F. Dickinson, G. Karbani and Y.J. Crow

      Article first published online: 7 DEC 2004 | DOI: 10.1002/ajmg.a.30450

    3. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome (pages 324–328)

      S.E. Boonen, D. Stahl, S. Kreiborg, T. Rosenberg, V. Kalscheuer, L.A. Larsen, N. Tommerup, K. Brøndum-Nielsen and Z. Tümer

      Article first published online: 7 DEC 2004 | DOI: 10.1002/ajmg.a.30422

  7. Research Letters

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Rapid Publications
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    1. Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes (pages 329–330)

      M.F. Bedeschi, L. Spaccini, T. Rizzuti, D.A. Coviello, P. Castorina, F. Natacci and F. Lalatta

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30398

    2. High prevalence of isolated pericardial effusion in Down syndrome (pages 331–332)

      D. Concolino, A. Pascuzzi, E. Pietragalla, R. Lia, S. Canepa and P. Strisciuglio

      Article first published online: 2 NOV 2004 | DOI: 10.1002/ajmg.a.30399

    3. The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy (pages 333–334)

      Amy E. Roberts, Britta Hult, Heidi L. Rehm, Heidi L. Rehm, Barbara McDonough, Scott Barr, Christine E. Seidman, J.G. Seidman and Raju S. Kucherlapati

      Article first published online: 2 DEC 2004 | DOI: 10.1002/ajmg.a.30405

    4. Unique survival in chrondrodysplasia-hermaphrodism syndrome (pages 335–337)

      Christel Thauvin-Robinet, Francine Mugneret, Patrick Callier, Mondher Chouchane, Emmanuel Garron, Eric Manceau, Nicole Laurent, Christine Durand, Annie Nivelon-Chevallier, Emmanuel Sapin, Frédéric Huet and Laurence Faivre

      Article first published online: 2 DEC 2004 | DOI: 10.1002/ajmg.a.30417

    5. Iris heterochromia: A variable feature in Verloes–Koulischer-oral-acral syndrome (pages 338–339)

      Inge B. Mathijssen, Jean-Pierre Fryns, Koen Devriendt, Yves Sznajer and Maurice Van Eygen

      Article first published online: 2 DEC 2004 | DOI: 10.1002/ajmg.a.30427

  8. Correspondence

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

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