American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 December 2005

Volume 139A, Issue 2

Pages 57–171

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. Turner syndrome: Four challenges across the lifespan (pages 57–66)

      Erica J. Sutton, Aideen McInerney-Leo, Carolyn A. Bondy, Sarah E. Gollust, Donnice King and Barbara Biesecker

      Article first published online: 26 OCT 2005 | DOI: 10.1002/ajmg.a.30911

    2. Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis? (pages 67–77)

      Carrie L. Heike, Michael L. Cunningham, Robert D. Steiner, Deborah Wenkert, Robin L. Hornung, Joseph S. Gruss, Francis H. Gannon, William H. McAlister, Steven Mumm and Michael P. Whyte

      Article first published online: 12 OCT 2005 | DOI: 10.1002/ajmg.a.30915

    3. Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements (pages 106–113)

      Trilochan Sahoo, Chad A. Shaw, Andrew S. Young, Nathan L. Whitehouse, Richard J. Schroer, Roger E. Stevenson and Arthur L. Beaudet

      Article first published online: 11 NOV 2005 | DOI: 10.1002/ajmg.a.31000

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype (pages 114–117)

      Lucie Guyant-Maréchal, Aad Verrips, Carole Girard, Ron A. Wevers, Fokje Zijlstra, Erik Sistermans, Pierre Vera, Dominique Campion and Didier Hannequin

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.30797

    2. A family with Duane anomaly and distal limb abnormalities: A further family with the arthrogryposis-ophthalmoplegia syndrome (pages 123–126)

      Emma McCann, Alan E. Fryer, William Newman, Richard E. Appleton and Jürgen Kohlhase

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.30962

    3. Myhre syndrome in a female with previously undescribed symptoms: Further delineation of the phenotype (pages 127–130)

      M.A.M. van Steensel, M. Vreeburg, P.M. Steijlen and C. de Die-Smulders

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.30988

    4. Perlman syndrome: Clinical report and nine-year follow-up (pages 131–135)

      Maria Piccione, Massimiliano Cecconi, Mario Giuffrè, Margherita Lo Curto, Michela Malacarne, Ettore Piro, Andrea Riccio and Giovanni Corsello

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.30994

    5. Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype (pages 136–140)

      Vijay S. Tonk, Golder N. Wilson, Svetlana A. Yatsenko, Pawel Stankiewicz, James R. Lupski, Robert C. Schutt, J.K. Northup and Gopalrao V.N. Velagaleti

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.30958

    6. Ebstein anomaly and duplication of the distal arm of chromosome 15: Report of two patients (pages 141–145)

      Michelle S. Miller, P. Nagesh Rao, Rebecca N. Dudovitz and Rena E. Falk

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.30921

    7. A paternally derived inverted duplication of distal 14q with a terminal 14q deletion (pages 146–150)

      Chih-Ping Chen, Schu-Rern Chern, Shuan-Pei Lin, Chyi-Chyang Lin, Yueh-Chun Li, Tzu-Hao Wang, Chen-Chi Lee, Chen-Wen Pan, Lie-Jiau Hsieh and Wayseen Wang

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.30997

    8. Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: Unusual manifestations of Menkes disease (pages 151–155)

      Dorothy K. Grange, Stephen G. Kaler, Gary M. Albers, James A. Petterchak, Connie M. Thorpe and Daphne E. deMello

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.31001

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. Iridic and retinal coloboma associated with prenatal methimazole exposure (pages 156–158)

      Michihiko Aramaki, Isamu Hokuto, Tadashi Matsumoto, Hitoshi Ishimoto, Makoto Inoue, Tokuhiro Kimura, Yo-ichi Oikawa, Kazushige Ikeda, Yasunori Yoshimura, Takao Takahashi and Kenjiro Kosaki

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.30917

    2. Report of a third family with Oliver syndrome (pages 159–161)

      Carmelo Damiano Salpietro, Silvana Briuglia, Graziella Bertuccio, Luciana Rigoli, Rita Mingarelli and Bruno Dallapiccola

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.30999

    3. Co-existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome-like symptoms (pages 162–164)

      Kae Munakata, Miki Bundo, Tadafumi Kato, Hiroaki Ono, Nobuo Sakura, Minoru Oosaki, Chiaki Waki and Masashi Tanaka

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.31003

    4. Wilms tumor in an 11-year-old with hemihyperplasia (pages 165–166)

      Amanda Carré, Christopher N. Frantz, Rosanna Weksberg, Linda Nicholson, Lynn Ciarlo, Elaine H. Zackai and Karen W. Gripp

      Article first published online: 8 NOV 2005 | DOI: 10.1002/ajmg.a.31004

  4. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence

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