American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 11

1 June 2008

Volume 146A, Issue 11

Pages 1369–1501

  1. Invited Comments

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Reviews
    8. Research Letters
  2. Research Articles

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Reviews
    8. Research Letters
    1. Intensive cardiac management in patients with trisomy 13 or trisomy 18 (pages 1372–1380)

      Yukihiro Kaneko, Jotaro Kobayashi, Yusuke Yamamoto, Hitoshi Yoda, Yuki Kanetaka, Yayohi Nakajima, Daiichi Endo, Keiji Tsuchiya, Hajime Sato and Tadashi Kawakami

      Article first published online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32311

    2. Live birth prevalence of Down syndrome in Tottori, Japan, 1980–1999 (pages 1381–1386)

      Ariko Takeuchi, Hiroaki Ehara, Kyoichi Ohtani, Yoshihiro Maegaki, Yukiko Nanba, Ikuo Nagata, Mitsuo Toyoshima, Akiko Kondo, Shoji Nakai, Kenzo Takeshita and Kousaku Ohno

      Article first published online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32279

  3. Research Letters

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Reviews
    8. Research Letters
  4. Research Articles

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Reviews
    8. Research Letters
    1. Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome (pages 1389–1394)

      M. Vittoria Spampinato, Jonathan Kraas, Bernard L. Maria, Zeke J. Walton and Zoran Rumboldt

      Article first published online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32282

    2. Low-level mosaicism of trisomy 14: Phenotypic and molecular characterization (pages 1395–1405)

      Marwan Shinawi, Lina Shao, Linda Jo Bone Jeng, Chad A. Shaw, Ankita Patel, Carlos Bacino, Vernon R. Sutton, John Belmont and Sau Wai Cheung

      Article first published online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32287

    3. A genome wide linkage scan for cleft lip and palate and dental anomalies (pages 1406–1413)

      Alexandre R. Vieira, Toby G. McHenry, Sandra Daack-Hirsch, Jeffrey C. Murray and Mary L. Marazita

      Article first published online: 28 APR 2008 | DOI: 10.1002/ajmg.a.32295

    4. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype (pages 1430–1438)

      Mariëlle E.M. Swinkels, Annet Simons, Dominique F. Smeets, Lisenka E. Vissers, Joris A. Veltman, Rolph Pfundt, Bert B.A. de Vries, Brigitte H.W. Faas, Connie T.R.M. Schrander-Stumpel, Emma McCann, Elizabeth Sweeney, Paul May, Jos M. Draaisma, Nine V. Knoers, Ad Geurts van Kessel and Conny M.A. van Ravenswaaij-Arts

      Article first published online: 1 MAY 2008 | DOI: 10.1002/ajmg.a.32310

  5. Clinical Reports

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Reviews
    8. Research Letters
    1. Congenital disseminated neurofibromatosis type 1: A clinical and molecular case report (pages 1444–1452)

      H. Stewart, C. Bowker, S. Edees, S. Smalley, M. Crocker, D. Mechan, N. Forrester, G. Spurlock and M. Upadhyaya

      Article first published online: 25 APR 2008 | DOI: 10.1002/ajmg.a.32305

    2. Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism (pages 1458–1461)

      Reiko Shimizu, Norimasa Mitsui, Yasuhiro Mori, Shogen Cho, Shunji Yamamori, Makiko Osawa and Hirofumi Ohashi

      Article first published online: 30 APR 2008 | DOI: 10.1002/ajmg.a.32319

    3. Craniosynostosis in a patient with a de novo 15q15-q22 deletion (pages 1462–1465)

      Yoko Hiraki, Miyuki Moriuchi, Nobuhiko Okamoto, Nobutsune Ishikawa, Yosuke Sugimoto, Kuniki Eguchi, Haruya Sakai, Hirotomo Saitsu, Takeshi Mizuguchi, Naoki Harada and Naomichi Matsumoto

      Article first published online: 30 APR 2008 | DOI: 10.1002/ajmg.a.32339

    4. Discrepant DNA analysis in three patients with inherited arrhythmia: Molecular genetic test results deserve a second glance (pages 1466–1469)

      Christina R. Honeywell, Michael H. Gollob, Julie Rutberg, Robert M. Gow and Michael T. Geraghty

      Article first published online: 30 APR 2008 | DOI: 10.1002/ajmg.a.32336

    5. Caudal dysgenesis, sirenomelia, and situs inversus totalis: A primitive defect in blastogenesis (pages 1470–1476)

      Anne-Laure Rougemont, Dorothée Bouron-Dal Soglio, Valérie Désilets, Mubina Jovanovic, Gilles Perreault, Luc Laurier Oligny and Jean-Christophe Fournet

      Article first published online: 9 MAY 2008 | DOI: 10.1002/ajmg.a.32081

  6. Research Reviews

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Reviews
    8. Research Letters
  7. Research Letters

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Reviews
    8. Research Letters
    1. Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease (pages 1486–1489)

      Guido Fitze, Inke R. König, Ekkehart Paditz, Alexandre Serra, Marianne Schläfke, Dietmar Roesner, Andreas Ziegler and Hans K. Schackert

      Article first published online: 25 APR 2008 | DOI: 10.1002/ajmg.a.32300

    2. An unusual presentation of trisomy 13 (pages 1490–1492)

      Amy Collinsworth and Yves Lacassie

      Article first published online: 25 APR 2008 | DOI: 10.1002/ajmg.a.32306

    3. A selective clinical cytogenetic study in prenatal and pediatric pathology: A comparison with unselected studies (pages 1497–1501)

      João M. Pina-Neto, Daniela Ortolan, Vanessa S. Bitar, Luis F. Mazzucatto, Heloísa H.L. Fernandez and Luiz C. Peres

      Article first published online: 30 APR 2008 | DOI: 10.1002/ajmg.a.32329

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