American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 April 2007

Volume 143A, Issue 7

Pages 635–769

  1. Invited Comments

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

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

    1. Top of page
    2. Invited Comments
    3. Research Reviews
    4. Research Articles
    5. New Syndrome
    6. Research Articles
    7. Invited Comments
    8. Clinical Reports
    9. Research Letters
    1. Novel risk factor in gastroschisis: Change of paternity (pages 653–659)

      Christina D. Chambers, Brian H. Chen, Kristin Kalla, Laura Jernigan and Kenneth Lyons Jones

      Version of Record online: 12 DEC 2006 | DOI: 10.1002/ajmg.a.31577

    2. Gastroschisis and associated defects: An international study (pages 660–671)

      Pierpaolo Mastroiacovo, Alessandra Lisi, Eduardo E. Castilla, María-Luisa Martínez-Frías, Eva Bermejo, Lisa Marengo, Jim Kucik, Csaba Siffel, Jane Halliday, Miriam Gatt, Göran Annerèn, Fabrizio Bianchi, M. Aurora Canessa, Ron Danderfer, Hermien de Walle, John Harris, Zhu Li, R. Brian Lowry, Robert McDonell, Paul Merlob, Julia Metneki, Osvaldo Mutchinick, Elisabeth Robert-Gnansia, Gioacchino Scarano, Antonin Sipek, Simone Pötzsch, Elena Szabova and Lyubov Yevtushok

      Version of Record online: 13 MAR 2007 | DOI: 10.1002/ajmg.a.31607

  4. New Syndrome

    1. Top of page
    2. Invited Comments
    3. Research Reviews
    4. Research Articles
    5. New Syndrome
    6. Research Articles
    7. Invited Comments
    8. Clinical Reports
    9. Research Letters
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      Apparently novel genetic syndrome of pachygyria, mental retardation, seizure, and arachnoid cysts (pages 672–677)

      Aslan Guzel, Mehmet Tatli, Kaya Bilguvar, Michael L. DiLuna, Betul Bakkaloglu, Ali K. Ozturk, Fatih Bayrakli and Murat Gunel

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/ajmg.a.31640

  5. Research Articles

    1. Top of page
    2. Invited Comments
    3. Research Reviews
    4. Research Articles
    5. New Syndrome
    6. Research Articles
    7. Invited Comments
    8. Clinical Reports
    9. Research Letters
    1. Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations (pages 678–686)

      Marianne L. Seto, Anne V. Hing, Jocelyn Chang, Ming Hu, Kathleen A. Kapp-Simon, Pravin K. Patel, Barbara K. Burton, Alex A. Kane, Matthew D. Smyth, Richard Hopper, Richard G. Ellenbogen, Kevin Stevenson, Matthew L. Speltz and Michael L. Cunningham

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/ajmg.a.31630

    2. Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene (pages 687–693)

      Shozo Honda, Shin Hayashi, Mitsuhiro Kato, Yo Niida, Kiyoshi Hayasaka, Torayuki Okuyama, Issei Imoto, Shuki Mizutani and Johji Inazawa

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/ajmg.a.31638

    3. FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly (pages 694–698)

      Akira Nishimura, Haruya Sakai, Shiro Ikegawa, Hiroshi Kitoh, Nobuyuki Haga, Satoshi Ishikiriyama, Toshiro Nagai, Fumio Takada, Takako Ohata, Fumihiko Tanaka, Hotaka Kamasaki, Hirotomo Saitsu, Takeshi Mizuguchi and Naomichi Matsumoto

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/ajmg.a.31639

    4. Over-expression of BMP4 and BMP5 in a child with axial skeletal malformations and heterotopic ossification: A new syndrome (pages 699–706)

      George J. Feldman, Paul C. Billings, Rajesh V. Patel, Robert J. Caron, Catherine Guenther, David M. Kingsley, Frederick S. Kaplan and Eileen M. Shore

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/ajmg.a.31649

    5. Access to health insurance: Experiences and attitudes of those with genetic versus non-genetic medical conditions (pages 707–717)

      Nancy E. Kass, Amy M. Medley, Marvin R. Natowicz, Sara Chandros Hull, Ruth R. Faden, Laura Plantinga and Lawrence O. Gostin

      Version of Record online: 8 FEB 2007 | DOI: 10.1002/ajmg.a.31576

  6. Invited Comments

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

    1. Top of page
    2. Invited Comments
    3. Research Reviews
    4. Research Articles
    5. New Syndrome
    6. Research Articles
    7. Invited Comments
    8. Clinical Reports
    9. Research Letters
    1. An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome (pages 721–726)

      Toru Udaka, Nobuhiko Okamoto, Michihiko Aramaki, Chiharu Torii, Rika Kosaki, Noboru Hosokai, Toshiyuki Hayakawa, Naoyuki Takahata, Takao Takahashi and Kenjiro Kosaki

      Version of Record online: 2 MAR 2007 | DOI: 10.1002/ajmg.a.31441

    2. Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation (pages 727–733)

      P. Mabboux, S. Brisset, A. Aboura, D. Pineau, V. Koubi, S. Joannidis, P. Labrune and G. Tachdjian

      Version of Record online: 1 MAR 2007 | DOI: 10.1002/ajmg.a.31633

    3. Malignant proliferating pilar tumors arising in KID syndrome: A report of two patients (pages 734–741)

      Gurston G. Nyquist, Christina Mumm, Renee Grau, A. Neil Crowson, Daniel L. Shurman, Paul Benedetto, Pamela Allen, Kelli Lovelace, David W. Smith, Ilona Frieden, C. Patrick Hybarger and Gabriele Richard

      Version of Record online: 1 MAR 2007 | DOI: 10.1002/ajmg.a.31635

    4. Epstein–Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome (pages 742–745)

      Nariaki Toita, Norikazu Hatano, Satoru Ono, Masafumi Yamada, Ryoji Kobayashi, Ichiro Kobayashi, Nobuaki Kawamura, Motohiko Okano, Akira Satoh, Atsuko Nakagawa, Koichi Ohshima, Masanobu Shindoh, Tsuyoshi Takami, Kunihiko Kobayashi and Tadashi Ariga

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/ajmg.a.31644

    5. Pulmonary disease is a component of distal arthrogryposis type 5 (pages 752–756)

      Marc S. Williams, C. Gregory Elliott and Michael J. Bamshad

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/ajmg.a.31648

  8. Research Letters

    1. Top of page
    2. Invited Comments
    3. Research Reviews
    4. Research Articles
    5. New Syndrome
    6. Research Articles
    7. Invited Comments
    8. Clinical Reports
    9. Research Letters
    1. Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome (pages 763–767)

      Yolande van Bever, Wendy Balemans, Els L.I.M. Duval, Ann Jespers, François Eyskens, Wim van Hul and Winnie Courtens

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/ajmg.a.31641

    2. Monozygotic twins of Smith–Magenis syndrome (pages 768–769)

      Rika Kosaki, Torayuki Okuyama, Toju Tanaka, Ohsuke Migita and Kenjiro Kosaki

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/ajmg.a.31647

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