American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 November 2004

Volume 131A, Issue 1

Pages 1–110

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A (pages 1–10)

      Yong-hui Jiang, Trilochan Sahoo, Ron C. Michaelis, Dani Bercovich, Jan Bressler, Catherine D. Kashork, Qian Liu, Lisa G. Shaffer, Richard J. Schroer, David W. Stockton, Richard S. Spielman, Roger E. Stevenson and Arthur L. Beaudet

      Version of Record online: 8 SEP 2004 | DOI: 10.1002/ajmg.a.30297

    2. Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor (pages 11–17)

      Mohammed A. Junaid, Dagmar Kowal, Madhabi Barua, Premila S. Pullarkat, Susan Sklower Brooks and Raju K. Pullarkat

      Version of Record online: 22 SEP 2004 | DOI: 10.1002/ajmg.a.30349

    3. The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC) (pages 18–28)

      Fransiska Malfait, Peter De Coster, Ingrid Hausser, Anthonie J. van Essen, Peter Franck, Alain Colige, Betty Nusgens, Luc Martens and Anne De Paepe

      Version of Record online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30299

    4. Women's satisfaction with genetic counseling for hereditary breast-ovarian cancer: Psychological aspects (pages 36–41)

      Kenneth P. Tercyak, Tiffani A. DeMarco, Bryn D. Mars and Beth N. Peshkin

      Version of Record online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30317

    5. Feeling at risk: How women interpret their familial breast cancer risk (pages 42–49)

      Sandra van Dijk, Wilma Otten, Christi J. van Asperen, Danielle R.M. Timmermans, Aad Tibben, Moniek W. Zoeteweij, Sylvia Silberg, Martijn H. Breuning and Job Kievit

      Version of Record online: 20 SEP 2004 | DOI: 10.1002/ajmg.a.30322

    6. Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome (pages 50–58)

      Qingxue Wang, Masamichi Ito, Kathleen Adams, B U.K. Li, Thomas Klopstock, Audrey Maslim, Tomoyasu Higashimoto, Juergen Herzog and Richard G. Boles

      Version of Record online: 14 SEP 2004 | DOI: 10.1002/ajmg.a.30323

    7. Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1α subunit (pages 59–66)

      Jessie M. Cameron, Valeriy Levandovskiy, Neviana MacKay, Ingrid Tein and Brian H. Robinson

      Version of Record online: 21 SEP 2004 | DOI: 10.1002/ajmg.a.30287

    8. Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello–oculo–renal syndromes (pages 71–76)

      Satoko Kumada, Masaharu Hayashi, Kunimasa Arima, Hiroshi Nakayama, Kenji Sugai, Masayuki Sasaki, Kiyoko Kurata and Michio Nagata

      Version of Record online: 21 SEP 2004 | DOI: 10.1002/ajmg.a.30294

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. Septo-optic dysplasia with digital anomalies—a recurrent pattern syndrome (pages 82–85)

      Iain M. Harrison, Donal Brosnahan, Ethna Phelan, Ray J. Fitzgerald and William Reardon

      Version of Record online: 14 SEP 2004 | DOI: 10.1002/ajmg.a.30309

    2. Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21 (pages 86–90)

      C.Y. Gregory-Evans, H. Vieira, R. Dalton, G.G.W. Adams, A. Salt and K. Gregory-Evans

      Version of Record online: 21 SEP 2004 | DOI: 10.1002/ajmg.a.30312

    3. Mosaic ring 12p and total anomalous pulmonary venous return (pages 91–93)

      Darren L. Harris, Benjamin L. Siu, Marybeth Hummel, Kerry Harbert, Jamie Senft, Linda Sargent and Sharon L. Wenger

      Version of Record online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30315

    4. Girl with monosomy 1p36 and Angelman syndrome due to unbalanced der(1) transmission of a maternal translocation t(1;15)(p36.3;q13.1) (pages 94–98)

      Hiroyuki Torisu, Toshiyuki Yamamoto, Takehisa Fujiwaki, Mitsutaka Kadota, Mitsuo Oshimura, Kenji Kurosawa, Shinjiro Akaboshi and Akira Oka

      Version of Record online: 21 SEP 2004 | DOI: 10.1002/ajmg.a.30413

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. Lack of genetic dispositions to hyperhomocysteinemia in Alzheimer disease (pages 101–102)

      Michael Linnebank, Anja Linnebank, Monika Jeub, Thomas Klockgether, Ullrich Wüllner, Heike Kölsch, Reinhard Heun, Hans Georg Koch, Terttu Suormala and Brian Fowler

      Version of Record online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30295

    2. 46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia (pages 103–105)

      Alison Kent, Erroll Simpson, David Ellwood and Martin Silink

      Version of Record online: 7 SEP 2004 | DOI: 10.1002/ajmg.a.30298

  4. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. Mutation analysis of MECP2 and determination of the X-inactivation pattern in Hungarian Rett syndrome patients (page 106)

      Judit Kárteszi, Katalin Hollódy, Judit Bene, Éva Morava, Kinga Hadzsiev, Márta Czakó, Béla Melegh, Alexandra Tészás and György Kosztolányi

      Version of Record online: 21 JUL 2004 | DOI: 10.1002/ajmg.a.30218

    2. Proving pathogenicity: When evolution is not enough (pages 107–108)

      R. McFarland, R.W. Taylor, J.L. Elson, R.N. Lightowlers, D.M. Turnbull and N. Howell

      Version of Record online: 21 SEP 2004 | DOI: 10.1002/ajmg.a.30318

    3. In reply to: Proving pathogenicity—when evolution is not enough (pages 109–110)

      Fernando Scaglia, Hannes Vogel, Edith P. Hawkins, Georgirene D. Vladutiu, Min-Xin Guan, Ling-Ling Liu and Lee-Jun C. Wong

      Version of Record online: 14 SEP 2004 | DOI: 10.1002/ajmg.a.30319

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