American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 July 2007

Volume 143A, Issue 13

Pages 1397–1530

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
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    2. Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: A clinical report series (pages 1408–1413)

      Gail A. Spiridigliozzi, James H. Heller, Blythe G. Crissman, Jennifer A. Sullivan-Saarela, Rebecca Eells, Deborah Dawson, Jennifer Li and Priya S. Kishnani

      Article first published online: 31 MAY 2007 | DOI: 10.1002/ajmg.a.31790

    3. CDG-Id in two siblings with partially different phenotypes (pages 1414–1420)

      Christian Kranz, Liangwu Sun, Erik A. Eklund, Donna Krasnewich, Janet R. Casey and Hudson H. Freeze

      Article first published online: 5 JUN 2007 | DOI: 10.1002/ajmg.a.31796

    4. Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome (pages 1421–1430)

      Brendan O'Neill, Vinaya Simha, Vani Kotha and Abhimanyu Garg

      Article first published online: 23 MAY 2007 | DOI: 10.1002/ajmg.a.31840

    5. Pelizaeus-Merzbacher syndrome: Neurocognitive function in a family with carrier manifestations (pages 1442–1447)

      Michael Marble, Kytja S. Voeller, Melanie M. May, Roger E. Stevenson, Charles E. Schwartz and Richard J. Simensen

      Article first published online: 13 JUN 2007 | DOI: 10.1002/ajmg.a.31804

    6. Partial tandem duplication of GRIA3 in a male with mental retardation (pages 1448–1455)

      Tomohiro Chiyonobu, Shin Hayashi, Kazuhiro Kobayashi, Masafumi Morimoto, Yuri Miyanomae, Akira Nishimura, Akemi Nishimoto, Chiyomi Ito, Issei Imoto, Tohru Sugimoto, Zhengping Jia, Johji Inazawa and Tatsushi Toda

      Article first published online: 13 JUN 2007 | DOI: 10.1002/ajmg.a.31798

    7. Final adult height in children with Prader–Willi syndrome with and without human growth hormone treatment (pages 1456–1461)

      Moris A. Angulo, Mariano Castro-Magana, Michele Lamerson, Raul Arguello, Siham Accacha and Asjad Khan

      Article first published online: 13 JUN 2007 | DOI: 10.1002/ajmg.a.31824

    8. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome (pages 1472–1480)

      Karen W. Gripp, Angela E. Lin, Linda Nicholson, William Allen, Andrea Cramer, Kenneth L. Jones, Wendy Kutz, Dawn Peck, Michael A. Rebolledo, Patricia G. Wheeler, William Wilson, Mohamad M. Al-Rahawan, Deborah L. Stabley and Katia Sol-Church

      Article first published online: 5 JUN 2007 | DOI: 10.1002/ajmg.a.31815

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome (pages 1481–1488)

      Mohamad M. Al-Rahawan, Deborah J. Chute, Katia Sol-Church, Karen W. Gripp, Deborah L. Stabley, Nancy L. McDaniel, William G. Wilson and Peter E. Waldron

      Article first published online: 13 JUN 2007 | DOI: 10.1002/ajmg.a.31819

    2. Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia (pages 1494–1501)

      Kunihiro Yoshida, Tomomi Okano, Kenichi Hoshi, Hiroyuki Yahikozawa, Kayo Suzuki, Haruhiko Banno, Takuya Tamura, Gen Sobue and Shu-ichi Ikeda

      Article first published online: 5 JUN 2007 | DOI: 10.1002/ajmg.a.31795

    3. Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22 (pages 1502–1509)

      Ji Kwon Park, Jae Ik Lee, Hyun Cheol Jo, Jeong Kyu Shin, Won Jun Choi, Soon Ae Lee, Jong Hak Lee and Won Young Paik

      Article first published online: 13 JUN 2007 | DOI: 10.1002/ajmg.a.31782

    4. Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene (pages 1510–1513)

      Karen Helene Ørstavik, Gun Peggy S. Knudsen, Hilde Nordgarden, Eli Ormerod, Petter Strømme, Lazarous P. Lazarou, Lyndon G. Rosser, Trine Prescott and Gunnar Houge

      Article first published online: 13 JUN 2007 | DOI: 10.1002/ajmg.a.31797

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene (pages 1514–1518)

      Boris Keren, Oscar T. Suzuki, Marion Gérard-Blanluet, Dominique Brémond-Gignac, Monique Elmaleh, Luigi Titomanlio, Anne-Lise Delezoide, Maria Rita Passos-Bueno and Alain Verloes

      Article first published online: 1 JUN 2007 | DOI: 10.1002/ajmg.a.31784

    2. Upper gastrointestinal malformations in Coffin-Siris syndrome (pages 1519–1521)

      Richard Kellermayer, Seiji Kitagawa, Carol A. Redel, Darrell L. Cass, John W. Belmont and William Klish

      Article first published online: 23 MAY 2007 | DOI: 10.1002/ajmg.a.31865

  4. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat–Wilson syndrome (pages 1528–1530)

      Sibylle Strenge, Wolfram Heinritz, Christiane Zweier, Anita Rauch, Udo Rolle, Andreas Merkenschlager and Ursula G. Froster

      Article first published online: 13 JUN 2007 | DOI: 10.1002/ajmg.a.31801

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