American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 May 2004

Volume 127A, Issue 1

Pages 1–109

  1. Invited Comments

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

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for down syndrome among Turkish women (pages 5–10)

      Koray Boduroğlu, Yasemin Alanay, Berrin Koldan and Ergül Tunçbilek

      Version of Record online: 29 MAR 2004 | DOI: 10.1002/ajmg.a.20432

    2. Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population (pages 11–16)

      Kiyoshi Kanno, Yoichi Suzuki, Atsushi Yamada, Yoko Aoki, Shigeo Kure and Yoichi Matsubara

      Version of Record online: 17 DEC 2003 | DOI: 10.1002/ajmg.a.20649

    3. Association between 7q31 markers and tourette syndrome (pages 17–20)

      Adriana Díaz-Anzaldúa, Ridha Joober, Jean-Baptiste Rivière, Yves Dion, Paul Lespérance, Sylvain Chouinard, Francois Richer and Guy Armand Rouleau

      Version of Record online: 17 DEC 2003 | DOI: 10.1002/ajmg.a.20631

    4. Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS) (pages 26–34)

      Karin Källén, Elisabeth Robert, Eduardo E. Castilla, Pierpaolo Mastroiacovo and Bengt Källén

      Version of Record online: 17 DEC 2003 | DOI: 10.1002/ajmg.a.20643

    5. Distal arthrogryposis type IIB: Unreported ophthalmic findings (pages 35–39)

      Jayashree Sahni, Stephen B. Kaye, Alan Fryer, Paul Hiscott and Roger C. Bucknall

      Version of Record online: 17 DEC 2003 | DOI: 10.1002/ajmg.a.20634

    6. Non-neurogenic sarcomas in four children and young adults with neurofibromatosis type 1 (pages 40–43)

      Cheryl M. Coffin, Jamie Cassity, David Viskochil, R. Lor Randall and Karen Albritton

      Version of Record online: 27 JAN 2004 | DOI: 10.1002/ajmg.a.20651

    7. Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33 (pages 44–49)

      Kari Casas, Yelena Bykhovskaya, Emebet Mengesha, Dai Wang, Huiying Yang, Kent Taylor, Aida Inbal and Nathan Fischel-Ghodsian

      Version of Record online: 27 JAN 2004 | DOI: 10.1002/ajmg.a.20652

    8. Myotonic dystrophy—no evidence for preferential transmission of the mutated allele: A prenatal analysis (pages 50–53)

      Eran Zunz, Dvorah Abeliovich, Gabrielle J. Halpern, Nurit Magal and Mordechai Shohat

      Version of Record online: 27 JAN 2004 | DOI: 10.1002/ajmg.a.20675

  3. Clinical Reports

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter [RIGHTWARDS ARROW] q22.1::q22.1 [RIGHTWARDS ARROW] pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome (pages 58–64)

      M. Meins, D. Böhm, A. Großmann, E. Herting, B. Fleckenstein, C. Fauth, M.R. Speicher, R. Schindler, B. Zoll, I. Bartels and Peter Burfeind

      Version of Record online: 26 NOV 2003 | DOI: 10.1002/ajmg.a.20644

    2. Proximal chromosome 8q deletion in a boy with femoral bifurcation and other multiple congenital anomalies (pages 65–68)

      Alexnder Asamoah, Martin Nwankwo, Savitri P. Kumar, Sudhakar G. Ezhuthachan and Daniel L. Van Dyke

      Version of Record online: 26 NOV 2003 | DOI: 10.1002/ajmg.a.20626

    3. A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings (pages 69–73)

      María A. Mori, Pablo Lapunzina, Alicia Delicado, Guillermo Núñez, José I. Rodríguez, María L. de Torres, Francisco Herrero, Eva Valverde and Isidora López-Pajares

      Version of Record online: 26 NOV 2003 | DOI: 10.1002/ajmg.a.20622

    4. Cutaneous T-cell lymphoma in a 21-year-old male with Wolf–Hirschhorn syndrome (pages 81–85)

      Beau Batton, Adoor Amanullah, Charles Main, David Fivenson and Samir Jamil

      Version of Record online: 17 DEC 2003 | DOI: 10.1002/ajmg.a.20608

    5. Patterson–Lowry rhizomelic dysplasia: Report of two new patients (pages 86–92)

      Piergiorgio Franceschini, D. Licata, A. Guala, G. Ingrosso, G. Di Cara and D. Franceschini

      Version of Record online: 17 DEC 2003 | DOI: 10.1002/ajmg.a.20638

    6. Solitary median maxillary central incisor syndrome: Clinical case with a novel mutation of sonic hedgehog (pages 93–95)

      Livia Garavelli, C. Zanacca, G. Caselli, G. Banchini, C. Dubourg, V. David, S. Odent, F. Gurrieri and G. Neri

      Version of Record online: 23 DEC 2003 | DOI: 10.1002/ajmg.a.20685

    7. Ablepharon-macrostomia syndrome in a 46-year-old woman (pages 96–98)

      Francesco Brancati, Rita Mingarelli, Anna Sarkozy and Bruno Dallapiccola

      Version of Record online: 27 JAN 2004 | DOI: 10.1002/ajmg.a.20658

  4. Research Letters

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. TGFB1 mutations in four new families with Camurati–Engelmann disease: Confirmation of independently arising LAP-domain-specific mutations (pages 104–107)

      Akira Kinoshita, Yasuyuki Fukumaki, Shuya Shirahama, Akira Miyahara, Gen Nishimura, Nobuhiko Haga, Atsushi Namba, Hitoshi Ueda, Hiromi Hayashi, Shiro Ikegawa, Joerg Seidel, Norio Niikawa and Koh-ichiro Yoshiura

      Version of Record online: 27 JAN 2004 | DOI: 10.1002/ajmg.a.20671

  5. Book Reviews

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Book review (page 108)

      David A. Stevenson

      Version of Record online: 17 DEC 2003 | DOI: 10.1002/ajmg.a.20629

  6. Correspondence

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Book Reviews
    7. Correspondence
    1. Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene (page 109)

      Margherita Silengo, Giovanni Battista Ferrero and Nobuaki Wakamatsu

      Version of Record online: 26 NOV 2003 | DOI: 10.1002/ajmg.a.20607

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