American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 October 2005

Volume 138A, Issue 2

Pages 81–195

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Historical Reviews
    6. Book Reviews
    7. Corrigenda
    1. Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program (pages 81–88)

      Barbara R. Pober, Angela Lin, Meaghan Russell, Kate G. Ackerman, Sharmila Chakravorty, Bernarda Strauss, Marie Noel Westgate, Jay Wilson, Patricia K. Donahoe and Lewis B. Holmes

      Version of Record online: 10 AUG 2005 | DOI: 10.1002/ajmg.a.30904

    2. A family with X-linked anophthalmia: Exclusion of SOX3 as a candidate gene (pages 89–94)

      Anne Slavotinek, Stephen S. Lee and Steven P. Hamilton

      Version of Record online: 19 AUG 2005 | DOI: 10.1002/ajmg.a.30872

    3. SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies (pages 95–98)

      Stephanie A. Hagstrom, Gayle J.T. Pauer, Janet Reid, Ellen Simpson, Sue Crowe, Irene H. Maumenee and Elias I. Traboulsi

      Version of Record online: 6 SEP 2005 | DOI: 10.1002/ajmg.a.30803

    4. Screening for new MTHFR polymorphisms and NTD risk (pages 99–106)

      Valerie B. O'Leary, James L. Mills, Anne Parle-McDermott, Faith Pangilinan, Anne M. Molloy, Christopher Cox, Andrea Weiler, Mary Conley, Peadar N. Kirke, John M. Scott and Lawrence C. Brody

      Version of Record online: 6 SEP 2005 | DOI: 10.1002/ajmg.a.30846

    5. Can parents adjust to the idea that their child is at risk for a sudden death?: Psychological impact of risk for long QT syndrome (pages 107–112)

      Karin S.W.H. Hendriks, F.J.M. Grosfeld, J.P. van Tintelen, I.M. van Langen, A.A.M. Wilde, J. van den Bout and H.F.J. ten Kroode

      Version of Record online: 7 SEP 2005 | DOI: 10.1002/ajmg.a.30861

    6. Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis (pages 113–117)

      Adriana Handra-Luca, Christel Condroyer, Céline de Moncuit, Maryline Tepper, Jean-François Fléjou, Gilles Thomas and Sylviane Olschwang

      Version of Record online: 8 SEP 2005 | DOI: 10.1002/ajmg.a.30897

    7. Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect (pages 118–126)

      Valérie Delague, Eliane Chouery, Sandra Corbani, Ismat Ghanem, Suhail Aamar, Judith Fischer, Ephrat Levy-Lahad, J. Andoni Urtizberea and André Mégarbané

      Version of Record online: 8 SEP 2005 | DOI: 10.1002/ajmg.a.30906

    8. Segmental and full paternal isodisomy for chromosome 14 in three patients: Narrowing the critical region and implication for the clinical features (pages 127–132)

      Masayo Kagami, Gen Nishimura, Torayuki Okuyama, Michiko Hayashidani, Toshio Takeuchi, Shinya Tanaka, Fumitoshi Ishino, Kenji Kurosawa and Tsutomu Ogata

      Version of Record online: 8 SEP 2005 | DOI: 10.1002/ajmg.a.30941

    9. Cosegregation of the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss (pages 133–140)

      Huijun Yuan, Yaping Qian, Yanjun Xu, Juyang Cao, Linna Bai, Weidong Shen, Fei Ji, Xin Zhang, Dongyang Kang, Jun Qin Mo, John H. Greinwald, Dongyi Han, Suoqiang Zhai, Wie-Yen Young and Min-Xin Guan

      Version of Record online: 8 SEP 2005 | DOI: 10.1002/ajmg.a.30952

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Historical Reviews
    6. Book Reviews
    7. Corrigenda
    1. Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds (pages 141–145)

      Andrea L. Storm, Jason M. Johnson, Edward Lammer, Glenn E. Green and Christopher Cunniff

      Version of Record online: 19 AUG 2005 | DOI: 10.1002/ajmg.a.30883

    2. Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: Report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63 (pages 146–149)

      Anne M. Slavotinek, June Tanaka, Alison Winder, Karin Vargervik, Anita Haggstrom and Michael Bamshad

      Version of Record online: 19 AUG 2005 | DOI: 10.1002/ajmg.a.30900

    3. Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations (pages 150–154)

      Johanne M.D. Hahnemann, Marta Nir, M. Friberg, Ulla Engel and Merete Bugge

      Version of Record online: 19 AUG 2005 | DOI: 10.1002/ajmg.a.30908

    4. DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother (pages 155–159)

      Ralph J. DeBerardinis, Livija Medne, Nancy B. Spinner and Elaine H. Zackai

      Version of Record online: 19 AUG 2005 | DOI: 10.1002/ajmg.a.30913

    5. Detection of an unexpected subtelomeric 15q26.2 [RIGHTWARDS ARROW] qter deletion in a little girl: Clinical and cytogenetic studies (pages 160–165)

      L. Pinson, A. Perrin, C. Plouzennec, P. Parent, C. Metz, M. Collet, M.J. Le Bris, N. Douet-Guilbert, F. Morel and M. De Braekeleer

      Version of Record online: 19 AUG 2005 | DOI: 10.1002/ajmg.a.30939

    6. Triploid mosaicism in a 45,X/69,XXY infant (pages 171–174)

      Denise I. Quigley, Marie T. McDonald, Vidya Krishnamuthy, Priya S. Kishnani, Mary M. Lee, Andrea M. Haqq and Barbara K. Goodman

      Version of Record online: 8 SEP 2005 | DOI: 10.1002/ajmg.a.30943

    7. Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications (pages 175–180)

      Svetlana A. Yatsenko, Diane Treadwell-Deering, Kevin Krull, Richard Alan Lewis, Daniel Glaze, Pawel Stankiewicz, James R. Lupski and Lorraine Potocki

      Version of Record online: 8 SEP 2005 | DOI: 10.1002/ajmg.a.30948

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Historical Reviews
    6. Book Reviews
    7. Corrigenda
    1. Mosaicism of proximal 15q duplication/deletion resulting in Prader–Willi syndrome with normal methylation (pages 181–184)

      Luke Boyd, Michael G. Brown, Stephen Kelson, Helen Lawce, Sarah Shuttleworth, Nancy Unsworth and R. Ellen Magenis

      Version of Record online: 12 AUG 2005 | DOI: 10.1002/ajmg.a.30819

    2. Germline mosaicism of a novel UBE3A mutation in Angelman syndrome (pages 187–189)

      Kana Hosoki, Kyoko Takano, Akira Sudo, Soichiro Tanaka and Shinji Saitoh

      Version of Record online: 12 AUG 2005 | DOI: 10.1002/ajmg.a.30926

  4. Historical Reviews

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Historical Reviews
    6. Book Reviews
    7. Corrigenda
    1. The Cyclopes in Odysseus' Apologos (pages 190–192)

      Euterpe Bazopoulou-Kyrkanidou

      Version of Record online: 6 SEP 2005 | DOI: 10.1002/ajmg.a.30829

  5. Book Reviews

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Historical Reviews
    6. Book Reviews
    7. Corrigenda
    1. Book review (pages 193–194)

      F. Clarke Fraser

      Version of Record online: 29 JUL 2005 | DOI: 10.1002/ajmg.a.30816

  6. Corrigenda

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Historical Reviews
    6. Book Reviews
    7. Corrigenda
    1. You have free access to this content
      A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9 (Am J Med Genet 136A: 31–37, 2005) (page 195)

      Barbara Kloeckener-Gruissem, David R. Betts, Andreas Zankl, Wolfgang Berger and Tayfun Güngör

      Version of Record online: 19 SEP 2005 | DOI: 10.1002/ajmg.a.30930

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