American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 10

15 May 2008

Volume 146A, Issue 10

Pages 1235–1368

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Correspondence
    1. The clinical spectrum of homozygous HOXA1 mutations (pages 1235–1240)

      Thomas M. Bosley, Ibrahim A. Alorainy, Mustafa A. Salih, Hesham M. Aldhalaan, Khaled K. Abu-Amero, Darren T. Oystreck, Max A. Tischfield, Elizabeth C. Engle and Robert P. Erickson

      Version of Record online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32262

    2. Two new cases of pure 1q terminal deletion presenting with brain malformations (pages 1241–1247)

      Yoko Hiraki, Nobuhiko Okamoto, Tomoko Ida, Yusei Nakata, Masahiro Kamada, Yonehiro Kanemura, Mami Yamasaki, Hiroko Fujita, Gen Nishimura, Mitsuhiro Kato, Naoki Harada and Naomichi Matsumoto

      Version of Record online: 2 APR 2008 | DOI: 10.1002/ajmg.a.32275

    3. Mitochondrial ND5 T12338C, tRNACys T5802C, and tRNAThr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees (pages 1248–1258)

      Bobei Chen, Dongmei Sun, Li Yang, Chuqin Zhang, Aifen Yang, Yi Zhu, Jianyue Zhao, Yingying Chen, Minqiang Guan, Xinjian Wang, Ronghua Li, Xiaowen Tang, Jindan Wang, Zhihua Tao, Jianxin Lu and Min-Xin Guan

      Version of Record online: 3 APR 2008 | DOI: 10.1002/ajmg.a.32285

    4. Omphalocele and gastroschisis and associated malformations (pages 1280–1285)

      Claude Stoll, Yves Alembik, Beatrice Dott and Marie-Paule Roth

      Version of Record online: 3 APR 2008 | DOI: 10.1002/ajmg.a.32297

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      Growth charts for patients affected with Morquio A disease (pages 1286–1295)

      Adriana M. Montaño, Shunji Tomatsu, Ana Brusius, Mary Smith and Tadao Orii

      Version of Record online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32281

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Correspondence
    1. Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria (pages 1299–1306)

      Anna M. Lehman, Deborah McFadden, Denise Pugash, Karan Sangha, William T. Gibson and Millan S. Patel

      Version of Record online: 8 APR 2008 | DOI: 10.1002/ajmg.a.32277

    2. Trisomy 20q caused by interstitial duplication 20q13.2: Clinical report and literature review (pages 1307–1311)

      Pierre Blanc, Laetitia Gouas, Christine Francannet, Michel Giollant, Philippe Vago and Carole Goumy

      Version of Record online: 2 APR 2008 | DOI: 10.1002/ajmg.a.32278

    3. Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus (pages 1314–1319)

      Nils Rahner, Gerald Höefler, Christoph Högenauer, Caroline Lackner, Verena Steinke, Marlies Sengteller, Waltraut Friedl, Stefan Aretz, Peter Propping, Elisabeth Mangold and Constanze Walldorf

      Version of Record online: 11 APR 2008 | DOI: 10.1002/ajmg.a.32210

    4. Severe Marfan syndrome due to FBN1 exon deletions (pages 1320–1324)

      Moira Blyth, Nicola Foulds, Claire Turner and David Bunyan

      Version of Record online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32229

    5. Partial Xp11.23–p11.4 duplication with random X inactivation: Clinical report and molecular cytogenetic characterization (pages 1325–1329)

      Sophie Monnot, Fabienne Giuliano, Christophe Massol, Catherine Fossoud, Mireille Cossée, Jean-Claude Lambert and Houda Karmous-Benailly

      Version of Record online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32238

    6. Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome (pages 1330–1334)

      Karen Buysse, Björn Menten, Ann Oostra, Sylvie Tavernier, Geert R. Mortier and Frank Speleman

      Version of Record online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32267

    7. Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion (pages 1335–1340)

      Rosa Queralt, Irene Madrigal, M. Angeles Vallecillos, Carme Morales, José-Luis Ballescá, Rafael Oliva, Anna Soler, Aurora Sánchez and Ester Margarit

      Version of Record online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32284

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Correspondence
    1. Tracheomalacia in siblings with otopalatodigital syndrome (pages 1347–1349)

      Jonathan N. Johnson, Tyler K. Hartman, Esther H. Krych, Edward G. Seferian and Yves Ouellette

      Version of Record online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32263

    2. Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation (pages 1350–1353)

      Liviu Feller, Neil H. Wood, Michelle D. Sluiter, Claudia Noffke, Erich J. Raubenheimer, Johan Lemmer and Elizabeth J. van Rensburg

      Version of Record online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32272

    3. 12q12 deletion: A new patient contributing to genotype–phenotype correlation (pages 1354–1357)

      Pinella Failla, Corrado Romano, Santina Reitano, Daniela Di Benedetto, Lucia Grillo, Marco Fichera and Lucia Castiglia

      Version of Record online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32280

  4. Research Reviews

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Correspondence
    1. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature (pages 1358–1367)

      Bradford Coffee, Morna Ikeda, Dejan B. Budimirovic, Lawrence N. Hjelm, Walter E. Kaufmann and Stephen T. Warren

      Version of Record online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32261

  5. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Correspondence
    1. Dominantly inherited lop ears (page 1368)

      D. Ross McLeod, Alexander K.C. Leung and Albert Y.F. Kong

      Version of Record online: 15 APR 2008 | DOI: 10.1002/ajmg.a.32237

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