American Journal of Medical Genetics Part A

Cover image for Vol. 152A Issue 10

October 2010

Volume 152A, Issue 10

Pages C1–C1, fm i–fm x, 2419–2682

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Research Articles
    7. Genetic Drift
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondences
    12. Correspondence
    1. You have free access to this content
  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Research Articles
    7. Genetic Drift
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondences
    12. Correspondence
    1. You have free access to this content
  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Research Articles
    7. Genetic Drift
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondences
    12. Correspondence
    1. You have free access to this content
    2. You have free access to this content
    3. You have free access to this content
  4. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Research Articles
    7. Genetic Drift
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondences
    12. Correspondence
    1. Shells and heart: Are human laterality and chirality of snails controlled by the same maternal genes? (pages 2419–2425)

      Marco Oliverio, Maria Cristina Digilio, Paolo Versacci, Bruno Dallapiccola and Bruno Marino

      Version of Record online: 9 SEP 2010 | DOI: 10.1002/ajmg.a.33655

  5. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Research Articles
    7. Genetic Drift
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondences
    12. Correspondence
    1. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction (pages 2437–2443)

      Dianna M. Milewicz, John R. Østergaard, Leena M. Ala-Kokko, Nadia Khan, Dorothy K. Grange, Roberto Mendoza-Londono, Timothy J. Bradley, Ann Haskins Olney, Lesley Adès, Joseph F. Maher, Dongchuan Guo, L. Maximilian Buja, Dong Kim, James C. Hyland and Ellen S. Regalado

      Version of Record online: 23 AUG 2010 | DOI: 10.1002/ajmg.a.33657

    2. Communication of biobanks' research results: What do (potential) participants want? (pages 2482–2492)

      Tineke M. Meulenkamp, Sjef K. Gevers, Jasper A. Bovenberg, Gerard H. Koppelman, Astrid van Hylckama Vlieg and Ellen M.A. Smets

      Version of Record online: 26 AUG 2010 | DOI: 10.1002/ajmg.a.33617

    3. Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH (pages 2493–2504)

      Sibel Kantarci, Kate G. Ackerman, Meaghan K. Russell, Mauro Longoni, Carrie Sougnez, Kristin M. Noonan, Eli Hatchwell, Xiaoyun Zhang, Rafael Pieretti Vanmarcke, Kwame Anyane-Yeboa, Paul Dickman, Jay Wilson, Patricia K. Donahoe and Barbara R. Pober

      Version of Record online: 26 AUG 2010 | DOI: 10.1002/ajmg.a.33618

    4. IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population (pages 2505–2511)

      Yongchu Pan, Junqing Ma, Weibin Zhang, Yifei Du, Yuming Niu, Meilin Wang, Zhengdong Zhang and Lin Wang

      Version of Record online: 26 AUG 2010 | DOI: 10.1002/ajmg.a.33624

    5. Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males (pages 2512–2520)

      Stephen C. Collins, Steven M. Bray, Joshua A. Suhl, David J. Cutler, Bradford Coffee, Michael E. Zwick and Stephen T. Warren

      Version of Record online: 26 AUG 2010 | DOI: 10.1002/ajmg.a.33626

    6. Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver–Russell syndrome (pages 2521–2528)

      Shin-Yu Lin, Chien-Nan Lee, Chia-Cheng Hung, Wen-Yu Tsai, Shuan-Pei Lin, Ni-Chung Li, Wu-Shiun Hsieh, Yi-Ching Tung, Dau-Ming Niu, Wen-Ming Hsu, Lang-Yao Chen, Mei-Ya Fang, Mei-Pin Tu, Pei-Wen Kuo, Chiou-Ya Lin, Yi-Ning Su and Hong-Nerng Ho

      Version of Record online: 9 SEP 2010 | DOI: 10.1002/ajmg.a.33629

    7. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features (pages 2543–2549)

      Sheila Unger, Ekkehart Lausch, Antonio Rossi, Andre Mégarbané, David Sillence, Melanie Alcausin, Antonio Aytes, Roberto Mendoza-Londono, Sheela Nampoothiri, Bushra Afroze, Bryan Hall, Ivan F.M. Lo, Stephen T.S. Lam, Julia Hoefele, Imma Rost, Emma Wakeling, Elisabeth Mangold, Komudi Godbole, Nithiwat Vatanavicharn, Luis M. Franco, Kate Chandler, Sophia Hollander, Tanja Velten, Kerstin Reicherter, Jürgen Spranger, Stephen Robertson, Luisa Bonafé, Bernhard Zabel and Andrea Superti-Furga

      Version of Record online: 9 SEP 2010 | DOI: 10.1002/ajmg.a.33641

    8. Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain (pages 2550–2555)

      Emmanuelle Plaisier, Zhiyong Chen, Florian Gekeler, Safa Benhassine, Karine Dahan, Béatrice Marro, Sonia Alamowitch, Michel Paques and Pierre Ronco

      Version of Record online: 3 SEP 2010 | DOI: 10.1002/ajmg.a.33659

  6. Genetic Drift

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Research Articles
    7. Genetic Drift
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondences
    12. Correspondence
    1. You have free access to this content
  7. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Research Articles
    7. Genetic Drift
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondences
    12. Correspondence
    1. Barber–Say syndrome in a father and daughter (pages 2563–2568)

      Nathalie Roche, Philippe Houtmeyers, Sandra Janssens and Philllip Blondeel

      Version of Record online: 26 AUG 2010 | DOI: 10.1002/ajmg.a.33622

    2. Oral and dental abnormalities in Barber–Say syndrome (pages 2569–2573)

      Fabiana Martins, Karem Lopez Ortega, Cybelle Hiraoka, Patricia Ricardo and Marina Magalhães

      Version of Record online: 9 SEP 2010 | DOI: 10.1002/ajmg.a.32898

    3. A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia (pages 2574–2577)

      Jacob Hogue, Suma Shankar, Hazel Perry, Reena Patel, Karin Vargervik and Anne Slavotinek

      Version of Record online: 23 AUG 2010 | DOI: 10.1002/ajmg.a.33596

    4. Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis (pages 2578–2587)

      Anjana D. Thottungal, Adrian K. Charles, Jan E. Dickinson and Carol Bower

      Version of Record online: 23 AUG 2010 | DOI: 10.1002/ajmg.a.33599

    5. Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype (pages 2588–2594)

      D. Concolino, G. Roversi, G.L. Muzzi, S. Sestito, E.A. Colombo, L. Volpi, L. Larizza and P. Strisciuglio

      Version of Record online: 23 AUG 2010 | DOI: 10.1002/ajmg.a.33600

    6. Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation (pages 2595–2598)

      Hamid Reza Razzaghian, Mehdi Hayat Shahi, Lars A. Forsberg, Teresita Diaz de Ståhl, Devin Absher, Niklas Dahl, Maxwell P. Westerman and Jan P. Dumanski

      Version of Record online: 23 AUG 2010 | DOI: 10.1002/ajmg.a.33604

    7. Craniosynostosis in pycnodysostosis: Broadening the spectrum of the cranial flat bone abnormalities (pages 2599–2603)

      Débora Bertola, Cassio Amaral, Chong Kim, Lilian Albano, Meire Aguena and Maria Rita Passos-Bueno

      Version of Record online: 2 SEP 2010 | DOI: 10.1002/ajmg.a.33609

    8. Further characterization of microdeletion syndrome involving 2p15-p16.1 (pages 2604–2608)

      Têmis Maria Félix, Aline Lourenço Petrin, Maria Teresa Vieira Sanseverino and Jeffrey C. Murray

      Version of Record online: 26 AUG 2010 | DOI: 10.1002/ajmg.a.33612

    9. Mutations in the G6PC3 gene cause Dursun syndrome (pages 2609–2611)

      Siddharth Banka, William G. Newman, R. Koksal Özgül and Ali Dursun

      Version of Record online: 26 AUG 2010 | DOI: 10.1002/ajmg.a.33615

    10. A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi–Goutières syndrome (pages 2612–2617)

      Charlotte A. Haaxma, Yanick J. Crow, Maurice A.M. van Steensel, Martin M.Y. Lammens, Gillian I. Rice, Marcel M. Verbeek and Michèl A.A.P. Willemsen

      Version of Record online: 26 AUG 2010 | DOI: 10.1002/ajmg.a.33620

    11. Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease (pages 2618–2622)

      Matthew G. Sampson, Curtis R. Coughlin II, Paige Kaplan, Laura K. Conlin, Kevin E.C. Meyers, Elaine H. Zackai, Nancy B. Spinner and Lawrence Copelovitch

      Version of Record online: 26 AUG 2010 | DOI: 10.1002/ajmg.a.33628

    12. Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: Expansion of phenotype (pages 2623–2627)

      Nikola Babovic, Patricia S. Simmons, Christopher Moir, Erik C. Thorland, Bernd Scheithauer, Troy J. Gliem and Dusica Babovic-Vuksanovic

      Version of Record online: 2 SEP 2010 | DOI: 10.1002/ajmg.a.33637

    13. Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation (pages 2628–2633)

      Ayse Tulin Mansur, Nursel H. Elcioglu, Silke Redler, Zehra A. Serdar, Sule Cetinel, Regina C. Betz and Nurten A. Akarsu

      Version of Record online: 2 SEP 2010 | DOI: 10.1002/ajmg.a.33649

    14. Tissue-limited mosaicism for monosomy 13 (pages 2634–2639)

      Mahin Golabi, Aaron W. James, William V. Good and Philip D. Cotter

      Version of Record online: 2 SEP 2010 | DOI: 10.1002/ajmg.a.33651

    15. Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I) (pages 2640–2645)

      Shilpa Chetty-John, Katie Piwnica-Worms, Joy Bryant, Isa Bernardini, Roxanne E. Fischer, Theo Heller, William A. Gahl and Meral Gunay-Aygun

      Version of Record online: 3 SEP 2010 | DOI: 10.1002/ajmg.a.33666

  8. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Research Articles
    7. Genetic Drift
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondences
    12. Correspondence
    1. Balanced transmission of a paternal complex chromosomal rearrangement involving chromosomes 2, 3, and 18 (pages 2646–2650)

      Audrey Basinko, Aurore Perrin, Huyen Anh Nguyen, Frédéric Morel, Marie-Josée Le Bris, Anne-Hélène Saliou, Michel Collet, Philippe Parent, Caroline Benech, Sylvia Quemener, Claude Ferec, Nathalie Douet-Guilbert and Marc De Braekeleer

      Version of Record online: 9 SEP 2010 | DOI: 10.1002/ajmg.a.32982

    2. 11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features (pages 2651–2655)

      Ariana Kariminejad, Roxana Kariminejad, Andreas Tzschach, Hamid Najafi, Alischo Ahmed, Reinhard Ullmann, Hans-Hilger Ropers and Mohamad Hasan Kariminejad

      Version of Record online: 26 AUG 2010 | DOI: 10.1002/ajmg.a.33623

    3. Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome (pages 2656–2657)

      Hiram Larangeira de Almeida Jr., Patrícia Caspary, Rodrigo Pereira Duquia, Rowdy Meijer and Maurice van Steensel

      Version of Record online: 2 SEP 2010 | DOI: 10.1002/ajmg.a.33625

    4. R75Q dominant mutation in GJB2 gene silenced by the in cis recessive mutation c.35delG (pages 2658–2660)

      Sandra Iossa, Viviana Chinetti, Virginia Corvino, Elio Marciano and Annamaria Franzè

      Version of Record online: 2 SEP 2010 | DOI: 10.1002/ajmg.a.33630

    5. Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations (pages 2661–2663)

      M. Santos, K. Mrasek, I. Madrigal, M.R. Martorell, A. González-Meneses, G. Rodríguez-Criado, M. Milà, T. Liehr and C. Fuster

      Version of Record online: 2 SEP 2010 | DOI: 10.1002/ajmg.a.33638

    6. A novel mutation in the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis (pages 2664–2665)

      Fanny Morice-Picard, Christine Léauté-Labrèze, Aude Décor, Franck Boralevi, Didier Lacombe, Alain Taieb and Judith Fischer

      Version of Record online: 2 SEP 2010 | DOI: 10.1002/ajmg.a.33648

  9. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Research Articles
    7. Genetic Drift
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondences
    12. Correspondence
    1. Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement (pages 2670–2680)

      Ascensión Vera-Carbonell, Isabel López-Expósito, Juan Antonio Bafalliu, María Ballesta-Martínez, Guillermo Glóver, Carina Llópis, Rosa Moya-Quiles, Javier Suela, Asunción Fernández and Encarna Guillén-Navarro

      Version of Record online: 26 AUG 2010 | DOI: 10.1002/ajmg.a.33613

  10. Correspondences

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Research Articles
    7. Genetic Drift
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondences
    12. Correspondence
  11. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Research Articles
    7. Genetic Drift
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondences
    12. Correspondence

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