American Journal of Medical Genetics Part A

Cover image for Vol. 158A Issue 5

May 2012

Volume 158A, Issue 5

Pages C1–C1, fm i–fm v, vii–x, 969–1245

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    11. 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. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    11. 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. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    11. 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
      In this issue (page x)

      Version of Record online: 19 APR 2012 | DOI: 10.1002/ajmg.a.35435

  4. Invited Comments

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    11. Correspondence
    1. Diagnostic yield in adults screened at the marfan outpatient clinic using the 1996 and 2010 ghent nosologies (pages 982–988)

      Jan J.J. Aalberts, Chris H.L. Thio, Agnes G. Schuurman, Irene M. van Langen, Bert A.E. van der Pol, J. Peter van Tintelen and Maarten P. van den Berg

      Version of Record online: 27 MAR 2012 | DOI: 10.1002/ajmg.a.35343

    2. A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population (pages 989–995)

      Jeong Hoon Yang, Hyejin Han, Shin Yi Jang, Ju Ryoung Moon, Kiick Sung, Tae-Young Chung, Heung Jae Lee, Chang-Seok Ki and Duk-Kyung Kim

      Version of Record online: 7 DEC 2011 | DOI: 10.1002/ajmg.a.34392

    3. A microdeletion proximal of the critical deletion region is associated with mild Wolf–Hirschhorn syndrome (pages 996–1004)

      Femke Hannes, Peter Hammond, Oliver Quarrell, Jean-Pierre Fryns, Koenraad Devriendt and Joris R. Vermeesch

      Version of Record online: 21 MAR 2012 | DOI: 10.1002/ajmg.a.35299

    4. Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features (pages 1005–1013)

      Henry C. Lin, Phuc Le Hoang, Anne Hutchinson, Grace Chao, Jennifer Gerfen, Kathleen M. Loomes, Ian Krantz, Binita M. Kamath and Nancy B. Spinner

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35255

    5. The face in congenital melanocytic nevus syndrome (pages 1014–1019)

      Veronica Kinsler, Adam C. Shaw, Johannes H. Merks and Raoul C. Hennekam

      Version of Record online: 21 MAR 2012 | DOI: 10.1002/ajmg.a.34217

    6. Smith–Lemli–Opitz syndrome: Objective assessment of facial phenotype (pages 1020–1028)

      Małgorzata J.M. Nowaczyk, Mattea Tan, Jemila S. Hamid and Judith E. Allanson

      Version of Record online: 21 MAR 2012 | DOI: 10.1002/ajmg.a.35285

    7. Clinical epidemiology of skeletal dysplasias in South America (pages 1038–1045)

      Cecília O. Barbosa-Buck, Iêda M. Orioli, Maria da Graça Dutra, Jorge Lopez-Camelo, Eduardo E. Castilla and Denise P. Cavalcanti

      Version of Record online: 9 MAR 2012 | DOI: 10.1002/ajmg.a.35246

    8. Analysis of skeletal dysplasias in the Utah population (pages 1046–1054)

      David A. Stevenson, John C. Carey, Janice L.B. Byrne, Sivithee Srisukhumbowornchai and Marcia L. Feldkamp

      Version of Record online: 27 MAR 2012 | DOI: 10.1002/ajmg.a.35327

    9. Severe phenotype in MPS II patients associated with a large deletion including contiguous genes (pages 1055–1059)

      Ana Carolina Brusius-Facchin, Carolina Fischinger Moura De Souza, Ida Vanessa D. Schwartz, Mariluce Riegel, Maria Isabel Melaragno, Patrícia Correia, Lúcia Marques Moraes, Juan Llerena Jr., Roberto Giugliani and Sandra Leistner-Segal

      Version of Record online: 10 APR 2012 | DOI: 10.1002/ajmg.a.35271

    10. Reduced telomere length in individuals with FMR1 premutations and full mutations (pages 1060–1065)

      Edmund C. Jenkins, Flora Tassone, Lingling Ye, André T. Hoogeveen, W. Ted Brown, Randi J. Hagerman and Paul J. Hagerman

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35275

    11. COL1A1 association and otosclerosis: A meta-analysis (pages 1066–1070)

      Isabelle Schrauwen, Ayda Khalfallah, Megan Ealy, Erik Fransen, Charlotte Claes, Alex Huber, Laura Rodriguez Murillo, Saber Masmoudi, Richard J.H. Smith and Guy Van Camp

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35276

    12. 12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility (pages 1071–1076)

      Irene Madrigal, Margarita Martinez, Laia Rodriguez-Revenga, Ana Carrió and Montserrat Milà

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35287

    13. Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies (pages 1077–1082)

      Caio R.D.C. Quaio, Jozélio F. Carvalho, Clovis A. da Silva, Cleonice Bueno, Amanda S. Brasil, Alexandre C. Pereira, Alexander A.L. Jorge, Alexsandra C. Malaquias, Chong A. Kim and Débora R. Bertola

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35290

    14. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey (pages 1083–1094)

      Yu Abe, Yoko Aoki, Shinichi Kuriyama, Hiroshi Kawame, Nobuhiko Okamoto, Kenji Kurosawa, Hirofumi Ohashi, Seiji Mizuno, Tsutomu Ogata, Shigeo Kure, Tetsuya Niihori, Yoichi Matsubara and Costello and CFC syndrome study group in Japan

      Version of Record online: 11 APR 2012 | DOI: 10.1002/ajmg.a.35292

    15. Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype (pages 1095–1101)

      Karen W. Gripp, Elizabeth Hopkins, Alvaro Serrano, Norma J. Leonard, Deborah L. Stabley and Katia Sol-Church

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35294

    16. You have full text access to this OnlineOpen article
      Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val (pages 1102–1110)

      Emma M.M. Burkitt-Wright, Lisa Bradley, Jennifer Shorto, Vivienne P.M. McConnell, Caroline Gannon, Helen V. Firth, Soo-Mi Park, Angela D'Amore, Paul F. Munyard, Peter D. Turnpenny, Amanda Charlton, Meredith Wilson and Bronwyn Kerr

      Version of Record online: 11 APR 2012 | DOI: 10.1002/ajmg.a.35296

    17. Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype (pages 1111–1117)

      Malin Kvarnung, Anna Lindstrand, Helena Malmgren, Anders Thåström, Lena Jacobson, Niklas Dahl, Johanna Lundin and Elisabeth Blennow

      Version of Record online: 11 APR 2012 | DOI: 10.1002/ajmg.a.35311

    18. Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects (pages 1124–1134)

      Huiping Zhu, Wei Yang, Wei Lu, Analee J. Etheredge, Edward J. Lammer, Richard H. Finnell, Suzan L. Carmichael and Gary M. Shaw

      Version of Record online: 11 APR 2012 | DOI: 10.1002/ajmg.a.35313

    19. You have full text access to this OnlineOpen article
  6. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    11. Correspondence
    1. Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989–2009 (pages 1151–1157)

      Joan K. Morris, Eva Alberman, David Mutton and Patricia Jacobs

      Version of Record online: 21 MAR 2012 | DOI: 10.1002/ajmg.a.35248

    2. Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation (pages 1158–1163)

      Young Bae Sohn, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Sun-Tae Ji, Eun Kyung Kwon, Sun Ju Han, Se Jung Oh, Yong Jae Park, Ah-Ra Ko, Kyung-Hoon Paik, Jeehun Lee, Dong Hwan Lee and Dong-Kyu Jin

      Version of Record online: 11 APR 2012 | DOI: 10.1002/ajmg.a.35263

    3. Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene (pages 1164–1169)

      Marco Castori, Marco Ritelli, Nicoletta Zoppi, Luisa Molisso, Nicola Chiarelli, Fulvio Zaccagna, Paola Grammatico and Marina Colombi

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35266

    4. Complex autism spectrum disorder in a patient with a 17q12 microduplication (pages 1170–1177)

      Tracy Brandt, Khyati Desai, David Grodberg, Lakshmi Mehta, Ninette Cohen, Ana Tryfon, Alexander Kolevzon, Latha Soorya, Joseph D. Buxbaum and Lisa Edelmann

      Version of Record online: 4 APR 2012 | DOI: 10.1002/ajmg.a.35267

    5. KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis (pages 1178–1184)

      Amanda S. Brasil, Alexsandra C. Malaquias, Chong A. Kim, José Eduardo Krieger, Alexander A.L. Jorge, Alexandre C. Pereira and Débora R. Bertola

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35270

    6. Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: A new collagenopathy? (pages 1185–1189)

      André Mégarbané, Nadine Hanna, Eliane Chouery, Nadine Jalkh, Cybel Mehawej and Catherine Boileau

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35279

    7. Microdeletion 19p13.2 in an almost 5-year-old boy (pages 1190–1194)

      Edda Haberlandt, Ana Spreiz, Sara Baumgartner Sigl, Carolin Janetschek, Benno Röthlisberger, Sibylle Zotter, Kevin Rostasy, Johannes Zschocke and Dieter Kotzot

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35291

    8. Clinical and molecular characterization of a second case of 7p22.1 microduplication (pages 1200–1203)

      Egle Preiksaitiene, Jurate Kasnauskiene, Zivile Ciuladaite, Birute Tumiene, Philippos C. Patsalis and Vaidutis Kučinskas

      Version of Record online: 11 APR 2012 | DOI: 10.1002/ajmg.a.35300

    9. Somatic mosaicism and the phenotypic expression of COL2A1 mutations (pages 1204–1207)

      Sonali Nagendran, Allan J. Richards, Annie McNinch, Richard N. Sandford and Martin P. Snead

      Version of Record online: 11 APR 2012 | DOI: 10.1002/ajmg.a.35303

    10. Pancreatic insufficiency in Toriello–Carey syndrome: Report of a second patient (pages 1208–1211)

      Khalil I. El-Chammas, Narayanan Venkatasubramani, Regan Veith, Neha Sekhri, William Rhead, Helga V. Toriello and Praveen S. Goday

      Version of Record online: 11 APR 2012 | DOI: 10.1002/ajmg.a.35304

    11. Loeys–Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation (pages 1212–1215)

      Kevin M. Kuppler, Daniel J. Kirse, James T. Thompson and Chad R. Haldeman-Englert

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35274

  7. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    11. Correspondence
    1. Spontaneous coronary artery dissection in a young woman with Loeys–Dietz syndrome (pages 1216–1218)

      Rossella Fattori, Pietro Sangiorgio, Elisabetta Mariucci, Marco Ritelli, Anita Wischmeijer, Cristiano Greco and Marina Colombi

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35277

    2. EEC syndrome-like phenotype in a patient with an IRF6 mutation (pages 1219–1220)

      Rika Kosaki, Tsuyoshi Kaneko, Chiharu Torii and Kenjiro Kosaki

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35273

    3. A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male (pages 1221–1224)

      Page L. Sorensen, Kirin Basuta, Guadalupe Mendoza-Morales, Louise W. Gane, Andrea Schneider, Randi Hagerman and Flora Tassone

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35293

    4. Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene (pages 1225–1228)

      Maria Francisca Coutinho, Liliana da Silva Santos, Katta Mohan Girisha, Kapaettu Satyamoorthy, Lúcia Lacerda, Maria João Prata and Sandra Alves

      Version of Record online: 11 APR 2012 | DOI: 10.1002/ajmg.a.35295

    5. A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America (pages 1229–1232)

      Catrina Loucks, Jillian S. Parboosingh, Jessica X. Chong, Carole Ober, Victoria M. Siu, Robert A. Hegele, C. Anthony Rupar, D. Ross McLeod, Alfredo Pinto, Albert E. Chudley and A. Micheil Innes

      Version of Record online: 11 APR 2012 | DOI: 10.1002/ajmg.a.35302

    6. Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies (pages 1233–1235)

      Lucilene Arilho Ribeiro-Bicudo, Rodrigo G. Quiezi, Maria Leine Guion-Almeida, Chiara Legnaro and Antonio Richieri-Costa

      Version of Record online: 11 APR 2012 | DOI: 10.1002/ajmg.a.35305

  8. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    11. Correspondence
    1. Consanguinity and the risk of congenital heart disease (pages 1236–1241)

      Joseph T.C. Shieh, Alan H. Bittles and Louanne Hudgins

      Version of Record online: 9 APR 2012 | DOI: 10.1002/ajmg.a.35272

  9. Book Reviews

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Research Reviews
    10. Book Reviews
    11. Correspondence
    1. Defining small eye phenotypes (page 1243)

      Kamron Khan and Osama Giasin

      Version of Record online: 30 MAR 2012 | DOI: 10.1002/ajmg.a.35208

    2. Patients within the broad holoprosencephaly spectrum have distinct and subtle ophthalmologic anomalies: Response to Khan (pages 1244–1245)

      Daniel E. Pineda-Alvarez, Benjamin D. Solomon, Erich Roessler, Joan Z. Balog, Donald W. Hadley, Wadih M. Zein, Brian P. Brooks and Maximilian Muenke

      Version of Record online: 7 FEB 2012 | DOI: 10.1002/ajmg.a.35207

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