American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

May 2011

Volume 155, Issue 5

Pages C1–C1, fm i–fm ix, x–x, 943–1215

  1. Cover Image

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Invited Comments
    7. New Syndrome
    8. Invited Comments
    9. Research Letters
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Research Reviews
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
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      Table of Contents, Volume 155, Number 5, May 2011 (pages fm i–fm v)

      Article first published online: 19 APR 2011 | DOI: 10.1002/ajmg.a.34093

  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Invited Comments
    7. New Syndrome
    8. Invited Comments
    9. Research Letters
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Research Reviews
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
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    3. You have free access to this content
      In this issue (page x)

      Article first published online: 19 APR 2011 | DOI: 10.1002/ajmg.a.34062

  4. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Invited Comments
    7. New Syndrome
    8. Invited Comments
    9. Research Letters
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Research Reviews
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
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      Nosology and classification of genetic skeletal disorders: 2010 revision (pages 943–968)

      Matthew L. Warman, Valerie Cormier-Daire, Christine Hall, Deborah Krakow, Ralph Lachman, Martine LeMerrer, Geert Mortier, Stefan Mundlos, Gen Nishimura, David L. Rimoin, Stephen Robertson, Ravi Savarirayan, David Sillence, Juergen Spranger, Sheila Unger, Bernhard Zabel and Andrea Superti-Furga

      Article first published online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33909

  5. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Invited Comments
    7. New Syndrome
    8. Invited Comments
    9. Research Letters
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Research Reviews
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
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    2. Invited comment on terminology (pages 972–973)

      John B. Moeschler and Jan Nisbeft

      Article first published online: 15 MAR 2011 | DOI: 10.1002/ajmg.a.33830

  6. New Syndrome

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

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Invited Comments
    7. New Syndrome
    8. Invited Comments
    9. Research Letters
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Research Reviews
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. Differential diagnosis of Smith–Magenis syndrome: 1p36 deletion syndrome (pages 988–992)

      Gustavo H. Vieira, Jayson D. Rodriguez, Raquel Boy, Isaias Soares de Paiva, Barbara R. DuPont, Danilo Moretti-Ferreira and Anand K. Srivastava

      Article first published online: 7 APR 2011 | DOI: 10.1002/ajmg.a.33960

  9. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Invited Comments
    7. New Syndrome
    8. Invited Comments
    9. Research Letters
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Research Reviews
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. Vestibular dysfunction in DFNB1 deafness (pages 993–1000)

      Kelley M. Dodson, Susan H Blanton, Katherine O Welch, Virginia W Norris, Regina L Nuzzo, Jacob A. Wegelin, Ruth S Marin, Walter E Nance, Arti Pandya and Kathleen S Arnos

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33828

    2. Epidemiology of Ebstein anomaly: Prevalence and patterns in Texas, 1999–2005 (pages 1007–1014)

      Philip J. Lupo, Peter H. Langlois and Laura E. Mitchell

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33883

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      Risk factors for aortic valve disease in bicuspid aortic valve: A family-based study (pages 1015–1020)

      Troy J. Calloway, Lisa J. Martin, Xue Zhang, Animesh Tandon, D. Woodrow Benson and Robert B. Hinton

      Article first published online: 7 APR 2011 | DOI: 10.1002/ajmg.a.33974

    4. Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy) (pages 1021–1032)

      Kim M. Keppler-Noreuil, Margaret P. Adam, Judy Welch, Ann Muilenburg and Marcia C. Willing

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33892

    5. Nutritional phases in Prader–Willi syndrome (pages 1040–1049)

      Jennifer L. Miller, Christy H. Lynn, Danielle C. Driscoll, Anthony P. Goldstone, June-Anne Gold, Virginia Kimonis, Elisabeth Dykens, Merlin G. Butler, Jonathan J. Shuster and Daniel J. Driscoll

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33951

    6. Multiple increased osteoclast functions in individuals with neurofibromatosis type 1 (pages 1050–1059)

      David A. Stevenson, Jincheng Yan, Yongzheng He, Huijie Li, Yaling Liu, Qi Zhang, Yongmin Jing, Zhiping Guo, Wei Zhang, Dalong Yang, Xiaohua Wu, Heather Hanson, Xiaohong Li, Karl Staser, David H. Viskochil, John C. Carey, Shi Chen, Lucy Miller, Kent Roberson, Laurie Moyer-Mileur, Menggang Yu, Elisabeth L. Schwarz, Marzia Pasquali and Feng-Chun Yang

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33965

    7. Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome? (pages 1060–1065)

      Vered Shkalim, Liat Ben-Sira, Dov Inbar, Walid Kaadan, Lina Basel-Vanagaite and Rachel Straussberg

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33978

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      The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome? (pages 1066–1072)

      Daniela Q.C.M. Barge-Schaapveld, Saskia M. Maas, Abeltje Polstra, Lia C. Knegt and Raoul C.M. Hennekam

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33991

    9. Wisconsin stillbirth services program: A multifocal approach to stillbirth analysis (pages 1073–1080)

      Beth VanderWielen, Christina Zaleski, Christopher Cold and Elizabeth McPherson

      Article first published online: 7 APR 2011 | DOI: 10.1002/ajmg.a.34016

  10. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Invited Comments
    7. New Syndrome
    8. Invited Comments
    9. Research Letters
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Research Reviews
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
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      LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations (pages 1096–1101)

      Alberto Sensi, Stefano Ceruti, Patrizia Trevisi, Francesca Gualandi, Micol Busi, Ilaria Donati, Marcella Neri, Alessandra Ferlini and Alessandro Martini

      Article first published online: 7 APR 2011 | DOI: 10.1002/ajmg.a.33962

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      Co-occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature (pages 1102–1105)

      Robert Smigiel, Aleksandra Jakubiak, Maria Paola Lombardi, Wojciech Jaworski, Ryszard Slezak, Dariusz Patkowski and Raoul C. Hennekam

      Article first published online: 11 APR 2011 | DOI: 10.1002/ajmg.a.33895

    3. Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus (pages 1106–1108)

      Paolo Prontera, Daniela Rogaia, Cristina Sobacchi, Vanessa Luiza Romanelli Tavares, Giovanni Mazzotta, Maria Rita Passos-Bueno and Emilio Donti

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33826

    4. Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism (pages 1109–1114)

      Karl J. Franek, Julia Butler, John Johnson, Richard Simensen, Michael J. Friez, Frank Bartel, Tonya Moss, Barbara DuPont, Katherine Berry, Margaret Bauman, Cindy Skinner, Roger E. Stevenson and Charles E. Schwartz

      Article first published online: 11 APR 2011 | DOI: 10.1002/ajmg.a.33833

    5. Left ventricular noncompaction in Sotos syndrome (pages 1115–1118)

      Hugo R. Martinez, John W. Belmont, William J. Craigen, Michael D. Taylor and John L. Jefferies

      Article first published online: 11 APR 2011 | DOI: 10.1002/ajmg.a.33838

    6. WNT10A and isolated hypodontia (pages 1119–1122)

      Piranit Kantaputra and Warissara Sripathomsawat

      Article first published online: 11 APR 2011 | DOI: 10.1002/ajmg.a.33840

    7. From VACTERL-H to heterotaxy: Variable expressivity of ZIC3—related disorders (pages 1123–1128)

      Brian Chung, Lisa G. Shaffer, Sarah Keating, Joan Johnson, Bret Casey and David Chitayat

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33859

    8. PTPN11 gene mutation associated with abnormal gonadal determination (pages 1136–1139)

      Shailly Jain Ghai, Sarah Keating and David Chitayat

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33873

    9. In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males (pages 1140–1146)

      Elena Parrini, Isabel Llano Rivas, Joaquin Fernandez Toral, Daniela Pucatti, Sabrina Giglio, Davide Mei and Renzo Guerrini

      Article first published online: 11 APR 2011 | DOI: 10.1002/ajmg.a.33880

    10. Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome (pages 1147–1151)

      André Mégarbané, Eliane Chouery, Cécile Mignon-Ravix, Sandra El Sabbagh, Sandra Corbani, Joelle Abou Ghoch, Nadine Jalkh, Cybel Mehawej, Nicolas Lévy and Laurent Villard

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33938

    11. Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization (pages 1152–1156)

      Aguinaldo Bonalumi Filho, Josiane Souza, Fábio Rueda Faucz, Vanessa Santos Sotomaior, Barbara Dupont, Frank Bartel, Reycel Rodriguez, Charles E. Schwartz, Cindy Skinner, Sarah Alliman and Salmo Raskin

      Article first published online: 11 APR 2011 | DOI: 10.1002/ajmg.a.33942

    12. der(4)t(Y;4): Three-generation transmission and sperm meiotic segregation analysis (pages 1157–1161)

      Miluse Vozdova, Vera Horinova, Vendula Wernerova, Romana Skalikova, Roman Rybar, Petra Prinosilova, Eva Oracova and Jiri Rubes

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33953

    13. Wilms tumor in a patient with 22q11.2 microdeletion (pages 1162–1164)

      Paul T. Finch, Eniko K. Pivnick, Wayne Furman and Christine C. Odom

      Article first published online: 31 MAR 2011 | DOI: 10.1002/ajmg.a.33957

    14. SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction (pages 1165–1169)

      Sara Andrabi, Mir Reza Bekheirnia, Patricia Robbins-Furman, Richard Alan Lewis, Thomas W. Prior and Lorraine Potocki

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33968

    15. A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews (pages 1170–1172)

      S. Edvardson, C. Jalas, A. Shaag, S. Zenvirt, C. Landau, I. Lerer and O. Elpeleg

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33972

    16. The Richieri-Costa and Pereira syndrome: Report of two Brazilian siblings and review of literature (pages 1173–1177)

      Josiane Souza, Karin dal Vesco, Rita Tonocchi, Maria Cecília Closs-Ono, Maria Rita Passos-Bueno and Renato da Silva-Freitas

      Article first published online: 11 APR 2011 | DOI: 10.1002/ajmg.a.33975

  11. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Invited Comments
    7. New Syndrome
    8. Invited Comments
    9. Research Letters
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Research Reviews
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. Expanding the skeletal phenotype of Loeys-Dietz syndrome (pages 1178–1183)

      Sérgio B. Sousa, Karen Lambot-Juhan, Marlène Rio, Geneviève Baujat, Vicken Topouchian, Nadine Hanna, Martine Le Merrer, Francis Brunelle, Arnold Munnich, Catherine Boileau and Valérie Cormier-Daire

      Article first published online: 11 APR 2011 | DOI: 10.1002/ajmg.a.33813

    2. Short-term follow-up of a Brazilian patient with Cantú syndrome (pages 1184–1188)

      Carla Graziadio, Rafael F.M. Rosa, Rosana C.M. Rosa, Paulo R.G. Zen, José A.M. Flores and Giorgio A. Paskulin

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33904

    3. Monozygotic twins of Rubinstein–Taybi syndrome discordant for glaucoma (pages 1189–1191)

      Rika Kosaki, Hideki Fujita, Hazuki Takada, Michiyo Okada, Chiharu Torii and Kenjiro Kosaki

      Article first published online: 7 APR 2011 | DOI: 10.1002/ajmg.a.33967

    4. Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems (pages 1192–1195)

      Adam J. de Smith, Mieke M. van Haelst, Richard J. Ellis, Susan E. Holder, Stewart J. Payne, Sugera K. Hashim, Philippe Froguel and Alexandra I.F. Blakemore

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33986

    5. A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation (pages 1196–1201)

      Anne M. Slavotinek, Jill A. Rosenfeld, Ryan Chao, Dimitry Niyazov, Marthand Eswara, Patricia I. Bader, David W. Stockton, Pawel Stankiewicz and Margaret P. Adam

      Article first published online: 7 APR 2011 | DOI: 10.1002/ajmg.a.34002

  12. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Invited Comments
    7. New Syndrome
    8. Invited Comments
    9. Research Letters
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Research Reviews
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss (pages 1202–1211)

      Niloofar Bazazzadegan, Abraham M. Sheffield, Masoomeh Sobhani, Kimia Kahrizi, Nicole C. Meyer, Guy Van Camp, Nele Hilgert, Seyedeh Sedigheh Abedini, Farkhondeh Habibi, Ahmad Daneshi, Carla Nishimura, Matthew R. Avenarius, Mohammad Farhadi, Richard J.H. Smith and Hossein Najmabadi

      Article first published online: 11 APR 2011 | DOI: 10.1002/ajmg.a.33209

  13. Book Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Invited Comments
    7. New Syndrome
    8. Invited Comments
    9. Research Letters
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Research Reviews
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. Book review (page 1212)

      F. Clarke Fraser

      Article first published online: 4 APR 2011 | DOI: 10.1002/ajmg.a.33973

  14. Correspondence

    1. Top of page
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    4. the AJMG SEQUENCE
    5. Research Articles
    6. Invited Comments
    7. New Syndrome
    8. Invited Comments
    9. Research Letters
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Research Reviews
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
    1. 6q27 subtelomeric deletions: Is there a specific phenotype? (pages 1213–1214)

      Chiara Rigon, Leonardo Salviati, Romina Mandarano, Marta Donà and Maurizio Clementi

      Article first published online: 11 APR 2011 | DOI: 10.1002/ajmg.a.33877

  15. Corrigenda

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Invited Comments
    7. New Syndrome
    8. Invited Comments
    9. Research Letters
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Research Reviews
    14. Book Reviews
    15. Correspondence
    16. Corrigenda
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      Corrigendum to “Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome” Am J Med Genet 152A: 1661-1669 (page 1215)

      Miles D. Thompson, Marjan M. Nezarati, Gabriele Gillessen-Kaesbach, Peter Meinecke, Roberto Mendoza-Londono, Etienne Mornet, Isabelle Brun-Heath, Catherine Prost Squarcioni, Laurence Legeai-Mallet, Arnold Munnich and David E.C. Cole

      Article first published online: 19 APR 2011 | DOI: 10.1002/ajmg.a.33680

      This article corrects:

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