Human Mutation

Cover image for Vol. 32 Issue 9

September 2011

Volume 32, Issue 9

Pages 989–1071

  1. Brief Reports

    1. Top of page
    2. Brief Reports
    3. Research Articles
    4. Methods
    1. A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy (pages 989–994)

      Myriam Vezain, Bénédicte Gérard, Séverine Drunat, Benoît Funalot, Séverine Fehrenbach, Virginie N'Guyen-Viet, Jean-Michel Vallat, Thierry Frébourg, Mario Tosi, Alexandra Martins and Pascale Saugier-Veber

      Article first published online: 16 AUG 2011 | DOI: 10.1002/humu.21528

    2. Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management (pages 995–999)

      Nathalie Roux-Buisson, John Rendu, Isabelle Denjoy, Pascale Guicheney, Alice Goldenberg, Nadine David, Laurence Faivre, Olivier Barthez, Gian Antonio Danieli, Isabelle Marty, Joel Lunardi and Julien Fauré

      Article first published online: 5 AUG 2011 | DOI: 10.1002/humu.21537

    3. A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women (pages 1000–1003)

      Yin Liu, Ji Liao, Ye Xu, Weiqiu Chen, Dongyun Liu, Tao Ouyang, Jinfeng Li, Tianfeng Wang, Zhaoqing Fan, Tie Fan, Benyao Lin, Xingzhi Xu and Yuntao Xie

      Article first published online: 30 JUN 2011 | DOI: 10.1002/humu.21538

    4. The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers (pages 1004–1007)

      Amandine I. Garcia, David G. Cox, Laure Barjhoux, Carole Verny-Pierre, Daniel Barnes, Gemo Study Collaborators, Antonis C. Antoniou, Dominique Stoppa-Lyonnet, Olga M. Sinilnikova and Sylvie Mazoyer

      Article first published online: 12 JUL 2011 | DOI: 10.1002/humu.21539

  2. Research Articles

    1. Top of page
    2. Brief Reports
    3. Research Articles
    4. Methods
    1. You have full text access to this OnlineOpen article
      ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies (pages 1008–1018)

      Tamuno Alfred, Yoav Ben-Shlomo, Rachel Cooper, Rebecca Hardy, Cyrus Cooper, Ian J. Deary, David Gunnell, Sarah E. Harris, Meena Kumari, Richard M. Martin, Colin N. Moran, Yannis P. Pitsiladis, Susan M. Ring, Avan Aihie Sayer, George Davey Smith, John M. Starr, Diana Kuh, Ian N.M. Day and and the HALCyon study team

      Article first published online: 20 JUL 2011 | DOI: 10.1002/humu.21526

    2. Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency (pages 1019–1027)

      Sandra Brasil, Hiu Man Viecelli, David Meili, Anahita Rassi, Lourdes R. Desviat, Belen Pérez, Magdalena Ugarte and Beat Thöny

      Article first published online: 4 AUG 2011 | DOI: 10.1002/humu.21529

    3. Analysis of pathway mutation profiles highlights collaboration between cancer-associated superpathways (pages 1028–1035)

      Yunyan Gu, Wenyuan Zhao, Jiguang Xia, Yuannv Zhang, Ruihong Wu, Chenguang Wang and Zheng Guo

      Article first published online: 12 JUL 2011 | DOI: 10.1002/humu.21541

    4. Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes (pages 1036–1045)

      Rui Liu, Hannemieke D.W. van der Lei, Xuemin Wang, Noel C. Wortham, Hua Tang, Carola G.M. van Berkel, Tsitsi Arikana Mufunde, Weida Huang, Marjo S. van der Knaap, Gert C. Scheper and Christopher G. Proud

      Article first published online: 16 AUG 2011 | DOI: 10.1002/humu.21535

    5. Clinical and biochemical heterogeneity associated with fumarase deficiency (pages 1046–1052)

      Chris Ottolenghi, Laurence Hubert, Yannick Allanore, Anais Brassier, Cécilia Altuzarra, Caroline Mellot-Draznieks, Soumeya Bekri, Alice Goldenberg, Severine Veyrieres, Nathalie Boddaert, Valérie Barbier, Vassili Valayannopoulos, Abdelhamid Slama, Dominique Chrétien, Daniel Ricquier, Stéphane Marret, Thierry Frebourg, Daniel Rabier, Arnold Munnich, Yves de Keyzer, Hervé Toulhoat and Pascale de Lonlay

      Article first published online: 12 JUL 2011 | DOI: 10.1002/humu.21534

  3. Methods

    1. Top of page
    2. Brief Reports
    3. Research Articles
    4. Methods
    1. Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes (pages 1053–1062)

      Machteld Baetens, Lut Van Laer, Kim De Leeneer, Jan Hellemans, Joachim De Schrijver, Hendrik Van De Voorde, Marjolijn Renard, Hal Dietz, Ronald V. Lacro, Björn Menten, Wim Van Criekinge, Julie De Backer, Anne De Paepe, Bart Loeys and Paul J. Coucke

      Article first published online: 20 JUL 2011 | DOI: 10.1002/humu.21525

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