Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 9

Results: 11

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.

Published in:

Human Mutation, 2011, v. 32, n. 9, p. 1053, doi. 10.1002/humu.21525

By:

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

Publication type:

Article

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency.

Published in:

Human Mutation, 2011, v. 32, n. 9, p. 1019, doi. 10.1002/humu.21529

By:

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

Publication type:

Article

Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes.

Published in:

Human Mutation, 2011, v. 32, n. 9, p. 1036, doi. 10.1002/humu.21535

By:

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

Publication type:

Article

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy.

Published in:

Human Mutation, 2011, v. 32, n. 9, p. 989, doi. 10.1002/humu.21528

By:

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

Publication type:

Article

Clinical and biochemical heterogeneity associated with fumarase deficiency.

Published in:

Human Mutation, 2011, v. 32, n. 9, p. 1046, doi. 10.1002/humu.21534

By:

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

Publication type:

Article

The rs2910164:G>C SNP in the MIR146A gene is not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Published in:

Human Mutation, 2011, v. 32, n. 9, p. 1004, doi. 10.1002/humu.21539

By:

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

Publication type:

Article

Analysis of pathway mutation profiles highlights collaboration between cancer-associated superpathways.

Published in:

Human Mutation, 2011, v. 32, n. 9, p. 1028, doi. 10.1002/humu.21541

By:

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

Publication type:

Article

A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women.

Published in:

Human Mutation, 2011, v. 32, n. 9, p. 1000, doi. 10.1002/humu.21538

By:

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

Publication type:

Article

Avoidance of pseudogene interference in the detection of 3′ deletions in PMS2.

Published in:

Human Mutation, 2011, v. 32, n. 9, p. 1063, doi. 10.1002/humu.21540

By:

Vaughn, Cecily P.;
Hart, Kimberly J.;
Samowitz, Wade S.;
Swensen, Jeffrey J.

Publication type:

Article

ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies.

Published in:

Human Mutation, 2011, v. 32, n. 9, p. 1008, doi. 10.1002/humu.21526

By:

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

Publication type:

Article

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.

Published in:

Human Mutation, 2011, v. 32, n. 9, p. 995, doi. 10.1002/humu.21537

By:

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

Publication type:

Article