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
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
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
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