Works matching IS 10597794 AND DT 2010 AND VI 31 AND IP 2

Results: 17

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. 136, doi. 10.1002/humu.21160

By:

Wein, Nicolas;
Avril, Aurélie;
Bartoli, Marc;
Beley, Cyriaque;
Chaouch, Soraya;
Laforêt, Pascal;
Behin, Anthony;
Butler-Browne, Gillian;
Mouly, Vincent;
Krahn, Martin;
Garcia, Luis;
Lévy, Nicolas

Publication type:

Article

Mutations of tropomyosin 3 ( TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. 176, doi. 10.1002/humu.21157

By:

Lawlor, Michael W.;
DeChene, Elizabeth T.;
Roumm, Emily;
Geggel, Amelia S.;
Moghadaszadeh, Behzad;
Beggs, Alan H.

Publication type:

Article

The most frequent DCLRE1C ( ARTEMIS) mutations are based on homologous recombination events.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. 197, doi. 10.1002/humu.21168

By:

Pannicke, Ulrich;
Hönig, Manfred;
Schulze, Ilka;
Rohr, Jan;
Heinz, Gitta A.;
Braun, Sylvia;
Janz, Ingrid;
Rump, Eva-Maria;
Seidel, Markus G.;
Matthes-Martin, Susanne;
Soerensen, Jan;
Greil, Johann;
Stachel, Daniel K.;
Belohradsky, Bernd H.;
Albert, Michael H.;
Schulz, Ansgar;
Ehl, Stephan;
Friedrich, Wilhelm;
Schwarz, Klaus

Publication type:

Article

Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. E1141, doi. 10.1002/humu.21181

By:

Spurdle, Amanda B.;
Lakhani, Sunil R.;
Da Silva, Leonard M.;
Balleine, Rosemary L.;
Investigators, kConFab;
Goldgar, David E.

Publication type:

Article

A thorough assessment of benign genetic variability in GRN and MAPT.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. E1126, doi. 10.1002/humu.21152

By:

Guerreiro, Rita J.;
Washecka, Nicole;
Hardy, John;
Singleton, Andrew

Publication type:

Article

Alu-repeat-induced deletions within the NCF2 gene causing p67- phox-deficient chronic granulomatous disease (CGD).

Published in:

Human Mutation, 2010, v. 31, n. 2, p. 151, doi. 10.1002/humu.21156

By:

Gentsch, Marcus;
Kaczmarczyk, Aneta;
van Leeuwen, Karin;
de Boer, Martin;
Kaus-Drobek, Magdalena;
Dagher, Marie-Claire;
Kaiser, Petra;
Arkwright, Peter D.;
Gahr, Manfred;
Rösen-Wolff, Angela;
Bochtler, Matthias;
Secord, Elizabeth;
Britto-Williams, Pamela;
Saifi, Gulam Mustafa;
Maddalena, Anne;
Dbaibo, Ghassan;
Bustamante, Jacinta;
Casanova, Jean-Laurent;
Roos, Dirk;
Roesler, Joachim

Publication type:

Article

Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. 143, doi. 10.1002/humu.21151

By:

Garritano, Sonia;
Gemignani, Federica;
Palmero, Edenir Inez;
Olivier, Magali;
Martel-Planche, Ghyslaine;
Le Calvez-Kelm, Florence;
Brugiéres, Laurence;
Vargas, Fernando Regla;
Brentani, Ricardo Renzo;
Ashton-Prolla, Patricia;
Landi, Stefano;
Tavtigian, Sean V.;
Hainaut, Pierre;
Achatz, Maria Isabel W.

Publication type:

Article

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. E1163, doi. 10.1002/humu.21184

By:

Kurze, Anna-Katherina;
Galliciotti, Giovanna;
Heine, Claudia;
Mole, Sara E.;
Quitsch, Arne;
Braulke, Thomas

Publication type:

Article

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.

Published in:

2010

By:

Friedrich, Anne;
Garnier, Nicolas;
Gagnière, Nicolas;
Nguyen, Hoan;
Albou, Laurent-Philippe;
Biancalana, Valérie;
Bettler, Emmanuel;
Deléage, Gilbert;
Lecompte, Odile;
Muller, Jean;
Moras, Dino;
Mandel, Jean-Louis;
Toursel, Thierry;
Moulinier, Luc;
Poch, Olivier

Publication type:

Other

XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. 167, doi. 10.1002/humu.21166

By:

Khan, Sikandar G.;
Yamanegi, Koji;
Zheng, Zhi-Ming;
Boyle, Jennifer;
Imoto, Kyoko;
Oh, Kyu-Seon;
Baker, Carl C.;
Gozukara, Engin;
Metin, Ahmet;
Kraemer, Kenneth H.

Publication type:

Article

Exciton Primer-mediated SNP detection in SmartAmp2 reactions.

Published in:

2010

By:

Lezhava, Alexander;
Ishidao, Takefumi;
Ishizu, Yuri;
Naito, Kana;
Hanami, Takeshi;
Katayama, Atsuko;
Kogo, Yasushi;
Soma, Takahiro;
Ikeda, Shuji;
Murakami, Kayoko;
Nogawa, Chihiro;
Itoh, Masayoshi;
Mitani, Yasumasa;
Harbers, Matthias;
Okamoto, Akimitsu;
Hayashizaki, Yoshihide

Publication type:

Other

Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. 184, doi. 10.1002/humu.21159

By:

Santos, Ney P.C.;
Ribeiro-Rodrigues, Elzemar M.;
Ribeiro-dos-Santos, Ândrea K.C.;
Pereira, Rui;
Gusmão, Leonor;
Amorim, António;
Guerreiro, Joáo F.;
Zago, Marco A.;
Matte, Cecília;
Hutz, Mara H.;
Santos, Sidney E.B.

Publication type:

Article

Mutation update for the CSB/ ERCC6 and CSA/ ERCC8 genes involved in Cockayne syndrome.

Published in:

2010

By:

Laugel, V.;
Dalloz, C.;
Durand, M.;
Sauvanaud, F.;
Kristensen, U.;
Vincent, M.C.;
Pasquier, L.;
Odent, S.;
Cormier-Daire, V.;
Gener, B.;
Tobias, E.S.;
Tolmie, J.L.;
Martin-Coignard, D.;
Drouin-Garraud, V.;
Heron, D.;
Journel, H.;
Raffo, E.;
Vigneron, J.;
Lyonnet, S.;
Murday, V.

Publication type:

Other

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. 191, doi. 10.1002/humu.21165

By:

Figueroa, Karla P.;
Minassian, Natali A.;
Stevanin, Giovanni;
Waters, Michael;
Garibyan, Vartan;
Forlani, Sylvie;
Strzelczyk, Adam;
Bürk, Katrin;
Brice, Alexis;
Dürr, Alexandra;
Papazian, Diane M.;
Pulst, Stefan M.

Publication type:

Article

MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. 159, doi. 10.1002/humu.21158

By:

Molatore, Sara;
Russo, Maria Teresa;
D'Agostino, Vito G.;
Barone, Flavia;
Matsumoto, Yoshihiro;
Albertini, Alessandra M.;
Minoprio, Anna;
Degan, Paolo;
Mazzei, Filomena;
Bignami, Margherita;
Ranzani, Guglielmina Nadia

Publication type:

Article

Point of care mutation detection.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. v, doi. 10.1002/humu.21198

By:

Nilsson, Mats

Publication type:

Article

NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in 'Brain-Lung-Thyroid Syndrome'.

Published in:

Human Mutation, 2010, v. 31, n. 2, p. E1146, doi. 10.1002/humu.21183

By:

Guillot, Loïc;
Carré, Aurore;
Szinnai, Gabor;
Castanet, Mireille;
Tron, Elodie;
Jaubert, Francis;
Broutin, Isabelle;
Counil, François;
Feldmann, Delphine;
Clement, Annick;
Polak, Michel;
Epaud, Ralph

Publication type:

Article