Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 3

Results: 13

NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 292, doi. 10.1002/humu.21424

By:

Pasillas, Martina P.;
Shah, Meera;
Kamps, Mark P.

Publication type:

Article

Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 318, doi. 10.1002/humu.21439

By:

Ma, Chi A.;
Wang, Hong-Ying;
Temmerman, Stephane;
Zhao, Yongge;
Wu, Liming;
Hornung, Ronald L.;
Wara, Diane;
Jain, Ashish

Publication type:

Article

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 299, doi. 10.1002/humu.21426

By:

Flanigan, Kevin M.;
Dunn, Diane M.;
von Niederhausern, Andrew;
Soltanzadeh, Payam;
Howard, Michael T.;
Sampson, Jacinda B.;
Swoboda, Kathryn J.;
Bromberg, Mark B.;
Mendell, Jerry R.;
Taylor, Laura E.;
Anderson, Christine B.;
Pestronk, Alan;
Florence, Julaine M.;
Connolly, Anne M.;
Mathews, Katherine D.;
Wong, Brenda;
Finkel, Richard S.;
Bonnemann, Carsten G.;
Day, John W.;
McDonald, Craig

Publication type:

Article

Defining the pathogenicity of creatine deficiency syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 282, doi. 10.1002/humu.21421

By:

Alcaide, Patricia;
Merinero, Begoña;
Ruiz-Sala, Pedro;
Richard, Eva;
Navarrete, Rosa;
Arias, Ángela;
Ribes, Antonia;
Artuch, Rafael;
Campistol, Jaume;
Ugarte, Magdalena;
Rodríguez-Pombo, Pilar

Publication type:

Article

Homozygosity mapping on a single patient-identification of homozygous regions of recent common ancestry by using population data.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 345, doi. 10.1002/humu.21432

By:

Lu Zhang;
Wanling Yang;
Dingge Ying;
Cherny, Stacey S.;
Hildebrandt, Friedhelm;
Pak Chung Sham;
Yu Lung Lau

Publication type:

Article

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 325, doi. 10.1002/humu.21414

By:

Caux-Moncoutier, Virginie;
Castéra, Laurent;
Tirapo, Carole;
Michaux, Dorothée;
Rémon, Marie-Alice;
Laugé, Anthony;
Rouleau, Etienne;
De Pauw, Antoine;
Buecher, Bruno;
Gauthier-Villars, Marion;
Viovy, Jean-Louis;
Stoppa-Lyonnet, Dominique;
Houdayer, Claude

Publication type:

Article

A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. E2050, doi. 10.1002/humu.21436

By:

Kai Jie Wang;
Sha Wang;
Ni-Qian Cao;
Yong-Bin Yan;
Si Quan Zhu

Publication type:

Article

New germline syndrome with brainstem abnormalities and neuroblastoma, caused by ALK mutation.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. v, doi. 10.1002/humu.21487

By:

Wilkie, Andrew O. M.

Publication type:

Article

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 277, doi. 10.1002/humu.21420

By:

Fabre, Alexandre;
Martinez-Vinson, Christine;
Roquelaure, Bertrand;
Missirian, Chantal;
André, Nicolas;
Breton, Anne;
Lachaux, Alain;
Odul, Egritas;
Colomb, Virginie;
Lemale, Julie;
Cézard, Jean-Pierre;
Goulet, Olivier;
Sarles, Jacques;
Levy, Nicolas;
Badens, Catherine

Publication type:

Article

Alterations of excitation-contraction coupling and excitation coupled Ca.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 309, doi. 10.1002/humu.21431

By:

Ullrich, Nina D.;
Fischer, Dirk;
Kornblum, Cornelia;
Walter, Maggie C.;
Niggli, Ernst;
Zorzato, Francesco;
Treves, Susan

Publication type:

Article

Germline gain-of-function mutations of ALK disrupt central nervous system development.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 272, doi. 10.1002/humu.21442

By:

De Pontual, Loïc;
Kettaneh, Dania;
Gordon, Christopher T.;
Oufadem, Myriam;
Boddaert, Nathalie;
Lees, Melissa;
Balu, Laurent;
Lachassinne, Eric;
Petros, Andy;
Mollet, Julie;
Wilson, Louise C.;
Munnich, Arnold;
Brugière, Laurence;
Delattre, Olivier;
Vekemans, Michel;
Etchevers, Heather;
Lyonnet, Stanislas;
Janoueix-Lerosey, Isabelle;
Amiel, Jeanne

Publication type:

Article

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 335, doi. 10.1002/humu.21428

By:

De Leeneer, Kim;
Hellemans, Jan;
De Schrijver, Joachim;
Baetens, Machteld;
Poppe, Bruce;
Van Criekinge, Wim;
De Paepe, Anne;
Coucke, Paul;
Claes, Kathleen

Publication type:

Article

Patterns of human genetic variation inferred from comparative analysis of allelic mutations in blood group antigen genes.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 263, doi. 10.1002/humu.21430

By:

Patnaik, Santosh Kumar;
Blumenfeld, Olga O.

Publication type:

Article