Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 12

Results: 12

Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1635, doi. 10.1002/humu.22174

By:

Bi, Cheng;
Wu, Jinyu;
Jiang, Tao;
Liu, Qi;
Cai, Wanshi;
Yu, Ping;
Cai, Tao;
Zhao, Mei;
Jiang, Yong-hui;
Sun, Zhong Sheng

Publication type:

Article

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 ( NF1) gene.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1687, doi. 10.1002/humu.22162

By:

Thomas, Laura;
Richards, Mark;
Mort, Matthew;
Dunlop, Elaine;
Cooper, David N.;
Upadhyaya, Meena

Publication type:

Article

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1639, doi. 10.1002/humu.22237

By:

Puffenberger, Erik G.;
Jinks, Robert N.;
Wang, Heng;
Xin, Baozhong;
Fiorentini, Christopher;
Sherman, Eric A.;
Degrazio, Dominick;
Shaw, Calvin;
Sougnez, Carrie;
Cibulskis, Kristian;
Gabriel, Stacey;
Kelley, Richard I.;
Morton, D. Holmes;
Strauss, Kevin A.

Publication type:

Article

Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1630, doi. 10.1002/humu.22167

By:

Lalli, Matthew A.;
Garcia, Gloria;
Madrigal, Lucia;
Arcos-Burgos, Mauricio;
Arcila, Mary Luz;
Kosik, Kenneth S.;
Lopera, Francisco

Publication type:

Article

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1656, doi. 10.1002/humu.22155

By:

Smith, Holly;
Galmes, Romain;
Gogolina, Ekaterina;
Straatman-Iwanowska, Anna;
Reay, Kim;
Banushi, Blerida;
Bruce, Christopher K.;
Cullinane, Andrew R.;
Romero, Rene;
Chang, Richard;
Ackermann, Oanez;
Baumann, Clarisse;
Cangul, Hakan;
Cakmak Celik, Fatma;
Aygun, Canan;
Coward, Richard;
Dionisi-Vici, Carlo;
Sibbles, Barbara;
Inward, Carol;
Ae Kim, Chong

Publication type:

Article

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1626, doi. 10.1002/humu.22166

By:

Yagnik, Garima;
Ghuman, Apar;
Kim, Sundon;
Stevens, Christina G.;
Kimonis, Virginia;
Stoler, Joan;
Sanchez-Lara, Pedro A.;
Bernstein, Jonathan A.;
Naydenov, Cyril;
Drissi, Hicham;
Cunningham, Michael L.;
Kim, Jinoh;
Boyadjiev, Simeon A.

Publication type:

Article

Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1665, doi. 10.1002/humu.22159

By:

Brewster, Brooke L.;
Rossiello, Francesca;
French, Juliet D.;
Edwards, Stacey L.;
Wong, Ming;
Wronski, Ania;
Whiley, Phillip;
Waddell, Nic;
Chen, Xiaowei;
Bove, Betsy;
kConFab;
Hopper, John L.;
John, Esther M.;
Andrulis, Irene;
Daly, Mary;
Volorio, Sara;
Bernard, Loris;
Peissel, Bernard;
Manoukian, Siranoush;
Barile, Monica

Publication type:

Article

Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1708, doi. 10.1002/humu.22161

By:

Mittag, Florian;
Büchel, Finja;
Saad, Mohamad;
Jahn, Andreas;
Schulte, Claudia;
Bochdanovits, Zoltan;
Simón-Sánchez, Javier;
Nalls, Mike A.;
Keller, Margaux;
Hernandez, Dena G.;
Gibbs, J. Raphael;
Lesage, Suzanne;
Brice, Alexis;
Heutink, Peter;
Martinez, Maria;
Wood, Nicholas W;
Hardy, John;
Singleton, Andrew B.;
Zell, Andreas;
Gasser, Thomas

Publication type:

Article

Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1676, doi. 10.1002/humu.22160

By:

Forrest, Marc;
Chapman, Ria M.;
Doyle, A. Michelle;
Tinsley, Caroline L.;
Waite, Adrian;
Blake, Derek J.

Publication type:

Article

Functional characterization of MLH1 missense variants identified in lynch syndrome patients.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1647, doi. 10.1002/humu.22153

By:

Andersen, Sofie Dabros;
Liberti, Sascha Emilie;
Lützen, Anne;
Drost, Mark;
Bernstein, Inge;
Nilbert, Mef;
Dominguez, Mev;
Nyström, Minna;
Hansen, Thomas Van Overeem;
Christoffersen, Janus Wiese;
Jäger, Anne Charlotte;
de Wind, Niels;
Nielsen, Finn Cilius;
Tørring, Pernille M.;
Rasmussen, Lene Juel

Publication type:

Article

Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: Application for diagnosis of osteogenesis imperfecta.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1697, doi. 10.1002/humu.22146

By:

Valentina Gentile, Filomena;
Zuntini, Monia;
Parra, Alessandro;
Battistelli, Luca;
Pandolfi, Martina;
Pals, Gerard;
Sangiorgi, Luca

Publication type:

Article

Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future.

Published in:

Human Mutation, 2012, v. 33, n. 12, p. 1617, doi. 10.1002/humu.22168

By:

Rasmussen, Lene Juel;
Heinen, Christopher D.;
Royer-Pokora, Brigitte;
Drost, Mark;
Tavtigian, Sean;
Hofstra, Robert M.W.;
de Wind, Niels

Publication type:

Article