Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 1

Results: 21

Glial Cells Missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 85, doi. 10.1002/humu.20827

By:

Canaff, Lucie;
Zhou, Xiang;
Mosesova, Irina;
Cole, David E.C.;
Hendy, Geoffrey N.

Publication type:

Article

Accepted article preprints, 'In This Issue' featured papers, and updated design for Human Mutation in 2009.

Published in:: 2009
Publication type:: Other

Lipoprotein lipase variants associated with an endophenotype of hypertension: hypertension combined with elevated triglycerides.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 49, doi. 10.1002/humu.20812

By:

Chen, Pei;
Jou, Yuh-Shan;
Fann, Cathy SJ;
Chen, Jaw-Wen;
Chung, Chia-Min;
Lin, Chin-Yu;
Wu, Sheng-Yeu;
Kang, Mei-Jyh;
Chen, Ying-Chuang;
Jong, Yuh-Shiun;
Lo, Huey-Ming;
Kang, Chih-Sen;
Chen, Chien-Chung;
Chang, Huan-Cheng;
Huang, Nai-Kuei;
Wu, Yi-Lin;
Pan, Wen-Harn

Publication type:

Article

Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 22, doi. 10.1002/humu.20806

By:

Madden, Heidi R.;
Fletcher, Sue;
Davis, Mark R.;
Wilton, Steve D.

Publication type:

Article

IDH1 mutations at residue p.R132 ( IDH1<sup>R132</sup>) occur frequently in high-grade gliomas but not in other solid tumors.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 7, doi. 10.1002/humu.20937

By:

Bleeker, Fonnet E.;
Lamba, Simona;
Leenstra, Sieger;
Troost, Dirk;
Hulsebos, Theo;
Vandertop, W. Peter;
Frattini, Milo;
Molinari, Francesca;
Knowles, Margaret;
Cerrato, Aniello;
Rodolfo, Monica;
Scarpa, Aldo;
Felicioni, Lara;
Buttitta, Fiamma;
Malatesta, Sara;
Marchetti, Antonio;
Bardelli, Alberto

Publication type:

Article

Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 115, doi. 10.1002/humu.20816

By:

Hartmann, Anne;
Thieme, Marian;
Nanduri, Lahiri K.;
Stempfl, Thomas;
Moehle, Christoph;
Kivisild, Toomas;
Oefner, Peter J.

Publication type:

Article

MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences.

Published in:

2009

By:

Brandon, Marty C.;
Ruiz-Pesini, Eduardo;
Mishmar, Dan;
Procaccio, Vincent;
Lott, Marie T.;
Nguyen, Kevin Cuong;
Spolim, Syawal;
Patil, Upen;
Baldi, Pierre;
Wallace, Douglas C.

Publication type:

Other

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 107, doi. 10.1002/humu.20811

By:

Vreeswijk, Maaike P.G.;
Kraan, Jaennelle N.;
van der Klift, Heleen M.;
Vink, Geraldine R.;
Cornelisse, Cees J.;
Wijnen, Juul T.;
Bakker, Egbert;
van Asperen, Christi J.;
Devilee, Peter

Publication type:

Article

Continental SNPs go public: New ancestry informative markers for follow-up association studies.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. vii, doi. 10.1002/humu.20965

By:

Kwok, Pui-Yan

Publication type:

Article

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 12, doi. 10.1002/humu.20805

By:

Mitui, M.;
Nahas, S.A.;
Du, L.T.;
Yang, Z.;
Lai, C.H.;
Nakamura, K.;
Arroyo, S.;
Scott, S.;
Purayidom, A.;
Concannon, P.;
Lavin, M.;
Gatti, R.A.

Publication type:

Article

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 93, doi. 10.1002/humu.20833

By:

Ebberink, Merel S.;
Mooyer, Petra A.W.;
Koster, Janet;
Dekker, Conny J.M.;
Eyskens, François J.M.;
Dionisi-Vici, Carlo;
Clayton, Peter T.;
Barth, Peter G.;
Wanders, Ronald J.A.;
Waterham, Hans R.

Publication type:

Article

Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 79, doi. 10.1002/humu.20837

By:

Hu, Zhibin;
Liang, Jie;
Wang, Zhanwei;
Tian, Tian;
Zhou, Xiaoyi;
Chen, Jiaping;
Miao, Ruifen;
Wang, Yan;
Wang, Xinru;
Shen, Hongbing

Publication type:

Article

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 29, doi. 10.1002/humu.20808

By:

Visser, W. Edward;
Jansen, Jurgen;
Friesema, Edith C.H.;
Kester, Monique H.A.;
Mancilla, Edna;
Lundgren, Johan;
van der Knaap, Marjo S.;
Lunsing, Roelineke J.;
Brouwer, Oebele F.;
Visser, Theo J.

Publication type:

Article

Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 39, doi. 10.1002/humu.20810

By:

Makridakis, Nick M.;
Caldas Ferraz, Lúcio Fábio;
Reichardt, Juergen K.V.

Publication type:

Article

Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 69, doi. 10.1002/humu.20822

By:

Kosoy, Roman;
Nassir, Rami;
Tian, Chao;
White, Phoebe A.;
Butler, Lesley M.;
Silva, Gabriel;
Kittles, Rick;
Alarcon-Riquelme, Marta E.;
Gregersen, Peter K.;
Belmont, John W.;
De La Vega, Francisco M.;
Seldin, Michael F.

Publication type:

Article

Computational prediction of the functional effects of amino acid substitutions in signal peptides using a model-based approach.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 99, doi. 10.1002/humu.20798

By:

Hon, Lawrence S.;
Zhang, Yan;
Kaminker, Joshua S.;
Zhang, Zemin

Publication type:

Article

Steps toward restoring functional dystrophin expression.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. vii, doi. 10.1002/humu.20964

By:

Goossens, Michel

Publication type:

Article

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 61, doi. 10.1002/humu.20814

By:

Kalscheuer, Vera M.;
Musante, Luciana;
Fang, Cheng;
Hoffmann, Kirsten;
Fuchs, Celine;
Carta, Eloisa;
Deas, Emma;
Venkateswarlu, Kanamarlapudi;
Menzel, Corinna;
Ullmann, Reinhard;
Tommerup, Niels;
Dalprà, Leda;
Tzschach, Andreas;
Selicorni, Angelo;
Lüscher, Bernhard;
Ropers, Hans-Hilger;
Harvey, Kirsten;
Harvey, Robert J.

Publication type:

Article

MITOMASTER: A model for Locus-Specific Mutation Databases.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. vii, doi. 10.1002/humu.20963

By:

Cotton, Richard G.H.

Publication type:

Article

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 56, doi. 10.1002/humu.20813

By:

Mitchell, Sabrina;
Ellingson, Clint;
Coyne, Thomas;
Hall, Lynn;
Neill, Meaghan;
Christian, Natalie;
Higham, Catherine;
Dobrowolski, Steven F.;
Tuchman, Mendel;
Summar, Marshall

Publication type:

Article

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

Published in:

Human Mutation, 2009, v. 30, n. 1, p. 123, doi. 10.1002/humu.20817

By:

Caligo, Maria Adelaide;
Bonatti, Fabrizia;
Guidugli, Lucia;
Aretini, Paolo;
Galli, Alvaro

Publication type:

Article