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

Results: 21

Accepted article preprints, 'In This Issue' featured papers, and updated design for Human Mutation in 2009.
Published in:
2009
Publication type:
Other
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
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
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
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
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
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
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
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
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
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
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
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
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