Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 4

Results: 22

Audio Gene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 539, doi. 10.1002/humu.22268

By:

Taylor, Kyle R.;
DeLuca, Adam P.;
Shearer, A. Eliot;
Hildebrand, Michael S.;
Black‐Ziegelbein, E. Ann;
Anand, V. Nikhil;
Sloan, Christina M.;
Eppsteiner, Robert W.;
Scheetz, Todd E.;
Huygen, Patrick L. M.;
Smith, Richard J. H.;
Braun, Terry A.;
Casavant, Thomas L.

Publication type:

Article

Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 587, doi. 10.1002/humu.22275

By:

Bornholdt, Dorothea;
Atkinson, T. Prescott;
Bouadjar, Bakar;
Catteau, Benoit;
Cox, Helen;
Silva, Deepthi;
Fischer, Judith;
Gunasekera, Chalukya N.;
Hadj‐Rabia, Smaïl;
Happle, Rudolf;
Holder‐Espinasse, Muriel;
Kaminski, Elke;
König, Arne;
Mégarbané, André;
Mégarbané, Hala;
Neidel, Ulrike;
Oeffner, Frank;
Oji, Vinzenz;
Theos, Amy;
Traupe, Heiko

Publication type:

Article

Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 655, doi. 10.1002/humu.22286

By:

Chen, Yi‐Chen;
Chien, Yin‐Hsiu;
Chen, Pin‐Wen;
Leung‐Sang Tang, Nelson;
Chiu, Pao‐Chin;
Hwu, Wuh‐Liang;
Lee, Ni‐Chung

Publication type:

Article

In Silico Interpretation of the Splicing Code and Estimating the Abundance of Expressed mRNA Isoforms.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. v, doi. 10.1002/humu.22183

By:

Yu, Bing

Publication type:

Article

Genome-Wide Allelic Methylation Analysis Reveals Disease-Specific Susceptibility to Multiple Methylation Defects in Imprinting Syndromes.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 595, doi. 10.1002/humu.22276

By:

Court, Franck;
Martin‐Trujillo, Alex;
Romanelli, Valeria;
Garin, Intza;
Iglesias‐Platas, Isabel;
Salafsky, Ira;
Guitart, Miriam;
Perez de Nanclares, Guiomar;
Lapunzina, Pablo;
Monk, David

Publication type:

Article

Making Sense of Intratumor Genetic Heterogeneity: Altered Frequency of Androgen Receptor CAG Repeat Length Variants in Breast Cancer Tissues.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 610, doi. 10.1002/humu.22287

By:

Gottlieb, Bruce;
Alvarado, Carlos;
Wang, Chunlin;
Gharizadeh, Baback;
Babrzadeh, Farbod;
Richards, Brent;
Batist, Gerald;
Basik, Mark;
Beitel, Lenore K.;
Trifiro, Mark

Publication type:

Article

HGV2012: Leveraging Next-Generation Technology and Large Datasets to Advance Disease Research.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 657, doi. 10.1002/humu.22270

By:

Gonzaludo, Nina;
Zheng, Hong‐Xiang;
Wang, Jiucun;
Chanock, Stephen J.;
Jin, Li;
Scherer, Stephen;
Wijmenga, Cisca;
Kwok, Pui‐Yan;
Brookes, Anthony J.

Publication type:

Article

A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 578, doi. 10.1002/humu.22271

By:

Farooq, Muhammad;
Kurban, Mazen;
Fujimoto, Atsushi;
Fujikawa, Hiroki;
Abbas, Ossama;
Nemer, Georges;
Saliba, Jessica;
Sleiman, Rima;
Tofaili, Mona;
Kibbi, Abdul‐Ghani;
Ito, Masaaki;
Shimomura, Yutaka

Publication type:

Article

Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 572, doi. 10.1002/humu.22282

By:

Klar, Joakim;
Sobol, Maria;
Melberg, Atle;
Mäbert, Katrin;
Ameur, Adam;
Johansson, Anna C.V.;
Feuk, Lars;
Entesarian, Miriam;
Örlén, Hanna;
Casar‐Borota, Olivera;
Dahl, Niklas

Publication type:

Article

Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 661, doi. 10.1002/humu.22293

By:

Oetting, William S.;
Robinson, Peter N.;
Greenblatt, Marc S.;
Cotton, Richard G.;
Beck, Tim;
Carey, John C.;
Doelken, Sandra C.;
Girdea, Marta;
Groza, Tudor;
Hamilton, Carol M.;
Hamosh, Ada;
Kerner, Berit;
MacArthur, Jacqueline A. L.;
Maglott, Donna R.;
Mons, Barend;
Rehm, Heidi L.;
Schofield, Paul N.;
Searle, Beverly A.;
Smedley, Damian;
Smith, Cynthia L.

Publication type:

Article

Genotyping by Induced Förster Resonance Energy Transfer (i FRET) Mechanism and Simultaneous Mutation Scanning.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 636, doi. 10.1002/humu.22281

By:

Masojć, Bartłomiej;
Górski, Bohdan;
van de Wetering, Thierry;
Dębniak, Tadeusz;
Cybulski, Cezary;
Jakubowska, Anna;
Mędrek, Krzysztof;
Rudnicka, Helena;
Dwight, Zachary Lawrence;
Lubiński, Jan

Publication type:

Article

A Deletion Mutation in TMEM38 B Associated with Autosomal Recessive Osteogenesis Imperfecta.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 582, doi. 10.1002/humu.22274

By:

Volodarsky, Michael;
Markus, Barak;
Cohen, Idan;
Staretz‐Chacham, Orna;
Flusser, Hagit;
Landau, Daniella;
Shelef, Ilan;
Langer, Yshaia;
Birk, Ohad S.

Publication type:

Article

Response to Chen et al.: Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 656, doi. 10.1002/humu.22285

By:

Pasquali, Marzia;
Longo, Nicola

Publication type:

Article

Novel Germline GJA5/Connexin40 Mutations Associated with Lone Atrial Fibrillation Impair Gap Junctional Intercellular Communication.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 603, doi. 10.1002/humu.22278

By:

Sun, Yiguo;
Yang, Yi‐Qing;
Gong, Xiang‐Qun;
Wang, Xin‐Hua;
Li, Ruo‐Gu;
Tan, Hong‐Wei;
Liu, Xu;
Fang, Wei‐Yi;
Bai, Donglin

Publication type:

Article

From Phenotype to Genotype: A New Twist on Identifying Genes Responsible for Inherited Hearing Loss.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. v, doi. 10.1002/humu.22182

By:

Mooney, Sean

Publication type:

Article

DIP- STR: Highly Sensitive Markers for the Analysis of Unbalanced Genomic Mixtures.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 644, doi. 10.1002/humu.22280

By:

Castella, Vincent;
Gervaix, Joëlle;
Hall, Diana

Publication type:

Article

RNAsnp: Efficient Detection of Local RNA Secondary Structure Changes Induced by SNPs.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 546, doi. 10.1002/humu.22273

By:

Sabarinathan, Radhakrishnan;
Tafer, Hakim;
Seemann, Stefan E.;
Hofacker, Ivo L.;
Stadler, Peter F.;
Gorodkin, Jan

Publication type:

Article

Heterozygous Genetic Variations of FOXP3 in Xp11.23 Elevate Breast Cancer Risk in Chinese Population via Skewed X-Chromosome Inactivation.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 619, doi. 10.1002/humu.22284

By:

Zheng, Jian;
Deng, Jieqiong;
Jiang, Lan;
Yang, Lei;
You, Yonghe;
Hu, Min;
Li, Na;
Wu, Hongchun;
Li, Wei;
Li, Hongbin;
Lu, Jiachun;
Zhou, Yifeng

Publication type:

Article

Prediction of Mutant m RNA Splice Isoforms by Information Theory-Based Exon Definition.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 557, doi. 10.1002/humu.22277

By:

Mucaki, Eliseos J.;
Shirley, Ben C.;
Rogan, Peter K.

Publication type:

Article

Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 667, doi. 10.1002/humu.22290

By:

Lynch, Danielle C.;
Dyment, David A.;
Huang, Lijia;
Nikkel, Sarah M.;
Lacombe, Didier;
Campeau, Philippe M.;
Lee, Brendan;
Bacino, Carlos A.;
Michaud, Jacques L.;
Bernier, Francois P.;
Consortium, FORGE Canada;
Parboosingh, Jillian S.;
Innes, A. Micheil

Publication type:

Article

Nonoptical Massive Parallel DNA Sequencing of BRCA1 and BRCA2 Genes in a Diagnostic Setting.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 629, doi. 10.1002/humu.22272

By:

Costa, José Luis;
Sousa, Sónia;
Justino, Ana;
Kay, Teresa;
Fernandes, Susana;
Cirnes, Luis;
Schmitt, Fernando;
Machado, José Carlos

Publication type:

Article

Pheno DB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 566, doi. 10.1002/humu.22283

By:

Hamosh, Ada;
Sobreira, Nara;
Hoover‐Fong, Julie;
Sutton, V. Reid;
Boehm, Corinne;
Schiettecatte, François;
Valle, David

Publication type:

Article