Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 2

Results: 16

Distinct Patterns of Genetic Variations in Potential Functional Elements in Long Noncoding RNAs.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 192, doi. 10.1002/humu.22472

By:

Bhartiya, Deeksha;
Jalali, Saakshi;
Ghosh, Sourav;
Scaria, Vinod

Publication type:

Article

Insight into IKBKG/ NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 165, doi. 10.1002/humu.22483

By:

Conte, Matilde Immacolata;
Pescatore, Alessandra;
Paciolla, Mariateresa;
Esposito, Elio;
Miano, Maria Giuseppina;
Lioi, Maria Brigida;
McAleer, Maeve A.;
Giardino, Giuliana;
Pignata, Claudio;
Irvine, Alan D.;
Scheuerle, Angela E.;
Royer, Ghislaine;
Hadj‐Rabia, Smail;
Bodemer, Christine;
Bonnefont, Jean‐Paul;
Munnich, Arnold;
Smahi, Asma;
Steffann, Julie;
Fusco, Francesca;
Ursini, Matilde Valeria

Publication type:

Article

MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 236, doi. 10.1002/humu.22476

By:

Pecci, Alessandro;
Klersy, Catherine;
Gresele, Paolo;
Lee, Kieran J.D.;
De Rocco, Daniela;
Bozzi, Valeria;
Russo, Giovanna;
Heller, Paula G.;
Loffredo, Giuseppe;
Ballmaier, Matthias;
Fabris, Fabrizio;
Beggiato, Eloise;
Kahr, Walter H.A.;
Pujol‐Moix, Nuria;
Platokouki, Helen;
Van Geet, Christel;
Noris, Patrizia;
Yerram, Preethi;
Hermans, Cedric;
Gerber, Bernhard

Publication type:

Article

Targeted Knock-in of the Polymorphism rs61764370 Does Not Affect KRAS Expression but Reduces let-7 Levels.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 208, doi. 10.1002/humu.22487

By:

Crowley, Emily Hannah;
Arena, Sabrina;
Lamba, Simona;
Di Nicolantonio, Federica;
Bardelli, Alberto

Publication type:

Article

A 129-kb Deletion on Chromosome 12 Confers Substantial Protection Against Rheumatoid Arthritis, Implicating the Gene SLC2 A3.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 248, doi. 10.1002/humu.22471

By:

Veal, Colin D.;
Reekie, Katherine E.;
Lorentzen, Johnny C.;
Gregersen, Peter K.;
Padyukov, Leonid;
Brookes, Anthony J.

Publication type:

Article

A Short-Read Multiplex Sequencing Method for Reliable, Cost-Effective and High-Throughput Genotyping in Large-Scale Studies.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 270, doi. 10.1002/humu.22486

By:

Cao, Hongzhi;
Wang, Yu;
Zhang, Wei;
Chai, Xianghua;
Zhang, Xiandong;
Chen, Shiping;
Yang, Fan;
Zhang, Caifen;
Guo, Yulai;
Liu, Ying;
Tang, Zhoubiao;
Chen, Caifen;
Xue, Yaxin;
Zhen, Hefu;
Xu, Yinyin;
Rao, Bin;
Liu, Tao;
Zhao, Meiru;
Zhang, Wenwei;
Li, Yingrui

Publication type:

Article

Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 151, doi. 10.1002/humu.22478

By:

Guidugli, Lucia;
Carreira, Aura;
Caputo, Sandrine M.;
Ehlen, Asa;
Galli, Alvaro;
Monteiro, Alvaro N.A.;
Neuhausen, Susan L.;
Hansen, Thomas V.O.;
Couch, Fergus J.;
Vreeswijk, Maaike P.G.

Publication type:

Article

Discovery and Functional Assessment of Gene Variants in the Vascular Endothelial Growth Factor Pathway.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 227, doi. 10.1002/humu.22475

By:

Paré‐Brunet, Laia;
Glubb, Dylan;
Evans, Patrick;
Berenguer‐Llergo, Antoni;
Etheridge, Amy S.;
Skol, Andrew D.;
Rienzo, Anna;
Duan, Shiwei;
Gamazon, Eric R.;
Innocenti, Federico

Publication type:

Article

Seeing the Wood for the Trees: A Minimal Reference Phylogeny for the Human Y Chromosome.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 187, doi. 10.1002/humu.22468

By:

Oven, Mannis;
Geystelen, Anneleen;
Kayser, Manfred;
Decorte, Ronny;
Larmuseau, Maarten HD

Publication type:

Article

The ZZ Domain of Dystrophin in DMD: Making Sense of Missense Mutations.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 257, doi. 10.1002/humu.22479

By:

Vulin, Adeline;
Wein, Nicolas;
Strandjord, Dana M.;
Johnson, Eric K.;
Findlay, Andrew R.;
Maiti, Baijayanta;
Howard, Michael T.;
Kaminoh, Yuuki J.;
Taylor, Laura E.;
Simmons, Tabatha R.;
Ray, Will C.;
Montanaro, Federica;
Ervasti, Jim M.;
Flanigan, Kevin M.

Publication type:

Article

Variobox: Automatic Detection and Annotation of Human Genetic Variants.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 202, doi. 10.1002/humu.22474

By:

Gaspar, Paulo;
Lopes, Pedro;
Oliveira, Jorge;
Santos, Rosário;
Dalgleish, Raymond;
Oliveira, José Luís

Publication type:

Article

NPHS2 Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 178, doi. 10.1002/humu.22485

By:

Bouchireb, Karim;
Boyer, Olivia;
Gribouval, Olivier;
Nevo, Fabien;
Huynh‐Cong, Evelyne;
Morinière, Vincent;
Campait, Raphaëlle;
Ars, Elisabet;
Brackman, Damien;
Dantal, Jacques;
Eckart, Philippe;
Gigante, Maddalena;
Lipska, Beata S.;
Liutkus, Aurélia;
Megarbane, André;
Mohsin, Nabil;
Ozaltin, Fatih;
Saleem, Moin A.;
Schaefer, Franz;
Soulami, Kenza

Publication type:

Article

Contents.

Published in:: Human Mutation, 2014, v. 35, n. 2, p. i, doi. 10.1002/humu.22510
Publication type:: Article

Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 215, doi. 10.1002/humu.22473

By:

Bengesser, Kathrin;
Vogt, Julia;
Mussotter, Tanja;
Mautner, Victor‐Felix;
Messiaen, Ludwine;
Cooper, David N.;
Kehrer‐Sawatzki, Hildegard

Publication type:

Article

Lake Louise Mutation Detection Meeting 2013: Clinical Translation of Next-Generation Sequencing Requires Optimization of Workflows and Interpretation of Variants.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. 265, doi. 10.1002/humu.22480

By:

Smith, Amanda;
Boycott, Kym M.;
Jarinova, Olga

Publication type:

Article

Human Cell Line Model for Cancer-Associated KRAS Noncoding SNP.

Published in:

Human Mutation, 2014, v. 35, n. 2, p. v, doi. 10.1002/humu.22404

By:

Lauring, Josh

Publication type:

Article