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