Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 3

Results: 19

DIAMUND: Direct Comparison of Genomes to Detect Mutations.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 283, doi. 10.1002/humu.22503

By:

Salzberg, Steven L.;
Pertea, Mihaela;
Fahrner, Jill A.;
Sobreira, Nara

Publication type:

Article

Novel Dynein DYNC1 H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 298, doi. 10.1002/humu.22491

By:

Fiorillo, Chiara;
Moro, Francesca;
Yi, Julie;
Weil, Sarah;
Brisca, Giacomo;
Astrea, Guja;
Severino, Mariasavina;
Romano, Alessandro;
Battini, Roberta;
Rossi, Andrea;
Minetti, Carlo;
Bruno, Claudio;
Santorelli, Filippo M.;
Vallee, Richard

Publication type:

Article

ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High-Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next-Generation Sequencing.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 271, doi. 10.1002/humu.22484

By:

Lopez‐Doriga, Adriana;
Feliubadaló, Lídia;
Menéndez, Mireia;
Lopez‐Doriga, Sergio;
Morón‐Duran, Francisco D.;
del Valle, Jesús;
Tornero, Eva;
Montes, Eva;
Cuesta, Raquel;
Campos, Olga;
Gómez, Carolina;
Pineda, Marta;
González, Sara;
Moreno, Victor;
Capellá, Gabriel;
Lázaro, Conxi

Publication type:

Article

Gender and Cell-Type-Specific Effects of the Transcription-Coupled Repair Protein, ERCC6/ CSB, on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 341, doi. 10.1002/humu.22495

By:

Zhao, Xiao‐Nan;
Usdin, Karen

Publication type:

Article

Enhanced Sensitivity for Detection of Low-Level Germline Mosaic RB1 Mutations in Sporadic Retinoblastoma Cases Using Deep Semiconductor Sequencing.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 384, doi. 10.1002/humu.22488

By:

Chen, Zhao;
Moran, Kimberly;
Richards‐Yutz, Jennifer;
Toorens, Erik;
Gerhart, Daniel;
Ganguly, Tapan;
Shields, Carol L.;
Ganguly, Arupa

Publication type:

Article

An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 303, doi. 10.1002/humu.22499

By:

Lecerf, Laure;
Kavo, Anthula;
Ruiz‐Ferrer, Macarena;
Baral, Viviane;
Watanabe, Yuli;
Chaoui, Asma;
Pingault, Veronique;
Borrego, Salud;
Bondurand, Nadege

Publication type:

Article

Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of Glc NAc-1-Phosphotransferase Precursor Protein ( GNPTAB).

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 368, doi. 10.1002/humu.22502

By:

Pace, Raffaella;
Coutinho, Maria Francisca;
Koch‐Nolte, Friedrich;
Haag, Friedrich;
Prata, Maria João;
Alves, Sandra;
Braulke, Thomas;
Pohl, Sandra

Publication type:

Article

Disease-causing Enhancer Variants: A Question of Penetrance.

Published in:

2014

By:

Ottolenghi, Sergio

Publication type:

Other

Heterozygote PCR Product Melting Curve Prediction.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 278, doi. 10.1002/humu.22494

By:

Dwight, Zachary L.;
Palais, Robert;
Kent, Jana;
Wittwer, Carl T.

Publication type:

Article

Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 350, doi. 10.1002/humu.22498

By:

Belet, Stefanie;
Fieremans, Nathalie;
Yuan, Xuan;
Esch, Hilde;
Verbeeck, Jelle;
Ye, Zhaohui;
Cheng, Linzhao;
Brodsky, Brett R.;
Hu, Hao;
Kalscheuer, Vera M.;
Brodsky, Robert A.;
Froyen, Guy

Publication type:

Article

Contents.

Published in:: 2014
Publication type:: Other

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 289, doi. 10.1002/humu.22482

By:

Borman, Arundhati Dev;
Pearce, Laura R.;
Mackay, Donna S.;
Nagel‐Wolfrum, Kerstin;
Davidson, Alice E.;
Henderson, Robert;
Garg, Sumedha;
Waseem, Naushin H.;
Webster, Andrew R.;
Plagnol, Vincent;
Wolfrum, Uwe;
Farooqi, I. Sadaf;
Moore, Anthony T.

Publication type:

Article

Activating Mutations Cluster in the 'Molecular Brake' Regions of Protein Kinases and Do Not Associate with Conserved or Catalytic Residues.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 318, doi. 10.1002/humu.22493

By:

Molina‐Vila, Miguel A.;
Nabau‐Moretó, Nuria;
Tornador, Cristian;
Sabnis, Amit J.;
Rosell, Rafael;
Estivill, Xavier;
Bivona, Trever G.;
Marino‐Buslje, Cristina

Publication type:

Article

Increased Dosage of RAB39 B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 377, doi. 10.1002/humu.22497

By:

Vanmarsenille, Lieselot;
Giannandrea, Maila;
Fieremans, Nathalie;
Verbeeck, Jelle;
Belet, Stefanie;
Raynaud, Martine;
Vogels, Annick;
Männik, Katrin;
Õunap, Katrin;
Jacqueline, Vigneron;
Briault, Sylvain;
Esch, Hilde;
D'Adamo, Patrizia;
Froyen, Guy

Publication type:

Article

A New and More Accurate Estimate of the Rate of Concurrent Tandem-Base Substitution Mutations in the Human Germline: ∼0.4% of the Single-Nucleotide Substitution Mutation Rate.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 392, doi. 10.1002/humu.22501

By:

Chen, Jian‐Min;
Cooper, David N.;
Férec, Claude

Publication type:

Article

Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1 A.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 356, doi. 10.1002/humu.22500

By:

Soldovieri, Maria Virginia;
Boutry‐Kryza, Nadia;
Milh, Mathieu;
Doummar, Diane;
Heron, Benedicte;
Bourel, Emilie;
Ambrosino, Paolo;
Miceli, Francesco;
Maria, Michela;
Dorison, Nathalie;
Auvin, Stephane;
Echenne, Bernard;
Oertel, Julie;
Riquet, Audrey;
Lambert, Laetitia;
Gerard, Marion;
Roubergue, Anne;
Calender, Alain;
Mignot, Cyril;
Taglialatela, Maurizio

Publication type:

Article

Retinitis Pigmentosa Mutations of SNRNP200 Enhance Cryptic Splice-Site Recognition.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 308, doi. 10.1002/humu.22481

By:

Cvačková, Zuzana;
Matějů, Daniel;
Staněk, David

Publication type:

Article

Tumor Heterogeneity Revealed by KRAS, BRAF, and PIK3 CA Pyrosequencing: KRAS and PIK3 CA Intratumor Mutation Profile Differences and Their Therapeutic Implications.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 329, doi. 10.1002/humu.22496

By:

Kosmidou, Vivian;
Oikonomou, Eftychia;
Vlassi, Margarita;
Avlonitis, Spyros;
Katseli, Anastasia;
Tsipras, Iraklis;
Mourtzoukou, Despina;
Kontogeorgos, Georgios;
Zografos, Georgios;
Pintzas, Alexander

Publication type:

Article

Germline Mutations of Inhibins in Early-Onset Ovarian Epithelial Tumors.

Published in:

Human Mutation, 2014, v. 35, n. 3, p. 294, doi. 10.1002/humu.22489

By:

Tournier, Isabelle;
Marlin, Régine;
Walton, Kelly;
Charbonnier, Françoise;
Coutant, Sophie;
Théry, Jean‐Christophe;
Charbonnier, Camille;
Spurrell, Cailyn;
Vezain, Myriam;
Ippolito, Lorena;
Bougeard, Gaëlle;
Roman, Horace;
Tinat, Julie;
Sabourin, Jean‐Christophe;
Stoppa‐Lyonnet, Dominique;
Caron, Olivier;
Bressac‐de Paillerets, Brigitte;
Vaur, Dominique;
King, Mary‐Claire;
Harrison, Craig

Publication type:

Article