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There are 23795 results for: content related to: W elander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing

  1. Characterization of SLC26A9 in Patients with CF-Like Lung Disease

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1404–1414, Naziha Bakouh, Thierry Bienvenu, Annick Thomas, Jordi Ehrenfeld, Huguette Liote, Delphine Roussel, Philippe Duquesnoy, Nicolette Farman, Marion Viel, Baya Cherif-Zahar, Serge Amselem, Rola Abou Taam, Aleksander Edelman, Gabrielle Planelles and Isabelle Sermet-Gaudelus

    Article first published online : 13 AUG 2013, DOI: 10.1002/humu.22382

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    TP53 Mutations in Human Cancer: Database Reassessment and Prospects for the Next Decade

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 672–688, Bernard Leroy, Martha Anderson and Thierry Soussi

    Article first published online : 20 MAY 2014, DOI: 10.1002/humu.22552

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    Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 766–778, Thierry Soussi, Bernard Leroy and Peter E.M. Taschner

    Article first published online : 6 MAY 2014, DOI: 10.1002/humu.22561

  4. RASopathy-Associated CBL Germline Mutations Cause Aberrant Ubiquitylation and Trafficking of EGFR

    Human Mutation

    Volume 35, Issue 11, November 2014, Pages: 1372–1381, Kristina Brand, Hendrik Kentsch, Christina Glashoff and Georg Rosenberger

    Article first published online : 28 OCT 2014, DOI: 10.1002/humu.22682

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    Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1119–1130, Jian-Min Chen, Claude Férec and David N. Cooper

    Article first published online : 20 MAY 2013, DOI: 10.1002/humu.22341

  6. Prediction of the Repeat Domain Structures and Impact of Parkinsonism-Associated Variations on Structure and Function of all Functional Domains of Leucine-Rich Repeat Kinase 2 (LRRK2)

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 395–412, Ryan D. Mills, Terrence D. Mulhern, Fei Liu, Janetta G. Culvenor and Heung-Chin Cheng

    Article first published online : 24 FEB 2014, DOI: 10.1002/humu.22515

  7. Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1250–1259, Xiaohui Tan, Sarah L. Anzick, Sikandar G. Khan, Takahiro Ueda, Gary Stone, John J. DiGiovanna, Deborah Tamura, Daniel Wattendorf, David Busch, Carmen C. Brewer, Christopher Zalewski, John A. Butman, Andrew J. Griffith, Paul S. Meltzer and Kenneth H. Kraemer

    Article first published online : 3 JUN 2013, DOI: 10.1002/humu.22354

  8. Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 998–1010, Weihua Zeng, Yen-Yun Chen, Daniel A. Newkirk, Beibei Wu, Judit Balog, Xiangduo Kong, Alexander R. Ball Jr., Simona Zanotti, Rabi Tawil, Naohiro Hashimoto, Ali Mortazavi, Silvère M. van der Maarel and Kyoko Yokomori

    Article first published online : 24 JUN 2014, DOI: 10.1002/humu.22593

  9. Somatic Alterations Contributing to Metastasis of a Castration-Resistant Prostate Cancer

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1231–1241, Michael L. Nickerson, Kate M. Im, Kevin J. Misner, Wei Tan, Hong Lou, Bert Gold, David W. Wells, Hector C. Bravo, Karin M. Fredrikson, Timothy T. Harkins, Patrice Milos, Berton Zbar, W. Marston Linehan, Meredith Yeager, Thorkell Andresson, Michael Dean and G. Steven Bova

    Article first published online : 3 JUN 2013, DOI: 10.1002/humu.22346

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    Mitochondrial DNA Rearrangements in Health and Disease—A Comprehensive Study

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 1–14, Joana Damas, David C. Samuels, João Carneiro, António Amorim and Filipe Pereira

    Article first published online : 18 OCT 2013, DOI: 10.1002/humu.22452

  11. Corneal Dystrophy-Causing SLC4A11 Mutants: Suitability for Folding-Correction Therapy

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1082–1091, Sampath K. Loganathan and Joseph R. Casey

    Article first published online : 28 JUN 2014, DOI: 10.1002/humu.22601

  12. RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 986–996, Haiyan Zhou, Ori Rokach, Lucy Feng, Iulia Munteanu, Kamel Mamchaoui, Jo M. Wilmshurst, Caroline Sewry, Adnan Y. Manzur, Komala Pillay, Vincent Mouly, Michael Duchen, Heinz Jungbluth, Susan Treves and Francesco Muntoni

    Article first published online : 17 APR 2013, DOI: 10.1002/humu.22326

  13. Genetic Screening and Functional Characterization of PDGFRB Mutations Associated with Basal Ganglia Calcification of Unknown Etiology

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 964–971, Monica Sanchez-Contreras, Matthew C. Baker, NiCole A. Finch, Alexandra Nicholson, Aleksandra Wojtas, Zbigniew K. Wszolek, Owen A. Ross, Dennis W. Dickson and Rosa Rademakers

    Article first published online : 3 JUN 2014, DOI: 10.1002/humu.22582

  14. Inverted Low-Copy Repeats and Genome Instability—A Genome-Wide Analysis

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 210–220, Piotr Dittwald, Tomasz Gambin, Claudia Gonzaga-Jauregui, Claudia M.B. Carvalho, James R. Lupski, Paweł Stankiewicz and Anna Gambin

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22217

  15. Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 868–879, Phillipa J. Lamont, William Wallefeld, David Hilton-Jones, Bjarne Udd, Zohar Argov, Alexandru C. Barboi, Carsten Bonneman, Kym M. Boycott, Kate Bushby, Anne M. Connolly, Nicholas Davies, Alan H. Beggs, Gerald F. Cox, Jahannaz Dastgir, Elizabeth T. DeChene, Rebecca Gooding, Heinz Jungbluth, Nuria Muelas, Johanna Palmio, Sini Penttilä, Eric Schmedding, Tiina Suominen, Volker Straub, Christopher Staples, Peter Y.K. Van den Bergh, Juan J. Vilchez, Kathryn R. Wagner, Patricia G. Wheeler, Elizabeth Wraige and Nigel G. Laing

    Article first published online : 21 MAY 2014, DOI: 10.1002/humu.22553

  16. 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

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 215–226, Kathrin Bengesser, Julia Vogt, Tanja Mussotter, Victor-Felix Mautner, Ludwine Messiaen, David N. Cooper and Hildegard Kehrer-Sawatzki

    Article first published online : 2 DEC 2013, DOI: 10.1002/humu.22473

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    UBE2QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1650–1661, Naomi C. Wake, Christopher J. Ricketts, Mark R. Morris, Elena Prigmore, Susan M. Gribble, Anne-Bine Skytte, Michael Brown, Noel Clarke, Rosamonde E. Banks, Shirley Hodgson, Andrew S. Turnell, Eamonn R. Maher and Emma R. Woodward

    Article first published online : 7 OCT 2013, DOI: 10.1002/humu.22433

  18. MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation

    Human Mutation

    Diana Zahnleiter, Nadine N. Hauer, Kristin Kessler, Steffen Uebe, Yuya Sugano, Stephan C.F. Neuhauss, Andreas Giessl, Arif B. Ekici, Holger Blessing, Heinrich Sticht, Helmuth-Günther Dörr, André Reis and Christian T. Thiel

    Article first published online : 28 NOV 2014, DOI: 10.1002/humu.22711

  19. In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1387–1395, Lorea Blázquez, Ana Aiastui, Maria Goicoechea, Mafalda Martins de Araujo, Aurélie Avril, Cyriaque Beley, Luis García, Juan Valcárcel, Puri Fortes and Adolfo López de Munain

    Article first published online : 7 AUG 2013, DOI: 10.1002/humu.22379

  20. CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 828–840, Maria Chiara Scaini, Giovanni Minervini, Lisa Elefanti, Paola Ghiorzo, Lorenza Pastorino, Silvia Tognazzo, Simona Agata, Monica Quaggio, Daniela Zullato, Giovanna Bianchi-Scarrà, Marco Montagna, Emma D'Andrea, Chiara Menin and Silvio C.E. Tosatto

    Article first published online : 21 MAY 2014, DOI: 10.1002/humu.22550