Search Results

There are 24676 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

  2. You have free access to this content
    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

  3. You have free access to this content
    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

  5. You have free access to this content
    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. You have full text access to this OnlineOpen article
    DIP–STR: Highly Sensitive Markers for the Analysis of Unbalanced Genomic Mixtures

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 644–654, Vincent Castella, Joëlle Gervaix and Diana Hall

    Article first published online : 5 MAR 2013, DOI: 10.1002/humu.22280

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

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 619–628, Jian Zheng, Jieqiong Deng, Lan Jiang, Lei Yang, Yonghe You, Min Hu, Na Li, Hongchun Wu, Wei Li, Hongbin Li, Jiachun Lu and Yifeng Zhou

    Article first published online : 8 MAR 2013, DOI: 10.1002/humu.22284

  15. 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

  16. You have full text access to this OnlineOpen article
    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

  17. You have free access to this content
    MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 87–97, 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

  18. 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

  19. 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

  20. EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 894–904, Paola Monti, Debora Russo, Renata Bocciardi, Giorgia Foggetti, Paola Menichini, Maria T. Divizia, Margherita Lerone, Claudio Graziano, Anita Wischmeijer, Hector Viadiu, Roberto Ravazzolo, Alberto Inga and Gilberto Fronza

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22304