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There are 10533 results for: content related to: Novel CYP 2 B 6 Enzyme Variants in a Rwandese Population: Functional Characterization and Assessment of In Silico Prediction Tools

  1. 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

  2. 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

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 341–349, Xiao-Nan Zhao and Karen Usdin

    Article first published online : 13 JAN 2014, DOI: 10.1002/humu.22495

  3. Ancient and Recent Adaptive Evolution in the Antiviral TRIM22 Gene: Identification of a Single-Nucleotide Polymorphism That Impacts TRIM22 Function

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1072–1081, Jenna N. Kelly, Matthew W. Woods, Sintia Xhiku and Stephen D. Barr

    Article first published online : 24 JUN 2014, DOI: 10.1002/humu.22595

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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

  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. 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

  8. 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

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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

  10. 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

  11. 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

  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

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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

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    Mutant TP53 Posttranslational Modifications: Challenges and Opportunities

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 738–755, Thuy-Ai Nguyen, Daniel Menendez, Michael A. Resnick and Carl W. Anderson

    Article first published online : 11 FEB 2014, DOI: 10.1002/humu.22506

  15. GATA4 Loss-of-Function Mutations Underlie Familial Tetralogy of Fallot

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1662–1671, Yi-Qing Yang, Lara Gharibeh, Ruo-Gu Li, Yuan-Feng Xin, Juan Wang, Zhong-Min Liu, Xing-Biao Qiu, Ying-Jia Xu, Lei Xu, Xin-Kai Qu, Xu Liu, Wei-Yi Fang, Ri-Tai Huang, Song Xue and Georges Nemer

    Article first published online : 17 SEP 2013, DOI: 10.1002/humu.22434

  16. 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

  17. 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

  18. 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

  19. The UBIAD1 Prenyltransferase Links Menaquione-4 Synthesis to Cholesterol Metabolic Enzymes

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 317–329, Michael L. Nickerson, Allen D. Bosley, Jayne S. Weiss, Brittany N. Kostiha, Yoshihisa Hirota, Wolfgang Brandt, Dominic Esposito, Shigeru Kinoshita, Ludger Wessjohann, Scott G. Morham, Thorkell Andresson, Howard S. Kruth, Toshio Okano and Michael Dean

    Article first published online : 27 NOV 2012, DOI: 10.1002/humu.22230

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    Erratum: The UBIAD1 Prenyltransferase Links Menaquinone-4 Synthesis to Cholesterol Metabolic Enzymes

    Vol. 34, Issue 7, 1046, Article first published online: 30 APR 2013

  20. Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 669–685, Kevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, Sarah E. Flanagan and Sian Ellard

    Article first published online : 2 APR 2013, DOI: 10.1002/humu.22279