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There are 23077 results for: content related to: A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

  1. RYR1-related myopathies: a wide spectrum of phenotypes throughout life

    European Journal of Neurology

    Volume 22, Issue 7, July 2015, Pages: 1094–1112, M. Snoeck, B. G. M. van Engelen, B. Küsters, M. Lammens, R. Meijer, J. P. F. Molenaar, J. Raaphorst, C. C. Verschuuren-Bemelmans, C. S. M. Straathof, L. T. L. Sie, I. F. de Coo, W. L. van der Pol, M. de Visser, H. Scheffer, S. Treves, H. Jungbluth, N. C. Voermans and E.-J. Kamsteeg

    Version of Record online : 11 MAY 2015, DOI: 10.1111/ene.12713

  2. You have free access to this content
    A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

    Human Mutation

    Volume 33, Issue 5, May 2012, Pages: 900–903, Noralane M. Lindor, Lucia Guidugli, Xianshu Wang, Maxime P. Vallée, Alvaro N. A. Monteiro, Sean Tavtigian, David E. Goldgar and Fergus J. Couch

    Version of Record online : 13 APR 2012, DOI: 10.1002/humu.22064

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    Influence of SLCO1B3 haplotype-tag SNPs on docetaxel disposition in Chinese nasopharyngeal cancer patients

    British Journal of Clinical Pharmacology

    Volume 73, Issue 4, April 2012, Pages: 606–618, Sin Chi Chew, Edwin Sandanaraj, Onkar Singh, Xiangai Chen, Eng Huat Tan, Wan Teck Lim, Edmund J. D. Lee and Balram Chowbay

    Version of Record online : 12 MAR 2012, DOI: 10.1111/j.1365-2125.2011.04123.x

  4. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1228–1238, Claude Houdayer, Virginie Caux-Moncoutier, Sophie Krieger, Michel Barrois, Françoise Bonnet, Violaine Bourdon, Myriam Bronner, Monique Buisson, Florence Coulet, Pascaline Gaildrat, Cédrick Lefol, Mélanie Léone, Sylvie Mazoyer, Danielle Muller, Audrey Remenieras, Françoise Révillion, Etienne Rouleau, Joanna Sokolowska, Jean-Philippe Vert, Rosette Lidereau, Florent Soubrier, Hagay Sobol, Nicolas Sevenet, Brigitte Bressac-de Paillerets, Agnès Hardouin, Mario Tosi, Olga M. Sinilnikova and Dominique Stoppa-Lyonnet

    Version of Record online : 11 MAY 2012, DOI: 10.1002/humu.22101

  5. You have full text access to this OnlineOpen article
    Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 4, July 2015, Pages: 327–345, Heleen M. van der Klift, Anne M. L. Jansen, Niki van der Steenstraten, Elsa C. Bik, Carli M. J. Tops, Peter Devilee and Juul T. Wijnen

    Version of Record online : 23 APR 2015, DOI: 10.1002/mgg3.145

  6. Somatic mutations in the notch, NF-KB, PIK3CA, and hedgehog pathways in human breast cancers

    Genes, Chromosomes and Cancer

    Volume 51, Issue 5, May 2012, Pages: 480–489, Xiang Jiao, Laura D. Wood, Monica Lindman, Sian Jones, Phillip Buckhaults, Kornelia Polyak, Saraswati Sukumar, Hannah Carter, Dewey Kim, Rachel Karchin and Tobias Sjöblom

    Version of Record online : 3 FEB 2012, DOI: 10.1002/gcc.21935

  7. Chemical Constituents of the Plants from the Genus Oplopanax

    Chemistry & Biodiversity

    Volume 11, Issue 2, February 2014, Pages: 181–196, Wei-Hua Huang, Qing-Wen Zhang, Chun-Su Yuan, Chong-Zhi Wang, Shao-Ping Li and Hong-Hao Zhou

    Version of Record online : 13 FEB 2014, DOI: 10.1002/cbdv.201200306

  8. Chemical Constituents and Biological Activities of Pinus Species

    Chemistry & Biodiversity

    Volume 10, Issue 12, December 2013, Pages: 2133–2160, Bo Li, Yun-Heng Shen, Yi-Ren He and Wei-Dong Zhang

    Version of Record online : 11 DEC 2013, DOI: 10.1002/cbdv.201100373

  9. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1747–1757, Whitney Wooderchak-Donahue, Chad VanSant-Webb, Tatiana Tvrdik, Parker Plant, Tracey Lewis, Jennifer Stocks, Joshua A. Raney, Lindsay Meyers, Alizabeth Berg, Alan F. Rope, Anji T. Yetman, Steven B. Bleyl, Rebecca Mesley, David A. Bull, R. Thomas Collins, Mayra Martinez Ojeda, Amy Roberts, Ronald Lacro, Audrey Woerner, Joan Stoler and Pinar Bayrak-Toydemir

    Version of Record online : 5 MAY 2015, DOI: 10.1002/ajmg.a.37085

  10. DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene

    Human Mutation

    Volume 32, Issue 11, November 2011, Pages: 1213–1224, Arnaud Blanchard, Vuthy Ea, Agathe Roubertie, Mélanie Martin, Coline Coquart, Mireille Claustres, Christophe Béroud and Gwenaëlle Collod-Béroud

    Version of Record online : 15 SEP 2011, DOI: 10.1002/humu.21564

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    Genetic variations in multiple myeloma I: effect on risk of multiple myeloma

    European Journal of Haematology

    Volume 88, Issue 1, January 2012, Pages: 8–30, Annette Vangsted, Tobias W. Klausen and Ulla Vogel

    Version of Record online : 17 NOV 2011, DOI: 10.1111/j.1600-0609.2011.01700.x

  12. Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan

    Clinical Genetics

    Volume 82, Issue 6, December 2012, Pages: 594–598, J Ahmad, F Le Calvez-Kelm, S Daud, C Voegele, M Vallée, A Ahmad, N Kakar, JD McKay, V Gaborieau, M Léoné, O Sinilnikova, S Sangrajrang, SV Tavtigian and F Lesueur

    Version of Record online : 8 APR 2012, DOI: 10.1111/j.1399-0004.2012.01869.x

  13. Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms

    Genes, Chromosomes and Cancer

    Volume 51, Issue 8, August 2012, Pages: 743–755, Mandy Brecqueville, Jérôme Rey, François Bertucci, Emilie Coppin, Pascal Finetti, Nadine Carbuccia, Nathalie Cervera, Véronique Gelsi-Boyer, Christine Arnoulet, Olivier Gisserot, Denis Verrot, Borhane Slama, Norbert Vey, Marie-Joelle Mozziconacci, Daniel Birnbaum and Anne Murati

    Version of Record online : 9 APR 2012, DOI: 10.1002/gcc.21960

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    A review of nitrogen isotopic alteration in marine sediments

    Paleoceanography

    Volume 27, Issue 4, December 2012, Rebecca S. Robinson, Markus Kienast, Ana Luiza Albuquerque, Mark Altabet, Sergio Contreras, Ricardo De Pol Holz, Nathalie Dubois, Roger Francois, Eric Galbraith, Ting-Chang Hsu, Tara Ivanochko, Samuel Jaccard, Shuh-Ji Kao, Thorsten Kiefer, Stephanie Kienast, Moritz Lehmann, Philippe Martinez, Matthew McCarthy, Jürgen Möbius, Tom Pedersen, Tracy M. Quan, Evgeniya Ryabenko, Andreas Schmittner, Ralph Schneider, Aya Schneider-Mor, Masahito Shigemitsu, Dan Sinclair, Christopher Somes, Anja Studer, Robert Thunell and Jin-Yu Yang

    Version of Record online : 23 OCT 2012, DOI: 10.1029/2012PA002321

  15. You have full text access to this OnlineOpen article
    Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 525–537, Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli and Tiziano Verri

    Version of Record online : 18 FEB 2013, DOI: 10.1002/humu.22269

  16. You have full text access to this OnlineOpen article
    Absence of association of a single-nucleotide polymorphism in the TERT-CLPTM1L locus with age-related phenotypes in a large multicohort study: the HALCyon programme

    Aging Cell

    Volume 10, Issue 3, June 2011, Pages: 520–532, Tamuno Alfred, Yoav Ben-Shlomo, Rachel Cooper, Rebecca Hardy, Cyrus Cooper, Ian J. Deary, Jane Elliott, David Gunnell, Sarah E. Harris, Mika Kivimaki, Meena Kumari, Richard M. Martin, Chris Power, Avan Aihie Sayer, John M. Starr, Diana Kuh, Ian N. M. Day and the HALCyon Study Team

    Version of Record online : 7 APR 2011, DOI: 10.1111/j.1474-9726.2011.00687.x

  17. You have full text access to this OnlineOpen article
    Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

    Annals of Clinical and Translational Neurology

    Volume 2, Issue 5, May 2015, Pages: 492–509, Tobias B. Haack, Christopher B. Jackson, Kei Murayama, Laura S. Kremer, André Schaller, Urania Kotzaeridou, Maaike C. de Vries, Gudrun Schottmann, Saikat Santra, Boriana Büchner, Thomas Wieland, Elisabeth Graf, Peter Freisinger, Sandra Eggimann, Akira Ohtake, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Sascha Sauer, Yasin Memari, Anja Kolb-Kokocinski, Richard Durbin, Oswald Hasselmann, Kirsten Cremer, Beate Albrecht, Dagmar Wieczorek, Hartmut Engels, Dagmar Hahn, Alexander M. Zink, Charlotte L. Alston, Robert W. Taylor, Richard J. Rodenburg, Regina Trollmann, Wolfgang Sperl, Tim M. Strom, Georg F. Hoffmann, Johannes A. Mayr, Thomas Meitinger, Ramona Bolognini, Markus Schuelke, Jean-Marc Nuoffer, Stefan Kölker, Holger Prokisch and Thomas Klopstock

    Version of Record online : 13 MAR 2015, DOI: 10.1002/acn3.189

  18. New Lignans and Their Biological Activities

    Chemistry & Biodiversity

    Volume 11, Issue 1, January 2014, Pages: 1–54, Jia Zhang, Jiejun Chen, Zizhen Liang and Changqi Zhao

    Version of Record online : 20 JAN 2014, DOI: 10.1002/cbdv.201100433

  19. Secondary Metabolites of the Genus Astragalus: Structure and Biological-Activity Update

    Chemistry & Biodiversity

    Volume 10, Issue 6, June 2013, Pages: 1004–1054, Li-Peng Yang, Jian-Gang Shen, Wen-Cheng Xu, Jin Li and Jian-Qin Jiang

    Version of Record online : 18 JUN 2013, DOI: 10.1002/cbdv.201100444

  20. Quinone Derivatives from the Genus Rubia and Their Bioactivities

    Chemistry & Biodiversity

    Volume 11, Issue 3, March 2014, Pages: 341–363, Kuo Xu, Penglong Wang, Lin Wang, Congmin Liu, Shixun Xu, Yatao Cheng, Yanhui Wang, Qiang Li and Haimin Lei

    Version of Record online : 14 MAR 2014, DOI: 10.1002/cbdv.201200173