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There are 11817 results for: content related to: Making Sense of Unclassified Missense Substitutions in MMR Genes

  1. Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1477–1480, Mark Drost, Hester Koppejan and Niels de Wind

    Article first published online : 11 SEP 2013, DOI: 10.1002/humu.22426

  2. A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 200–209, Bryony A. Thompson, David E. Goldgar, Carol Paterson, Mark Clendenning, Rhiannon Walters, Sven Arnold, Michael T. Parsons, Walsh Michael D., Steven Gallinger, Robert W. Haile, John L. Hopper, Mark A. Jenkins, Loic LeMarchand, Noralane M. Lindor, Polly A. Newcomb, Stephen N. Thibodeau, Colon Cancer Family Registry, Joanne P. Young, Daniel D. Buchanan, Sean V. Tavtigian and Amanda B. Spurdle

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22213

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    Whole Exome Sequencing as a Tool for Autozygosity Mapping

    Human Mutation

    Volume 34, Issue 1, January 2013, Page: vii, Samia Layouni

    Article first published online : 20 DEC 2012, DOI: 10.1002/humu.22179

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    General Olfactory Sensitivity Data-base: A Unique Knowledgebase for the least Explored of our Major Senses

    Human Mutation

    Volume 34, Issue 1, January 2013, Page: vii, Niels Tommerup

    Article first published online : 20 DEC 2012, DOI: 10.1002/humu.22178

  5. Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 255–265, Bryony A. Thompson, Marc S. Greenblatt, Maxime P. Vallee, Johanna C. Herkert, Chloe Tessereau, Erin L. Young, Ivan A. Adzhubey, Biao Li, Russell Bell, Bingjian Feng, Sean D. Mooney, Predrag Radivojac, Shamil R. Sunyaev, Thierry Frebourg, Robert M.W. Hofstra, Rolf H. Sijmons, Ken Boucher, Alun Thomas, David E. Goldgar, Amanda B. Spurdle and Sean V. Tavtigian

    Article first published online : 22 OCT 2012, DOI: 10.1002/humu.22214

  6. Autozygosity Mapping with Exome Sequence Data

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 50–56, Ian M. Carr, Sanjeev Bhaskar, James O’ Sullivan, Mohammed A. Aldahmesh, Hanan E. Shamseldin, Alexander F. Markham, David T. Bonthron, Graeme Black and Fowzan S. Alkuraya

    Article first published online : 22 OCT 2012, DOI: 10.1002/humu.22220

  7. Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes

    Human Mutation

    Volume 28, Issue 11, November 2007, Pages: 1047–1054, Jianghua Ou, Renée C. Niessen, Anne Lützen, Rolf H. Sijmons, Jan. H. Kleibeuker, Niels de Wind, Lene Juel Rasmussen and Robert M.W. Hofstra

    Article first published online : 26 JUN 2007, DOI: 10.1002/humu.20580

  8. Somatic MMR Gene Mutations as a Cause for MSI-H Sebaceous Neoplasms in Muir–Torre Syndrome-Like Patients

    Human Mutation

    Volume 36, Issue 3, March 2015, Pages: 292–295, Marie-Odile Joly, Valéry Attignon, Jean-Christophe Saurin, Françoise Desseigne, Dominique Leroux, Tanguy Martin-Denavit, Sophie Giraud, Marie-Noëlle Bonnet-Dupeyron, Laurence Faivre, Jessie Auclair, Chloé Grand-Masson, Carole Audoynaud and Qing Wang

    Article first published online : 13 MAR 2015, DOI: 10.1002/humu.22740

  9. You have full text access to this OnlineOpen article
    Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

    Human Mutation

    Christopher M. Watson, Laura A. Crinnion, Juliana Gurgel-Gianetti, Sally M. Harrison, Catherine Daly, Agne Antanavicuite, Carolina Lascelles, Alexander F. Markham, Sergio D. J. Pena, David T. Bonthron and Ian M. Carr

    Article first published online : 22 JUL 2015, DOI: 10.1002/humu.22818

  10. Assessing How Reduced Expression Levels of the Mismatch Repair Genes MLH1, MSH2, and MSH6 Affect Repair Efficiency

    Human Mutation

    Volume 35, Issue 9, September 2014, Pages: 1123–1127, Minttu Kansikas, Mariann Kasela, Jukka Kantelinen and Minna Nyström

    Article first published online : 8 JUL 2014, DOI: 10.1002/humu.22605

  11. You have full text access to this OnlineOpen article
    Stepwise Functional Assessment of Unclassified DNA Variants

    Human Mutation

    Volume 32, Issue 1, January 2011, Page: v, Maurizio Genuardi

    Article first published online : 22 DEC 2010, DOI: 10.1002/humu.21433

  12. You have full text access to this OnlineOpen article
    Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 434–441, Christopher M. Watson, Laura A. Crinnion, Joanne E. Morgan, Sally M. Harrison, Christine P. Diggle, Julian Adlard, Helen A. Lindsay, Nick Camm, Ruth Charlton, Eamonn Sheridan, David T. Bonthron, Graham R. Taylor and Ian M. Carr

    Article first published online : 17 MAR 2014, DOI: 10.1002/humu.22490

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    A database to support the interpretation of human mismatch repair gene variants

    Human Mutation

    Volume 29, Issue 11, November 2008, Pages: 1337–1341, Jianghua Ou, Renée C. Niessen, Jan Vonk, Helga Westers, Robert M.W. Hofstra and Rolf H. Sijmons

    Article first published online : 24 OCT 2008, DOI: 10.1002/humu.20907

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    Assessment of functional effects of unclassified genetic variants

    Human Mutation

    Volume 29, Issue 11, November 2008, Pages: 1314–1326, Fergus J. Couch, Lene Juel Rasmussen, Robert Hofstra, Alvaro N.A. Monteiro, Marc S. Greenblatt and Niels de Wind

    Article first published online : 24 OCT 2008, DOI: 10.1002/humu.20899

  15. Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future

    Human Mutation

    Volume 33, Issue 12, December 2012, Pages: 1617–1625, Lene Juel Rasmussen, Christopher D. Heinen, Brigitte Royer-Pokora, Mark Drost, Sean Tavtigian, Robert M.W. Hofstra and Niels de Wind

    Article first published online : 13 AUG 2012, DOI: 10.1002/humu.22168

  16. RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

    Human Mutation

    Volume 29, Issue 2, February 2008, Pages: 299–305, J. Etzler, A. Peyrl, A. Zatkova, H-U. Schildhaus, A. Ficek, S. Merkelbach-Bruse, C.P. Kratz, A. Attarbaschi, J.A. Hainfellner, S. Yao, L. Messiaen, I. Slavc and K. Wimmer

    Article first published online : 20 NOV 2007, DOI: 10.1002/humu.20657

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    Deciphering the colon cancer genes—report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

    Human Mutation

    Volume 32, Issue 4, April 2011, Pages: 491–494, Maija R.J. Kohonen-Corish, Finlay Macrae, Maurizio Genuardi, Stefan Aretz, Bharati Bapat, Inge T. Bernstein, John Burn, Richard G.H. Cotton, Johan T. den Dunnen, Thierry Frebourg, Marc S. Greenblatt, Robert Hofstra, Elke Holinski-Feder, Ilkka Lappalainen, Annika Lindblom, Donna Maglott, Pål Møller, Hans Morreau, Gabriela Möslein, Rolf Sijmons, Amanda B. Spurdle, Sean Tavtigian, Carli M.J. Tops, Thomas K. Weber, Niels de Wind, Michael O. Woods and on behalf of Contributors to the InSiGHT-HVP Workshop

    Article first published online : 8 MAR 2011, DOI: 10.1002/humu.21450

  18. Cancer Risks for MLH1 and MSH2 Mutation Carriers

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 490–497, James G. Dowty, Aung K. Win, Daniel D. Buchanan, Noralane M. Lindor, Finlay A. Macrae, Mark Clendenning, Yoland C. Antill, Stephen N. Thibodeau, Graham Casey, Steve Gallinger, Loic Le Marchand, Polly A. Newcomb, Robert W. Haile, Graeme P. Young, Paul A. James, Graham G. Giles, Shanaka R. Gunawardena, Barbara A. Leggett, Michael Gattas, Alex Boussioutas, Dennis J. Ahnen, John A. Baron, Susan Parry, Jack Goldblatt, Joanne P. Young, John L. Hopper and Mark A. Jenkins

    Article first published online : 18 FEB 2013, DOI: 10.1002/humu.22262

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    Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance

    Human Mutation

    Volume 29, Issue 11, November 2008, Pages: 1292–1303, Robert M.W. Hofstra, Amanda B. Spurdle, Diana Eccles, William D. Foulkes, Niels de Wind, Nicoline Hoogerbrugge and Frans B.L. Hogervorst

    Article first published online : 24 OCT 2008, DOI: 10.1002/humu.20894

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    MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system

    Human Mutation

    Volume 29, Issue 11, November 2008, Pages: E296–E309, Laura Belvederesi, Francesca Bianchi, Eva Galizia, Cristian Loretelli, Raffaella Bracci, Romina Catalani, Monica Amati and Riccardo Cellerino

    Article first published online : 9 SEP 2008, DOI: 10.1002/humu.20875