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There are 6594 results for: content related to: Large genomic rearrangements and germline epimutations in Lynch syndrome

  1. Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

    Unit

    Current Protocols in Human Genetics

    10:10.12.1–10.12.23

    Babi Ramesh Reddy Nallamilli and Madhuri Hegde

    Published Online : 11 JUL 2017, DOI: 10.1002/cphg.40

  2. Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 180–188, Michel Crépin, Marie-Claire Dieu, Sophie Lejeune, Fabienne Escande, Denis Boidin, Nicole Porchet, Gilles Morin, Sylvie Manouvrier, Michèle Mathieu and Marie-Pierre Buisine

    Version of Record online : 31 OCT 2011, DOI: 10.1002/humu.21617

  3. 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

    Version of Record online : 13 MAR 2015, DOI: 10.1002/humu.22740

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    Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

    Human Mutation

    Volume 38, Issue 1, January 2017, Pages: 64–77, Rossella Tricarico, Mariann Kasela, Cristina Mareni, Bryony A. Thompson, Aurélie Drouet, Lucia Staderini, Greta Gorelli, Francesca Crucianelli, Valentina Ingrosso, Jukka Kantelinen, Laura Papi, Maria De Angioletti, Margherita Berardi, Pascaline Gaildrat, Omar Soukarieh, Daniela Turchetti, Alexandra Martins, Amanda B. Spurdle, Minna Nyström, Maurizio Genuardi and InSiGHT Variant Interpretation Committee

    Version of Record online : 17 OCT 2016, DOI: 10.1002/humu.23117

  5. Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining

    The Journal of Pathology

    Volume 207, Issue 4, December 2005, Pages: 385–395, Elisabeth Mangold, Constanze Pagenstecher, Waltraut Friedl, Hans-Peter Fischer, Sabine Merkelbach-Bruse, Maike Ohlendorf, Nicolaus Friedrichs, Stefan Aretz, Reinhard Buettner, Peter Propping and Micaela Mathiak

    Version of Record online : 10 OCT 2005, DOI: 10.1002/path.1858

  6. Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer

    Genes, Chromosomes and Cancer

    Volume 33, Issue 2, February 2002, Pages: 160–167, Minna Nyström-Lahti, Claudia Perrera, Markus Räschle, Elena Panyushkina-Seiler, Giancarlo Marra, Anna Curci, Barbara Quaresima, Francesco Costanzo, Michele D'Urso, Salvatore Venuta and Josef Jiricny

    Version of Record online : 16 NOV 2001, DOI: 10.1002/gcc.1225

  7. Epigenetic mechanisms in the pathogenesis of Lynch syndrome

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 403–412, P. Peltomäki

    Version of Record online : 17 FEB 2014, DOI: 10.1111/cge.12349

  8. Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene

    Clinical Genetics

    Volume 75, Issue 4, April 2009, Pages: 334–345, R Tang, C Hsiung, J-Y Wang, C-H Lai, H-T Chien, L-L Chiu, C-T Liu, H-H Chen, H-M Wang, S-X Chen, L-L Hsieh and the TCOG HNPCC Consortium

    Version of Record online : 15 APR 2009, DOI: 10.1111/j.1399-0004.2009.01162.x

  9. Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)

    Genes, Chromosomes and Cancer

    Volume 44, Issue 2, October 2005, Pages: 123–138, Heleen van der Klift, Juul Wijnen, Anja Wagner, Paul Verkuilen, Carli Tops, Robyn Otway, Maija Kohonen-Corish, Hans Vasen, Cristina Oliani, Daniela Barana, Pal Moller, Celia DeLozier-Blanchet, Pierre Hutter, William Foulkes, Henry Lynch, John Burn, Gabriela Möslein and Riccardo Fodde

    Version of Record online : 7 JUN 2005, DOI: 10.1002/gcc.20219

  10. Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)

    Clinical Genetics

    Volume 69, Issue 1, January 2006, Pages: 40–47, G Kurzawski, J Suchy, M Lener, E Kłujszo-Grabowska, J Kładny, K Safranow, K Jakubowska, A Jakubowska, T Huzarski, T Byrski, T Dębniak, C Cybulski, J Gronwald, O Oszurek, D Oszutowska, E Kowalska, S Góźdź, S Niepsuj, R Słomski, A Pławski, A Łącka-Wojciechowska, A Rozmiarek, Ł Fiszer-Maliszewska, M Bębenek, D Sorokin, MM Sąsiadek, A Stembalska, Z Grzebieniak, E Kilar, M Stawicka, D Godlewski, P Richter, I Brożek, B Wysocka, J Limon, A Jawień, Z Banaszkiewicz, H Janiszewska, J Kowalczyk, D Czudowska, RJ Scott and J Lubiński

    Version of Record online : 13 DEC 2005, DOI: 10.1111/j.1399-0004.2006.00550.x

  11. Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome

    Histopathology

    Volume 56, Issue 3, February 2010, Pages: 331–344, Emma Barrow, Emma Jagger, Judith Brierley, Andrew Wallace, Gareth Evans, James Hill and Ray McMahon

    Version of Record online : 22 FEB 2010, DOI: 10.1111/j.1365-2559.2010.03485.x

  12. Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts

    Journal of Gastroenterology and Hepatology

    Volume 32, Issue 2, February 2017, Pages: 427–438, Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Stine V Eriksen, Michael D Walsh, Rhiannon J Walters, Stephen N Thibodeau, Jenna Stewart, Susan Preston, Aung Ko Win, Louisa Flander, Driss Ait Ouakrim, Finlay A Macrae, Alex Boussioutas, Ingrid M Winship, Graham G Giles, John L Hopper, Melissa C Southey, Dallas English, Mark A Jenkins and on behalf of the Melbourne Collaborative Cohort Study and the Australasian Colorectal Cancer Family Registry Cohort investigators

    Version of Record online : 21 FEB 2017, DOI: 10.1111/jgh.13468

  13. Some Surprising Facts About the Concentration of Trade Across Commodities and Trading Partners

    The World Economy

    Volume 36, Issue 9, September 2013, Pages: 1165–1186, Arvind Panagariya and Nitika Bagaria

    Version of Record online : 6 MAR 2013, DOI: 10.1111/twec.12060

  14. Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 507–516, G. Ponti, E. Castellsagué, C. Ruini, A. Percesepe and A. Tomasi

    Version of Record online : 9 DEC 2014, DOI: 10.1111/cge.12529

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    Evidence for breast cancer as an integral part of lynch syndrome

    Genes, Chromosomes and Cancer

    Volume 51, Issue 1, January 2012, Pages: 83–91, Nicole Buerki, Lucienne Gautier, Michal Kovac, Giancarlo Marra, Mauro Buser, Hansjakob Mueller and Karl Heinimann

    Version of Record online : 27 OCT 2011, DOI: 10.1002/gcc.20935

  16. 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

    Version of Record online : 11 OCT 2012, DOI: 10.1002/humu.22213

  17. Effectiveness of the crcapro program in identifying patients suspected for HNPCC

    Clinical Genetics

    Volume 71, Issue 2, February 2007, Pages: 158–164, F Bianchi, E Galizia, R Bracci, L Belvederesi, R Catalani, C Loretelli, G Giorgetti, C Ferretti, I Bearzi, E Porfiri and R Cellerino

    Version of Record online : 8 JAN 2007, DOI: 10.1111/j.1399-0004.2007.00746.x

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    Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: A population-based study in northern Sweden

    International Journal of Cancer

    Volume 109, Issue 3, 10 April 2004, Pages: 370–376, Kristina Cederquist, Monica Emanuelsson, Ingela Göransson, Elke Holinski-Feder, Yvonne Müller-Koch, Irina Golovleva and Henrik Grönberg

    Version of Record online : 9 JAN 2004, DOI: 10.1002/ijc.11718

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    Characterization of components of the mismatch repair machinery in Trypanosoma brucei

    Molecular Microbiology

    Volume 51, Issue 1, January 2004, Pages: 159–173, Joanna S. Bell, Timothy I. Harvey, Anne-Marie Sims and Richard McCulloch

    Version of Record online : 11 NOV 2003, DOI: 10.1046/j.1365-2958.2003.03804.x

  20. Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome

    Genes, Chromosomes and Cancer

    Volume 48, Issue 8, August 2009, Pages: 737–744, Renée C. Niessen, Robert M. W. Hofstra, Helga Westers, Marjolijn J. L. Ligtenberg, Krista Kooi, Paul O. J. Jager, Marloes L. de Groote, Trijnie Dijkhuizen, Maran J. W. Olderode-Berends, Harry Hollema, Jan H. Kleibeuker and Rolf H. Sijmons

    Version of Record online : 19 MAY 2009, DOI: 10.1002/gcc.20678