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There are 8239 results for: content related to: Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

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


    Current Protocols in Human Genetics


    Madhuri R. Hegde and Benjamin B. Roa

    Published Online : 1 APR 2009, DOI: 10.1002/0471142905.hg1012s61

  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

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

  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

  4. 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

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


    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

  6. You have free access to this content
    Large genomic rearrangements and germline epimutations in Lynch syndrome

    International Journal of Cancer

    Volume 124, Issue 10, 15 May 2009, Pages: 2333–2340, Annette Gylling, Maaret Ridanpää, Outi Vierimaa, Kristiina Aittomäki, Kristiina Avela, Helena Kääriäinen, Hannele Laivuori, Minna Pöyhönen, Satu-Leena Sallinen, Carina Wallgren-Pettersson, Heikki J. Järvinen, Jukka-Pekka Mecklin and Paivi Peltomäki

    Version of Record online : 18 DEC 2008, DOI: 10.1002/ijc.24230

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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

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    Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations

    International Journal of Cancer

    Volume 136, Issue 6, 15 March 2015, Pages: E559–E568, Cornelia Kraus, Tilman T. Rau, Philipp Lux, Katharina Erlenbach-Wünsch, Sabine Löhr, Mandy Krumbiegel, Christian T. Thiel, Robert Stöhr, Abbas Agaimy, Roland S. Croner, Michael Stürzl, Werner Hohenberger, Arndt Hartmann and André Reis

    Version of Record online : 30 AUG 2014, DOI: 10.1002/ijc.29149

  9. Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome

    The Journal of Pathology

    Volume 226, Issue 5, April 2012, Pages: 764–774, Margot GF van Lier, Celine HM Leenen, Anja Wagner, Dewkoemar Ramsoekh, Hendrikus J Dubbink, Ans MW van den Ouweland, Pieter J Westenend, Eelco JR de Graaf, Leonieke MM Wolters, Wietske W Vrijland, Ernst J Kuipers, Monique E van Leerdam, Ewout W Steyerberg, Winand NM Dinjens and on behalf of the LIMO Study Group

    Version of Record online : 17 JAN 2012, DOI: 10.1002/path.3963

  10. Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome

    European Journal of Neurology

    Volume 22, Issue 4, April 2015, Pages: 717–724, C. Therkildsen, S. Ladelund, E. Rambech, A. Persson, A. Petersen and M. Nilbert

    Version of Record online : 19 JAN 2015, DOI: 10.1111/ene.12647

  11. You have full text access to this OnlineOpen article
    Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

    Human Mutation

    Volume 36, Issue 7, July 2015, Pages: 712–719, K. Joeri van der Velde, Joël Kuiper, Bryony A. Thompson, John-Paul Plazzer, Gert van Valkenhoef, Mark de Haan, Jan D.H. Jongbloed, Cisca Wijmenga, Tom J. de Koning, Kristin M. Abbott, Richard Sinke, Amanda B. Spurdle, Finlay Macrae, Maurizio Genuardi, Rolf H. Sijmons, Morris A. Swertz and InSiGHT Group

    Version of Record online : 20 MAY 2015, DOI: 10.1002/humu.22798

  12. Genetic features of Lynch syndrome in the Israeli population

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 549–553, Y. Goldberg, I. Barnes-Kedar, I. Lerer, N. Halpern, M. Plesser, A. Hubert, L. Kadouri, H. Goldshmidt, I. Solar, H. Strul, G. Rosner, H.N. Baris, T. Peretz, Z. Levi and R. Kariv

    Version of Record online : 28 NOV 2014, DOI: 10.1111/cge.12530

  13. You have full text access to this OnlineOpen article
    A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes

    Molecular Genetics & Genomic Medicine

    Volume 2, Issue 2, March 2014, Pages: 186–200, Maren F. Hansen, Ulrike Neckmann, Liss A. S. Lavik, Trine Vold, Bodil Gilde, Ragnhild K. Toft and Wenche Sjursen

    Version of Record online : 21 JAN 2014, DOI: 10.1002/mgg3.62

  14. Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1294–1301, Jukka Kantelinen, Minttu Kansikas, Satu Candelin, Heather Hampel, Betsy Smith, Liisa Holm, Reetta Kariola and Minna Nyström

    Version of Record online : 11 JUN 2012, DOI: 10.1002/humu.22119

  15. Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 2, 1 December 2005, Pages: 96–105, John R. Østergaard, Lone Sunde and Henrik Okkels

    Version of Record online : 10 NOV 2005, DOI: 10.1002/ajmg.a.30998

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    Classification of mismatch repair gene missense variants with PON-MMR

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 642–650, Heidi Ali, Ayodeji Olatubosun and Mauno Vihinen

    Version of Record online : 12 MAR 2012, DOI: 10.1002/humu.22038

  17. Effect of alkyl silicone oil on the compatibility of polypropylene/microencapsulated ammonium polyphosphate composites

    Journal of Applied Polymer Science

    Volume 121, Issue 2, 15 July 2011, Pages: 1176–1182, Zhi-Ling Ma and Guang-Yu Lu

    Version of Record online : 28 FEB 2011, DOI: 10.1002/app.33613

  18. Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India

    Molecular Carcinogenesis

    Volume 54, Issue 12, December 2015, Pages: 1807–1814, Murali D. Bashyam, Viswakalyan Kotapalli, Ratheesh Raman, Ajay K. Chaudhary, Brijesh K. Yadav, Swarnalata Gowrishankar, Shantveer G. Uppin, Ravikanth Kongara, Regulagadda A. Sastry, Mohana Vamsy, Sujit Patnaik, Satish Rao, Shoba Dsouza, Devendra Desai and Ashavaid Tester

    Version of Record online : 24 NOV 2014, DOI: 10.1002/mc.22244

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    Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer

    International Journal of Cancer

    Volume 124, Issue 8, 15 April 2009, Pages: 1887–1891, Thibaud Koessler, Elizabeth M. Azzato, Barbara Perkins, Robert J. Macinnis, David Greenberg, Douglas F. Easton and Paul D.P. Pharoah

    Version of Record online : 7 NOV 2008, DOI: 10.1002/ijc.24120

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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