High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
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V. Moreno | C. Lázaro | G. Capellá | K. Dahan | N. Bonifaci | K. Wimmer | T. Rosenbaum | M. Nathrath | C. Kratz | F. Balaguer | J. Brunet | M. Navarro | S. Lobitz | T. Ripperger | M. Pineda | B. Florkin | D. Januszkiewicz-Lewandowska | Ángela Velasco | R. Ayala | D. Rueda | H. Salvador | A. Azizi | L. González-Granado | Sílvia Iglesias | M. Suerink | T. Imschweiler | I. Ragab | P. Guerra-García | U. Demirsoy | Èlia Grau Garces | M. González-Acosta | Anna Fernández | H. Pander | Benjamin Puliafito | F. Marín | Benjamin R. Puliafito
[1] W. Foulkes,et al. A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes , 2019, Human mutation.
[2] K. Cole,et al. Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue. , 2019, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[3] L. Messiaen,et al. Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy , 2018, Journal of Medical Genetics.
[4] I. Jeon,et al. Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome , 2016, Korean journal of pediatrics.
[5] H. Blanché,et al. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents. , 2015, Gastroenterology.
[6] M. Kloor,et al. Mismatch Repair-Deficient Crypt Foci in Lynch Syndrome – Molecular Alterations and Association with Clinical Parameters , 2015, PloS one.
[7] Michael J. McGuffin,et al. A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype , 2015, Journal of Medical Genetics.
[8] Christopher D. Heinen,et al. Milestones of Lynch syndrome: 1895–2015 , 2015, Nature Reviews Cancer.
[9] Roland Arnold,et al. Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers , 2015, Nature Genetics.
[10] Colin C Pritchard,et al. Microsatellite instability detection by next generation sequencing. , 2014, Clinical chemistry.
[11] J. Church,et al. Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer , 2014, The American Journal of Gastroenterology.
[12] A. Duval,et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD) , 2014, Journal of Medical Genetics.
[13] Kai Ye,et al. MSIsensor: microsatellite instability detection using paired tumor-normal sequence data , 2014, Bioinform..
[14] C. Hawkins,et al. Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. , 2014, European journal of cancer.
[15] A. Duval,et al. Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D) , 2014, Journal of Medical Genetics.
[16] D. Bonthron,et al. Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome , 2013, Human mutation.
[17] Jesse J. Salk,et al. Detection of ultra-rare mutations by next-generation sequencing , 2012, Proceedings of the National Academy of Sciences.
[18] M. Frazier,et al. Microsatellite instability in the peripheral blood leukocytes of HNPCC patients , 2010, Human mutation.
[19] M. Urioste,et al. Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer. , 2006, The Journal of pediatrics.
[20] G. Capellá,et al. Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis. , 2005, Human molecular genetics.