Refining the role ofpms2in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants

Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility

(2012) Guixiang Ji et al.   BMC Medicine

Recurrent and founder mutations in thePMS2gene

(2012) J Tomsic et al.   CLINICAL GENETICS

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL

(2012) Annekatrin Wernstedt et al.   GENES CHROMOSOMES & CANCER

Functional characterization ofMLH1missense variants identified in lynch syndrome patients

(2012) Sofie Dabros Andersen et al.   HUMAN MUTATION

Comprehensive functional assessment ofMLH1variants of unknown significance

(2012) Ester Borràs et al.   HUMAN MUTATION

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

(2012) Lene Juel Rasmussen et al.   HUMAN MUTATION

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

(2012) Bryony A. Thompson et al.   HUMAN MUTATION

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

(2012) Bryony A. Thompson et al.   HUMAN MUTATION

Insertion of an SVA element, a nonautonomous retrotransposon, inPMS2intron 7 as a novel cause of lynch syndrome

(2012) Heleen M. van der Klift et al.   HUMAN MUTATION

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrated analysis of unclassified variants in mismatch repair genes

(2011) Chiara Pastrello et al.   GENETICS IN MEDICINE

Avoidance of pseudogene interference in the detection of 3′ deletions in PMS2

(2011) Cecily P. Vaughn et al.   HUMAN MUTATION

A CRM1-dependent nuclear export pathway is involved in the regulation of MutLα subcellular localization

(2010) Angela Brieger et al.   GENES CHROMOSOMES & CANCER

Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair

(2010) Jan Kosinski et al.   HUMAN MUTATION

A Novel and Rapid Method of Determining the Effect of Unclassified MLH1 Genetic Variants on Differential Allelic Expression

(2010) Sheron Perera et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

PMS2 involvement in patients suspected of Lynch syndrome

(2009) Renée C. Niessen et al.   GENES CHROMOSOMES & CANCER

ClassifyingMLH1andMSH2variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

(2009) Sven Arnold et al.   HUMAN MUTATION

A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts

(2008) Wenche Sjursen et al.   Familial Cancer

The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

(2008) Leigha Senter et al.   GASTROENTEROLOGY

Prediction and assessment of splicing alterations: implications for clinical testing

(2008) Amanda B. Spurdle et al.   HUMAN MUTATION

Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) genePMS2

(2008) Carl-Christian Jackson et al.   PEDIATRIC BLOOD & CANCER

Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q

(2008) I. Marinovic-Terzic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2007) J. Etzler et al.   HUMAN MUTATION