Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

Human MSH6 Deficiency Is Associated with Impaired Antibody Maturation

(2012) P. Gardes et al.   JOURNAL OF IMMUNOLOGY

Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations

(2011) PC Johannesma et al.   CLINICAL GENETICS

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines

(2011) Johanna C. Herkert et al.   EUROPEAN JOURNAL OF CANCER

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

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

The Gastrointestinal Phenotype of Germline Biallelic Mismatch Repair Gene Mutations

(2010) Carol A Durno et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

MutSβ exceeds MutSα in dinucleotide loop repair

(2010) J Kantelinen et al.   BRITISH JOURNAL OF CANCER

Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations

(2010) CHM Leenen et al.   CLINICAL GENETICS

Constitutional mismatch repair-deficiency syndrome

(2010) K. Wimmer et al.   HAEMATOLOGICA

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants

(2010) Minttu Kansikas et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Constitutional mismatch repair deficiency and childhood leukemia/lymphoma - report on a novel biallelic MSH6 mutation

(2009) T. Ripperger et al.   HAEMATOLOGICA

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

(2008) Katharina Wimmer et al.   HUMAN GENETICS

Accurate classification ofMLH1/MSH2missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)

(2008) Elizabeth C. Chao et al.   HUMAN MUTATION

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

(2008) Sophie Péron et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2007) J. Etzler et al.   HUMAN MUTATION

Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia

(2007) Hani Alotaibi et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation

(2007) Sridharan Gururangan et al.   NEURO-ONCOLOGY