Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

(2014) H F A Vasen et al.   JOURNAL OF MEDICAL GENETICS

Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome

(2013) Danielle Ingham et al.   HUMAN MUTATION

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

(2012) Annette F Baas et al.   EUROPEAN JOURNAL OF HUMAN 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

Human MSH6 Deficiency Is Associated with Impaired Antibody Maturation

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

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Optic pathway glioma as part of a constitutional mismatch-repair deficiency syndrome in a patient meeting the criteria for neurofibromatosis type 1

(2012) Jacky T. Yeung et al.   PEDIATRIC BLOOD & CANCER

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

Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred

(2011) Carol A. Durno et al.   PEDIATRIC BLOOD & CANCER

High-grade brain tumors in siblings with biallelic MSH6 mutations

(2011) Denisa Ilencikova et al.   PEDIATRIC BLOOD & CANCER

Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin

(2010) KW Jasperson et al.   CLINICAL GENETICS

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

(2010) CHM Leenen et al.   CLINICAL GENETICS

Hepatic Adenomas Caused by Somatic HNF1A Mutations in Children With Biallelic Mismatch Repair Gene Mutations

(2010) Spring Holter et al.   GASTROENTEROLOGY

An Optimized Pentaplex PCR for Detecting DNA Mismatch Repair-Deficient Colorectal Cancers

(2010) Ajay Goel et al.   PLoS One

Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model

(2009) H. T. Lynch et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome

(2009) Laura Giunti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

(2009) Julie Tinat et al.   JOURNAL OF CLINICAL ONCOLOGY

Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

(2009) C P Kratz et al.   JOURNAL OF MEDICAL GENETICS

Compound heterozygosity for twoMSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus

(2008) Nils Rahner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2

(2008) Carolien M Kets et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I

(2008) Helen Toledano et al.   Familial Cancer

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

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

(2008) Katharina Wimmer et al.   HUMAN GENETICS

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

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

Clinical epidemiology for childhood primary central nervous system tumors

(2008) Luc Bauchet et al.   JOURNAL OF NEURO-ONCOLOGY

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