Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

(2015) Adam Shlien et al.   NATURE GENETICS

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium

(2014) Doua Bakry et al.   EUROPEAN JOURNAL OF CANCER

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

(2014) Katharina Wimmer et al.   JOURNAL OF MEDICAL GENETICS

Diversity of the clinical presentation of the MMR gene biallelic mutations

(2013) Gaëlle Bougeard et al.   Familial Cancer

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

Annual Report to the Nation on the Status of Cancer, 1975-2007, Featuring Tumors of the Brain and Other Nervous System

(2011) B. A. Kohler et al.   JNCI-Journal of the National Cancer Institute

Constitutional mismatch repair-deficiency syndrome

(2010) K. Wimmer et al.   HAEMATOLOGICA

Coordination of DNA Mismatch Repair and Base Excision Repair Processing of Chemotherapy and Radiation Damage for Targeting Resistant Cancers

(2009) T. J. Kinsella   CLINICAL CANCER RESEARCH

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

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

Poor Outcome for Children and Adolescents With Progressive Disease or Relapse of Lymphoblastic Lymphoma: A Report From the Berlin-Frankfurt-Muenster Group

(2009) Birgit Burkhardt et al.   JOURNAL OF CLINICAL ONCOLOGY

Biallelic PMS2 Mutations and a Distinctive Childhood Cancer Syndrome

(2009) Tiong Yang Tan et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

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

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

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

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

(2007) J. Etzler et al.   HUMAN MUTATION