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

The Gastrointestinal Phenotype of Germline Biallelic Mismatch Repair Gene Mutations

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

A review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory

(2009) Margot G.F. Van Lier et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

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

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

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

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

(2007) J. Etzler et al.   HUMAN MUTATION