Pitfalls in the diagnosis of biallelic PMS2 mutations

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

Leigha Senter, Mark Clendenning, Kaisa Sotamaa et al. · Gastroenterology · 2008 · 544 citations · Full text

Autoimmune Disease, Genetic Disorder, Medicine +10

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

Marie D. Ricciardone, Tayfun Özçelik, B Cevher et al. · PubMed · 1999 · 253 citations

Hematological Malignancy, Neuro-oncology, Disease Susceptibility +14

Cancer Risks For Mismatch Repair Gene Mutation Carriers: A Population-Based Early Onset Case-Family Study

Mark A. Jenkins, Laura Baglietto, James G. Dowty et al. · Clinical Gastroenterology and Hepatology · 2006 · 171 citations

Genome Instability, Somatic Variant, Cancer Pathology +10

Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation

Steven Gallinger, Melyssa Aronson, Katayoon Shayan et al. · Gastroenterology · 2004 · 125 citations · Full text

Neuro-oncology, Somatic Variant, Genetic Disorder +10

Biallelic germline mutations of mismatch‐repair genes

Jan‐Werner Poley, Anja Wagner, Monique M. C. P. Hoogmans et al. · Cancer · 2007 · 98 citations · Full text