Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome

This publication has 28 references indexed in Scilit:

• Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow‐up of a kindred
  Pediatric Blood & Cancer, 2011
• Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines
  European Journal of Cancer, 2011
• The Gastrointestinal Phenotype of Germline Biallelic Mismatch Repair Gene Mutations
  American Journal of Gastroenterology, 2010
• Constitutional mismatch repair-deficiency syndrome
  Haematologica, 2010
• A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts
  Familial Cancer, 2008
• Colonic Polyps in Children and Adolescents
  Canadian Journal of Gastroenterology and Hepatology, 2007
• Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis
  European Journal of Pediatrics, 2005
• Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation
  Gastroenterology, 2004
• The Molecular Basis of Turcot's Syndrome
  New England Journal of Medicine, 1995
• Turcot's syndrome: A diagnostic consideration in a child with primary adenocarcinoma of the colon
  Journal of Pediatric Surgery, 1989