Related references
Note: Only part of the references are listed.An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation
Angela Arnold et al.
FAMILIAL CANCER (2007)
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or Keratoacanthomas
Giovanni Ponti et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2006)
Different phenotypes in Muir-Torre syndrome: clinical and biomolecular characterization in two Italian families
G Ponti et al.
BRITISH JOURNAL OF DERMATOLOGY (2005)
Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas - Role of clinical features, microsatellite instability, and immunohistochemistry
G Ponti et al.
CANCER (2005)
Mismatch repair gene PMS2:: Disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation
H Nakagawa et al.
CANCER RESEARCH (2004)
A genotype-phenotype correlation in HNPCC:: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome
E Mangold et al.
JOURNAL OF MEDICAL GENETICS (2004)
Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias
R Kruse et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2003)
Genomic medicine - Hereditary colorectal cancer
HT Lynch et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
Loss of mismatch repair proteins in sebaceous gland tumors
NK Popnikolov et al.
JOURNAL OF CUTANEOUS PATHOLOGY (2003)
Microsatellite instability and immunostaining for MSH-2 and MLH-1 in cutaneous and internal tumors from patients with the Muir-Torre syndrome
P Machin et al.
JOURNAL OF CUTANEOUS PATHOLOGY (2002)
Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations - Establishment of immunohistochemical analysis as a screening test
M Mathiak et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2002)
Recurrent germline mutation in MSH2 arises frequently de novo
DC Desai et al.
JOURNAL OF MEDICAL GENETICS (2000)