×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
22692065
2013
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors.
18593904
2008
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
17440981
2007
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.
15139004
2004
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.
15340263
2004
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation.
14762794
2004
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots.
11809679
2002
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Autopsy tissues from a 4-year-old with congenital MMR deficiency (MLH1 -/-) were examined for MS mutations.
11389087
2001
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene.
10763829
2000
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Thus, a homozygous germ-line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by leukemia and/or lymphoma associated with neurofibromatosis type 1.
9927033
1999
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Neurofibromatosis and early onset of cancers in hMLH1-deficient children.
9927034
1999
×
Entrez Id:
4292
Gene Symbol:
MLH1
MLH1
Turcot syndrome (disorder)
0.800
Biomarker
CLINGEN
Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair.
9500552
1998