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(1 - 15 of 15)
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome
Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants
Gynecological surveillance and surgery outcomes in Dutch Lynch syndrome carriers
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
SNP association study in PMS2-associated Lynch syndrome
PMS2-associated Lynch syndrome : the odd one out
Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
Development of in vitro and in vivo functional assays to enable diagnosis of Variants of Uncertain Significance in the common cancer predisposition Lynch syndrome
Inactivation of DNA Mismatch Repair by Variants of Uncertain Significance in the PMS2 Gene
Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of lynch syndrome
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations