14 results on '"Lovecchio, Tonio"'
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2. AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer
3. AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
4. Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination
5. Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B
6. Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination
7. Human CYP4F12 genetic polymorphism: identification and functional characterization of seven variant allozymes
8. Functional characterization of genetic polymorphisms identified in the human cytochrome P450 4F12 (CYP4F12) promoter region
9. Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?
10. MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France
11. MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.
12. Diversity of genetic events associated with MLH1promoter methylation in Lynch syndrome families with heritable constitutional epimutation
13. Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination
14. Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer
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