about
MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneityBiphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylaseThe DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instabilityEvidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomasInvolvement of MBD4 inactivation in mismatch repair-deficient tumorigenesisPartial tetrasomy 9 in an infant with clinical and radiological evidence of multiple joint dislocationsFatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients.MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use.A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene.Localization of the HLA class II-associated invariant chain gene to human chromosome band 5q32.Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Aetiology of colorectal cancer and relevance of monogenic inheritance.Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factorMLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria.Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012Towards a European consensus for reporting incidental findings during clinical NGS testing.Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer riskIdentification and classification of hereditary nonpolyposis colorectal cancer (Lynch syndrome): adapting old concepts to recent advancements. Report from the Italian Association for the study of Hereditary Colorectal Tumors Consensus Group.A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case.MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.Constitutional trisomy 8 and myelodysplasia: report of a case and review of the literature.Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome databaseVariable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility.Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report.
P50
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wetenschapper
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հետազոտող
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M Genuardi
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M Genuardi
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Maurizio Genuardi
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Maurizio Genuardi
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M Genuardi
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M Genuardi
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Maurizio Genuardi
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Maurizio Genuardi
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M Genuardi
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M Genuardi
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M Genuardi
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Maurizio Genuardi
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Maurizio Genuardi
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P106
P21
P31
P496
0000-0002-7410-8351