Search details
1.
A conserved motif in the disordered linker of human MLH1 is vital for DNA mismatch repair and its function is diminished by a cancer family mutation.
Nucleic Acids Res
; 51(12): 6307-6320, 2023 07 07.
Article
in English
| MEDLINE | ID: mdl-37224528
2.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Genet Med
; 26(2): 100992, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37800450
3.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Genet Med
; 26(5): 101101, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38362852
4.
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
J Med Genet
; 60(7): 697-705, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36414255
5.
Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
J Med Genet
; 60(4): 317-326, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36849229
6.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Lancet Oncol
; 24(1): 91-106, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36436516
7.
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
Int J Mol Sci
; 25(1)2023 Dec 29.
Article
in English
| MEDLINE | ID: mdl-38203665
8.
Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making.
Clin Genet
; 101(4): 454-458, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35038173
9.
Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.
Hum Genet
; 139(2): 227-245, 2020 Feb.
Article
in English
| MEDLINE | ID: mdl-31919630
10.
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.
Genet Med
; 22(9): 1524-1532, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32398773
11.
Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report.
BMC Cardiovasc Disord
; 20(1): 156, 2020 04 05.
Article
in English
| MEDLINE | ID: mdl-32248794
12.
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Genet Med
; 21(12): 2706-2712, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31204389
13.
Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.
Clin Genet
; 96(1): 102-103, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31012097
14.
Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility.
J Med Genet
; 55(10): 669-674, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29330337
15.
A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report.
BMC Oral Health
; 19(1): 249, 2019 11 15.
Article
in English
| MEDLINE | ID: mdl-31730001
16.
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.
Gut
; 67(7): 1306-1316, 2018 07.
Article
in English
| MEDLINE | ID: mdl-28754778
17.
Primary constitutional MLH1 epimutations: a focal epigenetic event.
Br J Cancer
; 119(8): 978-987, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30283143
18.
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.
Gut
; 66(9): 1657-1664, 2017 09.
Article
in English
| MEDLINE | ID: mdl-27261338
19.
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.
Hum Mutat
; 38(1): 64-77, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27629256
20.
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet
; 24(18): 5345-55, 2015 Sep 15.
Article
in English
| MEDLINE | ID: mdl-26130695