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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37800450
2.
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
BMC Cancer;
23(1): 368, 2023 Apr 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37085799
3.
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
medRxiv;
2024 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38746299
4.
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
Genes (Basel);
14(2)2023 01 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36833189
5.
Prenatal BRCA1 epimutations contribute significantly to triple-negative breast cancer development.
Genome Med;
15(1): 104, 2023 Dec 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38053165
6.
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Fam Cancer;
21(4): 389-398, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34981296
7.
Assessment of tumor suppressor promoter methylation in healthy individuals.
Clin Epigenetics;
12(1): 131, 2020 08 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-32859265
8.
The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
Eur J Hum Genet;
28(8): 1078-1086, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32203205
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