Detalhe da pesquisa
1.
The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times.
Int J Mol Sci
; 24(21)2023 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37958491
2.
RAD52 influences the effect of BRCA1/2 missense variants on homologous recombination and gene reversion in Saccharomyces cerevisiae.
FEMS Yeast Res
; 22(1)2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35472165
3.
Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.
Int J Mol Sci
; 23(7)2022 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35409408
4.
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Int J Mol Sci
; 22(14)2021 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34299313
5.
A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.
BMC Med Genet
; 21(1): 220, 2020 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33167880
6.
Effect of BRCA1 missense variants on gene reversion in DNA double-strand break repair mutants and cell cycle-arrested cells of Saccharomyces cerevisiae.
Mutagenesis
; 35(2): 189-195, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769492
7.
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.
BMC Neurol
; 18(1): 99, 2018 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30029642
8.
Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile.
Carcinogenesis
; 38(9): 938-943, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28911001
9.
Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.
Genes Chromosomes Cancer
; 55(12): 915-924, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27328445
10.
The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis.
Pediatr Pulmonol
; 59(4): 891-898, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38169302
11.
Identification of two novel BRCA1-partner genes in the DNA double-strand break repair pathway.
Breast Cancer Res Treat
; 141(3): 515-22, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24104880
12.
Effect of the expression of BRCA2 on spontaneous homologous recombination and DNA damage-induced nuclear foci in Saccharomyces cerevisiae.
Mutagenesis
; 28(2): 187-95, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23328489
13.
In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development.
Genes (Basel)
; 14(11)2023 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003010
14.
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.
J Neuromuscul Dis
; 10(1): 119-123, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36404555
15.
Cutaneous lesions and other non-endocrine manifestations of Multiple Endocrine Neoplasia type 1 syndrome.
Front Endocrinol (Lausanne)
; 14: 1191040, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37484956
16.
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.
Breast Cancer Res
; 14(2): R63, 2012 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-22513257
17.
The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 132(3): 1119-26, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22212556
18.
Effects on human transcriptome of mutated BRCA1 BRCT domain: a microarray study.
BMC Cancer
; 12: 207, 2012 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-22646717
19.
BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.
Gynecol Oncol
; 125(3): 687-92, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22425665
20.
Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant.
J Clin Endocrinol Metab
; 107(8): e3159-e3166, 2022 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35569070