Detalles de la búsqueda
1.
IMAGING RHEGMATOGENOUS RETINAL LESIONS AND PERIPHERAL VITREORETINAL INTERFACE WITH WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY.
Retina
; 44(2): 269-279, 2024 Feb 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37856780
2.
Peripheral Intravascular Catheter-Assisted Sutureless Scleral Fixation of Three-Piece Intraocular Lenses: A Novel Technique.
Retina
; 43(12): 2096-2100, 2023 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36728883
3.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Hum Mutat
; 43(12): 1921-1944, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35979650
4.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(1): 119-129, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906479
5.
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
Hum Mutat
; 42(11): 1488-1502, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34420246
6.
Microscope-Assisted Episcleral Surgery with Encircling Buckles and Chandelier Endoillumination for Primary Rhegmatogenous Retinal Detachment in Phakic and Pseudophakic Patients: A 12-Month Comparative Study.
Ophthalmologica
; 244(6): 560-568, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34198301
7.
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
J Med Genet
; 56(6): 347-357, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30962250
8.
Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy.
Int J Cancer
; 145(2): 390-400, 2019 07 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-30613976
9.
The association between weight at birth and breast cancer risk revisited using Mendelian randomisation.
Eur J Epidemiol
; 34(6): 591-600, 2019 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-30737679
10.
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Hum Mutat
; 39(12): 2025-2039, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30204945
11.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27008870
12.
A Microsatellite in the Coding Sequence of HLA-A/B Is a Mutation Hotspot in Colon Cancer With Microsatellite Instability.
Gastroenterology
; 162(3): 960-963.e3, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34653421
13.
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Genet Med
; 20(4): 452-457, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28837162
14.
Whole-exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene.
Cancer
; 123(2): 210-218, 2017 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27648926
15.
Breast-cancer risk in families with mutations in PALB2.
N Engl J Med
; 371(6): 497-506, 2014 Aug 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-25099575
16.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(10): 2208, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-36205748
17.
Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
J Med Genet
; 53(8): 548-58, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27060066
18.
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.
J Med Genet
; 53(12): 800-811, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27595995
19.
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Hum Mol Genet
; 23(14): 3666-80, 2014 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24569164
20.
Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium.
Hum Genet
; 135(1): 137-54, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26621531