Detalhe da pesquisa
1.
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
N Engl J Med
; 384(5): 428-439, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33471991
2.
A crowdsourcing database for the copy-number variation of the Spanish population.
Hum Genomics
; 17(1): 20, 2023 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36894999
3.
CSVS, a crowdsourcing database of the Spanish population genetic variability.
Nucleic Acids Res
; 49(D1): D1130-D1137, 2021 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32990755
4.
Reassessment of genotype 1 hepatitis C virus subtype misclassification by LiPA 2.0: implications for direct-acting antiviral treatment.
J Clin Microbiol
; 52(11): 4027-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25143567
5.
Health and wellbeing status of the long-lived individuals of the Spanish LONGECYL cross-sectional study.
Arch Public Health
; 82(1): 77, 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769585
6.
A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact.
Pharmaceutics
; 15(4)2023 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37111771
7.
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Nat Genet
; 55(9): 1435-1439, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592023
8.
Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.
Am J Med Genet A
; 158A(4): 816-20, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22344793
9.
Genetic, environmental and life-style factors associated with longevity. Protocol and response of the LONGECYL Study.
Gac Sanit
; 36(3): 260-264, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35339311
10.
A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.
Cancers (Basel)
; 14(19)2022 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36230663
11.
Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.
BMC Med Genet
; 12: 138, 2011 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21995290
12.
POLRMT as a Novel Susceptibility Gene for Cardiotoxicity in Epirubicin Treatment of Breast Cancer Patients.
Pharmaceutics
; 13(11)2021 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34834357
13.
Regulatory CDH4 Genetic Variants Associate With Risk to Develop Capecitabine-Induced Hand-Foot Syndrome.
Clin Pharmacol Ther
; 109(2): 462-470, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32757270
14.
Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.
BMC Med Genet
; 11: 71, 2010 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20459765
15.
Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.
BMC Med Genet
; 11: 137, 2010 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-20860806
16.
Association Between ABCB1 Genetic Variants and Persistent Chemotherapy-Induced Alopecia in Women With Breast Cancer.
JAMA Dermatol
; 156(9): 987-991, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32756886
17.
A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.
BMC Med Genet
; 10: 119, 2009 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-19925665
18.
BRAF V600E Detection in Liquid Biopsies from Pediatric Central Nervous System Tumors.
Cancers (Basel)
; 12(1)2019 Dec 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31881643
19.
Corrigendum: miARma-Seq: a comprehensive tool for miRNA, mRNA and circRNA analysis.
Sci Rep
; 8: 46928, 2018 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29308784
20.
Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.
Nat Genet
; 55(11): 2009, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37752376