Detalhe da pesquisa
1.
Germline gain-of-function MMP11 variant results in an aggressive form of colorectal cancer.
Int J Cancer
; 152(2): 283-297, 2023 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36093604
2.
Effect Modification between Genes and Environment and Parkinson's Disease Risk.
Ann Neurol
; 92(5): 715-724, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913124
3.
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Mov Disord
; 38(2): 286-303, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36692014
4.
Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer's Disease Aetiopathogenesis in Men.
Int J Mol Sci
; 24(2)2023 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36674414
5.
Intermediate and Expanded HTT Alleles and the Risk for α-Synucleinopathies.
Mov Disord
; 37(9): 1841-1849, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35852957
6.
Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer.
Gastroenterology
; 159(1): 227-240.e7, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32179092
7.
Association of PICALM with Cognitive Impairment in Parkinson's Disease.
Mov Disord
; 36(1): 118-123, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32914893
8.
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Eur J Neurol
; 28(4): 1188-1197, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33175450
9.
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
J Med Genet
; 56(7): 453-460, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890586
10.
SETD6 dominant negative mutation in familial colorectal cancer type X.
Hum Mol Genet
; 26(22): 4481-4493, 2017 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973356
11.
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Mov Disord
; 34(12): 1851-1863, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660654
12.
Differential distribution and enrichment of non-coding RNAs in exosomes from normal and Cancer-associated fibroblasts in colorectal cancer.
Mol Cancer
; 17(1): 114, 2018 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30075793
13.
Increased Stroke Risk in Patients with Parkinson's Disease with LRRK2 Mutations.
Mov Disord
; 37(1): 225-227, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859503
14.
Reply to: "Increased Stroke Risk in Patients with Parkinson's Disease with LRRK2 Mutations".
Mov Disord
; 37(5): 1119-1120, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35587631
15.
Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).
Carcinogenesis
; 37(8): 751-8, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27234654
16.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-24569164
17.
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.
Gastroenterology
; 149(3): 563-6, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26052075
18.
Low serum uric acid levels in progressive supranuclear palsy.
Mov Disord
; 31(3): 402-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26686202
19.
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.
Genet Med
; 17(2): 131-42, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25058500
20.
BRCA1 Alternative splicing landscape in breast tissue samples.
BMC Cancer
; 15: 219, 2015 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25884417