Detalhe da pesquisa
1.
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
PLoS Genet
; 17(10): e1009848, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34662339
2.
IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.
Hum Genet
; 137(6-7): 447-458, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29978320
3.
Mitochondrial DNA haplogroups influence the risk of incident knee osteoarthritis in OAI and CHECK cohorts. A meta-analysis and functional study.
Ann Rheum Dis
; 76(6): 1114-1122, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27919866
4.
A replication study and meta-analysis of mitochondrial DNA variants in the radiographic progression of knee osteoarthritis.
Rheumatology (Oxford)
; 56(2): 263-270, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27864563
5.
Mitochondrial DNA haplogroups modulate the radiographic progression of Spanish patients with osteoarthritis.
Rheumatol Int
; 35(2): 337-44, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25086630
6.
Genome-wide DNA methylation analysis of articular chondrocytes reveals a cluster of osteoarthritic patients.
Ann Rheum Dis
; 73(4): 668-77, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23505229
7.
Mitochondrial DNA (mtDNA) haplogroups and serum levels of anti-oxidant enzymes in patients with osteoarthritis.
BMC Musculoskelet Disord
; 12: 264, 2011 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22108257
8.
mtDNA haplogroup J modulates telomere length and nitric oxide production.
BMC Musculoskelet Disord
; 12: 283, 2011 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22171676
9.
Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease.
Sci Transl Med
; 12(535)2020 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32188720
10.
Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.
Aging Cell
; 18(6): e13011, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31385385
11.
Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy.
Hum Gene Ther
; 30(5): 632-650, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30499344
12.
Correction: Gustafson et al., Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree. Genes 2017, 8, 210.
Genes (Basel)
; 8(10)2017 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29065517
13.
Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.
Genes (Basel)
; 8(9)2017 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28837078
14.
Mitochondrial DNA (mtDNA) haplogroups influence the progression of knee osteoarthritis. Data from the Osteoarthritis Initiative (OAI).
PLoS One
; 9(11): e112735, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25390621
15.
Mitochondrial genetics and osteoarthritis.
Front Biosci (Schol Ed)
; 5(1): 360-8, 2013 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23277056
16.
Mitochondrial haplogroups define two phenotypes of osteoarthritis.
Front Physiol
; 3: 129, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22593743