Detalhe da pesquisa
1.
From the reward network to whole-brain metrics: structural connectivity in adolescents and young adults according to body mass index and genetic risk of obesity.
Int J Obes (Lond)
; 48(4): 567-574, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38145996
2.
Effect of the catechol-O-methyltransferase Val 158 Met polymorphism on theory of mind in obesity.
Eur Eat Disord Rev
; 27(4): 401-409, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30761671
3.
New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
Mol Vis
; 21: 857-70, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26321861
4.
The interaction effect between BDNF val66met polymorphism and obesity on executive functions and frontal structure.
Am J Med Genet B Neuropsychiatr Genet
; 165B(3): 245-53, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24619555
5.
Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.
PLoS One
; 19(1): e0282133, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38241218
6.
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Mol Vis
; 19: 1707-22, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23922489
7.
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
Mol Vis
; 19: 654-64, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23559859
8.
Clinical pharmacogenomic testing of KRAS, BRAF and EGFR mutations by high resolution melting analysis and ultra-deep pyrosequencing.
BMC Cancer
; 11: 406, 2011 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21943394
9.
Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells.
Front Neurosci
; 15: 636969, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33994920
10.
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
Hum Mutat
; 29(6): 869-78, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18412284
11.
Night blindness and hearing loss associated with choroideremia.
Clin Exp Optom
; : 1-4, 2023 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37349105
12.
Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.
Mol Vis
; 13: 639-48, 2007 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-17515884
13.
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Mol Vis
; 13: 1031-7, 2007 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-17653047
14.
Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene.
Stem Cell Res
; 21: 23-25, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28677533
15.
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
BMC Med Genet
; 7: 35, 2006 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-16597330
16.
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
Mol Vis
; 11: 922-8, 2005 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-16280978
17.
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 44(5): 2171-7, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12714658
18.
High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity.
Front Genet
; 3: 312, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23335937
19.
Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.
J Mol Diagn
; 14(3): 286-93, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22426013
20.
Dopamine genes (DRD2/ANKK1-TaqA1 and DRD4-7R) and executive function: their interaction with obesity.
PLoS One
; 7(7): e41482, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22848508