Detalhe da pesquisa
1.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Proc Natl Acad Sci U S A
; 119(27): e2115538119, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35759666
2.
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Hum Mutat
; 39(1): 80-91, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28967191
3.
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
Am J Hum Genet
; 90(2): 247-59, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22284829
4.
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.
Hum Mutat
; 35(11): 1354-62, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25168334
5.
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Hum Mol Genet
; 21(16): 3647-54, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22619378
6.
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Am J Hum Genet
; 87(1): 26-39, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20579627
7.
Blue cone monochromacy: causative mutations and associated phenotypes.
Mol Vis
; 15: 876-84, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19421413
8.
Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations.
Invest Ophthalmol Vis Sci
; 59(10): 4238-4248, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30128495
9.
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
Adv Exp Med Biol
; 723: 595-601, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22183383
10.
Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.
Invest Ophthalmol Vis Sci
; 57(8): 3853-63, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27447086
11.
Bone mineral density in sclerosteosis; affected individuals and gene carriers.
J Clin Endocrinol Metab
; 90(12): 6392-5, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16189254
12.
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.
Am J Med Genet
; 110(2): 144-52, 2002 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12116252
13.
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.
PLoS One
; 9(8): e104163, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25093588
14.
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.
Hum Gene Ther
; 24(12): 993-1006, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24067079
15.
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.
Invest Ophthalmol Vis Sci
; 53(13): 8006-15, 2012 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23139274