Detalhe da pesquisa
1.
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Am J Hum Genet
; 109(11): 2029-2048, 2022 11 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36243009
2.
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
Hum Mol Genet
; 30(13): 1218-1229, 2021 06 17.
Artigo
Inglês
| MEDLINE | ID: mdl-33891002
3.
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Ophthalmology
; 129(2): 191-202, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34624300
4.
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study.
Retina
; 41(1): 213-223, 2021 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32301896
5.
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.
Int J Mol Sci
; 21(3)2020 Jan 28.
Artigo
Inglês
| MEDLINE | ID: mdl-32012938
6.
CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.
Retina
; 39(6): 1186-1199, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29528978
7.
LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION.
Retina
; 38(9): 1713-1724, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28937528
8.
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
Ophthalmology
; 124(6): 884-895, 2017 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28341475
9.
LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.
Retina
; 37(1): 161-172, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27380427
10.
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
Ophthalmology
; 123(5): 1151-60, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26927203
11.
WHITE ANNULAR RETINAL DYSTROPHY WITH SEVERE GLAUCOMA: A New Autosomal Dominant Condition.
Retina
; 36(3): 619-23, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26539796
12.
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Nat Genet
; 39(9): 1068-70, 2007 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-17660820
13.
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A.
Am J Ophthalmol Case Rep
; 34: 102070, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38756953
14.
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
Ophthalmology
; 120(4): 809-20, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23290749
15.
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
Ophthalmology
; 120(10): 2072-81, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23714322
16.
Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study.
Acta Ophthalmol
; 2023 Sep 25.
Artigo
Inglês
| MEDLINE | ID: mdl-37749859
17.
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis.
Ophthalmol Retina
; 2023 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38104928
18.
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
HGG Adv
; 4(2): 100181, 2023 04 13.
Artigo
Inglês
| MEDLINE | ID: mdl-36785559
19.
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Am J Hum Genet
; 85(2): 240-7, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19615668
20.
A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
Ophthalmology
; 119(9): 1899-906, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22559933