Detalhe da pesquisa
1.
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
2.
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
3.
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.
Int J Mol Sci
; 21(3)2020 Jan 28.
Artigo
Inglês
| MEDLINE | ID: mdl-32012938
4.
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
5.
The Phenotypic Spectrum of Albinism.
Ophthalmology
; 125(12): 1953-1960, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30098354
6.
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
7.
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
8.
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
9.
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 331-9, 2012 Feb 10.
Artigo
Inglês
| MEDLINE | ID: mdl-22325362
10.
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.
Eur J Hum Genet
; 2024 May 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38806661
11.
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.
Clin Obes
; : e12661, 2024 Apr 10.
Artigo
Inglês
| MEDLINE | ID: mdl-38596856
12.
Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis.
Ophthalmol Retina
; 8(6): 600-606, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38104928
13.
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
Ophthalmology
; 120(4): 809-20, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23290749
14.
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
15.
Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level.
Graefes Arch Clin Exp Ophthalmol
; 251(1): 221-34, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22865259
16.
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
Am J Hum Genet
; 85(5): 730-6, 2009 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-19896109
17.
Cone-rod dystrophy can be a manifestation of Danon disease.
Graefes Arch Clin Exp Ophthalmol
; 250(5): 769-74, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22290069
18.
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Invest Ophthalmol Vis Sci
; 63(1): 19, 2022 01 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35029636
19.
CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials.
Am J Ophthalmol
; 234: 37-48, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34320374
20.
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Ophthalmol Retina
; 6(8): 711-722, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35314386