Detalles de la búsqueda
1.
Microbiome and Inherited Retinal Degenerations.
Am J Pathol;
193(11): 1669-1674, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37024045
2.
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
Ophthalmology;
130(4): 423-432, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36332842
3.
Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.
Hum Mutat;
43(5): 613-624, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35266249
4.
Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.
Mol Vis;
28: 203-219, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36284670
5.
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Am J Med Genet A;
185(12): 3717-3727, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34331386
6.
Increased Protein Citrullination as a Trigger for Resident Immune System Activation, Intraretinal Inflammation, and Promotion of Anti-retinal Autoimmunity: Intersecting Paths in Retinal Degenerations of Potential Therapeutic Relevance.
Adv Exp Med Biol;
1185: 175-179, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31884608
7.
Retinal pigment epithelium and microglia express the CD5 antigen-like protein, a novel autoantigen in age-related macular degeneration.
Exp Eye Res;
155: 64-74, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27989757
8.
A pilot investigation of audiovisual processing and multisensory integration in patients with inherited retinal dystrophies.
BMC Ophthalmol;
17(1): 240, 2017 Dec 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29212538
9.
Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene.
Doc Ophthalmol;
130(2): 157-64, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25555363
10.
Macular pigment optical density is related to cognitive function in older people.
Age Ageing;
43(2): 271-5, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24435852
11.
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
J Med Genet;
50(10): 674-88, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23847139
12.
Gene-agnostic approaches to treating inherited retinal degenerations.
Front Cell Dev Biol;
11: 1177838, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37123404
13.
The double-edged sword of inflammation in inherited retinal degenerations: Clinical and preclinical evidence for mechanistically and prognostically impactful but treatable complications.
Front Cell Dev Biol;
11: 1177711, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37123408
14.
Autoimmune-Related Retinopathy Presenting As Plaquenil Toxicity in Patients With Systemic Lupus Erythematosus.
J Vitreoretin Dis;
7(6): 521-527, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37974912
15.
Bilateral paraneoplastic optic neuropathy and unilateral retinal compromise in association with prostate cancer: a differential diagnostic challenge in a patient with unexplained visual loss.
Doc Ophthalmol;
125(1): 63-70, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22569848
16.
Intravitreal Delivery of rAAV2tYF-CB-hRS1 Vector for Gene Augmentation Therapy in Patients with X-Linked Retinoschisis: 1-Year Clinical Results.
Ophthalmol Retina;
6(12): 1130-1144, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35781068
17.
The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene.
Invest Ophthalmol Vis Sci;
63(3): 17, 2022 03 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35293952
18.
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.
Am J Ophthalmol;
244: 98-116, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36007554
19.
Interspecies Correlations between Human and Mouse NR2E3-Associated Recessive Disease.
J Clin Med;
10(3)2021 Jan 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-33513943
20.
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.
Invest Ophthalmol Vis Sci;
62(7): 27, 2021 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34185059