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.
Single Center Experience with Voretigene Neparvovec Gene Augmentation Therapy in RPE65 Mutation-Associated Inherited Retinal Degeneration in a Clinical Setting.
Ophthalmology
; 131(2): 161-178, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704110
3.
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network - EVICR.net.
Ophthalmic Res
; 66(1): 550-568, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36592621
4.
Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey.
Ophthalmic Res
; 66(1): 727-748, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36878196
5.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35332618
6.
The Feasibility of Using Ultra-Widefield Retinal Imaging to Identify Ocular Pathologies amongst Those with Systemic Medical Disease Attending a Tertiary Healthcare Facility at a University Hospital.
Ophthalmologica
; 245(5): 455-463, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35977524
7.
[Retinopathy of Prematurity - Update on Classification, Screening, and Therapy]. / Frühgeborenenretinopathie.
Klin Monbl Augenheilkd
; 239(3): 346-363, 2022 Mar.
Artigo
em Alemão
| MEDLINE | ID: mdl-35253129
8.
Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Hum Genet
; 140(8): 1157-1168, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33959807
9.
International Classification of Retinopathy of Prematurity, Third Edition.
Ophthalmology
; 128(10): e51-e68, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34247850
10.
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.
Ophthalmic Res
; 64(4): 622-638, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465765
11.
Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.
Ophthalmic Res
; 64(5): 740-753, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33684911
12.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genet Med
; 22(3): 598-609, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31700164
13.
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
FASEB J
; 33(10): 11507-11527, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31345061
14.
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
Brain
; 142(6): 1528-1534, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31009037
15.
[Fluorescence Angiography-assisted Management of Recurrences in Aggressive Posterior Retinopathy of Prematurity (APROP) after Intravitreal Monotherapy with 0.312 mg Bevacizumab]. / Fluoreszenzangiografieassistiertes Management von Rezidiven bei aggressiver posteriorer Frühgeborenenretinopathie (APROP) nach intravitrealer Monotherapie mit 0,312 mg Bevacizumab.
Klin Monbl Augenheilkd
; 237(12): 1468-1476, 2020 Dec.
Artigo
em Alemão
| MEDLINE | ID: mdl-31770787
16.
Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS).
Neuroophthalmology
; 44(6): 413-414, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33408429
17.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Hum Mutat
; 40(8): 1145-1155, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058429
18.
16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.
Clin Genet
; 96(1): 85-90, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31044419
19.
High-dose Anderson operation for nystagmus-related anomalous head turn.
Graefes Arch Clin Exp Ophthalmol
; 257(9): 2033-2041, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31201488
20.
Splitting of the lateral rectus muscle with medial transposition to treat oculomotor palsy: a retrospective analysis of 29 consecutive cases.
Graefes Arch Clin Exp Ophthalmol
; 257(9): 2005-2014, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31172264