Detalhe da pesquisa
1.
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Am J Hum Genet
; 111(4): 701-713, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531366
2.
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
em Inglês
| MEDLINE | ID: mdl-36243009
3.
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.
Graefes Arch Clin Exp Ophthalmol
; 262(6): 1737-1744, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38206414
4.
Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
Ophthalmic Res
; 67(1): 172-182, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160664
5.
Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.
Ophthalmology
; 130(12): 1327-1335, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37544434
6.
Acute bilateral blindness due to diffuse outer retinopathy following clear lens exchange: a case report.
BMC Ophthalmol
; 23(1): 428, 2023 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37872478
7.
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Int J Mol Sci
; 23(8)2022 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457110
8.
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Hum Mol Genet
; 25(20): 4546-4555, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173158
9.
Bacillary Layer Detachment (BALAD) in Macular Choroidal Metastasis of a Low-grade Rectal Adenocarcinoma.
Klin Monbl Augenheilkd
; 239(4): 582-585, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35472810
10.
GNB1-Related Rod-Cone Dystrophy: A Case Report.
Case Rep Ophthalmol
; 15(1): 230-237, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38500542
11.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Front Cell Dev Biol
; 11: 1112270, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36819107
12.
Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.
Retina
; 32(9): 1942-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22466463
13.
New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family.
Invest Ophthalmol Vis Sci
; 63(3): 23, 2022 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35333290
14.
Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.
Ophthalmic Genet
; 42(6): 773-779, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34310258
15.
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
Hum Mutat
; 31(5): E1361-76, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20232351
16.
Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene.
Mol Vis
; 16: 467-75, 2010 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-20309403
17.
Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms.
Ophthalmic Genet
; 41(1): 73-78, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32124677
18.
Morphological Reconstitution and Persistent Changes After Intravitreal Ocriplasmin for Vitreomacular Traction and Macular Hole.
J Ocul Pharmacol Ther
; 36(2): 126-132, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31934816
19.
Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, 10, 953.
Genes (Basel)
; 11(5)2020 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32375275
20.
Statins in ophthalmology.
Surv Ophthalmol
; 64(3): 401-432, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30703407