Detalhe da pesquisa
1.
Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing.
Clin Genet
; 99(1): 193-198, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32901921
2.
A Prospective, Observational, Non-interventional Clinical Study of Participants With Choroideremia: The NIGHT Study.
Am J Ophthalmol
; 263: 35-49, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38311152
3.
Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.
Acta Ophthalmol
; 101(2): 215-221, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36128853
4.
Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial.
Nat Med
; 29(10): 2464-2472, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814062
5.
CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development.
PLoS Genet
; 5(8): e1000607, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19680541
6.
Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients.
Transl Vis Sci Technol
; 11(1): 6, 2022 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34985506
7.
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
Ophthalmic Genet
; 42(6): 664-673, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34223797
8.
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
Mol Vis
; 15: 1806-18, 2009 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-19753315
9.
Macular spatial distribution of preserved autofluorescence in patients with choroideremia.
Br J Ophthalmol
; 103(7): 933-937, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30297337
10.
Development of a genotyping microarray for Usher syndrome.
J Med Genet
; 44(2): 153-60, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16963483
11.
A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.
Acta Ophthalmol
; 96(2): 183-191, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29068140
12.
A novel CACNA1F gene mutation causes Aland Island eye disease.
Invest Ophthalmol Vis Sci
; 48(6): 2498-502, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17525176
13.
Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.
Am J Ophthalmol
; 179: 110-117, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28499705
14.
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
Nat Commun
; 8(1): 1289, 2017 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097701
15.
Two Finnish USH1B patients with three novel mutations in myosin VIIA.
Mol Vis
; 12: 1093-7, 2006 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-17093394
16.
Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma.
Ophthalmic Genet
; 26(1): 17-23, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15823921
17.
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
Eur J Hum Genet
; 10(6): 339-50, 2002 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12080385
18.
The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study.
Mol Vis
; 9: 217-22, 2003 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-12789137
19.
Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.
JAMA Ophthalmol
; 131(1): 67-74, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22964989
20.
The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.
Gene Expr Patterns
; 13(8): 473-81, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24045267