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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38206414
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35457110
3.
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Int J Mol Sci
; 22(24)2021 Dec 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34948090
4.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30825406
5.
Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.
Ophthalmology
; 123(9): 1865-73, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27320518
6.
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 90(2): 321-30, 2012 Feb 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-22325361
7.
Long-term follow-up of two patients with oligocone trichromacy.
Doc Ophthalmol
; 131(2): 149-58, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26138751
8.
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
Am J Med Genet A
; 164A(6): 1537-44, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24668847
9.
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet
; 85(5): 720-9, 2009 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-19896113
10.
Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation.
Ophthalmic Genet
; 40(4): 365-368, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31438752
11.
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.
Ophthalmic Genet
; 40(2): 161-164, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30942644
12.
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.
Br J Ophthalmol
; 103(9): 1239-1247, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-30472657
13.
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.
Sci Rep
; 8(1): 6840, 2018 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29717154
14.
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.
Sci Rep
; 6: 32544, 2016 09 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27601084
15.
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
Am J Ophthalmol
; 160(2): 364-372.e1, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25982971
16.
Resolution of acute acquired comitant esotropia after suboccipital decompression for Chiari I malformation.
Am J Ophthalmol
; 133(5): 723-5, 2002 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-11992882
17.
Extreme myopia in a family with a missense PAX6 mutation: extended phenotype.
Ophthalmic Genet
; 40(1): 64-65, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30592234
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