Search details
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.
Article
in English
| MEDLINE | ID: mdl-35759666
2.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Hum Mutat
; 43(7): 832-858, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35332618
3.
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.
Mol Vis
; 28: 21-28, 2022.
Article
in English
| MEDLINE | ID: mdl-35400991
4.
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.
Int J Mol Sci
; 23(12)2022 Jun 20.
Article
in English
| MEDLINE | ID: mdl-35743313
5.
Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia.
Int J Mol Sci
; 22(15)2021 Jul 22.
Article
in English
| MEDLINE | ID: mdl-34360608
6.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Hum Mutat
; 41(1): 255-264, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31544997
7.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Hum Mutat
; 40(8): 1145-1155, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31058429
8.
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Hum Mutat
; 38(11): 1579-1591, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28795510
9.
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
Mol Vis
; 21: 236-43, 2015.
Article
in English
| MEDLINE | ID: mdl-25802487
10.
Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.
Mol Vis
; 20: 178-82, 2014.
Article
in English
| MEDLINE | ID: mdl-24520187
11.
Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
Mol Vis
; 20: 1732-9, 2014.
Article
in English
| MEDLINE | ID: mdl-25558176
12.
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Hum Mol Genet
; 20(10): 1893-905, 2011 May 15.
Article
in English
| MEDLINE | ID: mdl-21349918
13.
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
Proc Natl Acad Sci U S A
; 106(46): 19581-6, 2009 Nov 17.
Article
in English
| MEDLINE | ID: mdl-19887631
14.
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Hum Mutat
; 32(12): 1398-406, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-21882291
15.
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.
Hum Mutat
; 31(7): 830-9, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20506298
16.
Multiexon deletion alleles of ATF6 linked to achromatopsia.
JCI Insight
; 5(7)2020 04 09.
Article
in English
| MEDLINE | ID: mdl-32271167
17.
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.
NPJ Genom Med
; 9(1): 28, 2024 May 04.
Article
in English
| MEDLINE | ID: mdl-38704370
18.
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
Hum Mutat
; 29(10): 1228-36, 2008 Oct.
Article
in English
| MEDLINE | ID: mdl-18521937
19.
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).
Eur J Neurosci
; 27(9): 2391-401, 2008 May.
Article
in English
| MEDLINE | ID: mdl-18445228
20.
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
Invest Ophthalmol Vis Sci
; 49(2): 751-7, 2008 Feb.
Article
in English
| MEDLINE | ID: mdl-18235024