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/vufind/Search/Results?lookfor=%22CNGA3%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
/vufind/Search/Results?lookfor=%22CNGA3%22&type=Subject&sort=year%2C+publishDateDaySort_date+desc%2C+id
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PubPharm (150)
1
Phenotypic characteristics of Danish patients with achromatopsia
enthalten in:
Acta ophthalmologica
| 2024
von
Andersen, M.
|
Bertelsen, M.
|
Gundestrup, S.
| +2
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2
Phenotyping and genotyping inherited retinal diseases : Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes
enthalten in:
Progress in retinal and eye research
| 2024
von
Georgiou, M.
|
Robson, A.
|
Fujinami, K.
| +8
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3
Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Solaki, M.
|
Wissinger, B.
|
Kohl, S.
| +1
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4
Seeing color following gene augmentation therapy in achromatopsia
enthalten in:
Current biology : CB
| 2023
von
McKyton, A.
|
Marks Ohana, D.
|
Nahmany, E.
| +2
CommentIn: Curr Biol. 2023 Sep 11;33(17):R900-R901. - PMID 37699345
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5
Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia
enthalten in:
Genes
| 2023
von
Amaral, R.
|
Motta, F.
|
Zin, O.
| +3
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6
Genetic and Clinical Characterization of Danish Achromatopsia Patients
enthalten in:
Genes
| 2023
von
Andersen, M.
|
Bertelsen, M.
|
Grønskov, K.
| +2
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7
Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing
enthalten in:
Scientific reports
| 2023
von
Reuter, P.
|
Walter, M.
|
Kohl, S.
| +1
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8
Clinical and Genetic Features of Korean Patients with Achromatopsia
enthalten in:
Genes
| 2023
von
Choi, Y.
|
Joo, K.
|
Lim, H.
| +3
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9
Compensatory Cone-Mediated Mechanisms in Inherited Retinal Degeneration Mouse Models : A Functional and Gene Expression Analysis
enthalten in:
Advances in experimental medicine and biology
| 2023
von
Brunet, A.
|
Hunt, D.
|
Mellough, C.
| +2
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10
Safety and efficacy of a bilateral, single injection of a genetically modified virus particle under the retina in adults and children with achromatopsia (an eye disease caused by a defect in the genetic material), investigated in a clinical trial. : Safety and efficacy of a bilateral single subretinal injection of rAAV.hCNGA3 in adult and minor patients with CNGA3-linked achromatopsia investigated in a randomized, wait list controlled, observer-masked trial
enthalten in:
WHO International Clinical Trials Registry Platform
| 2023
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Investigative ophthalmology & visual science
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Thema
137
Journal Article
130
Cyclic Nucleotide-Gated Cation Channels
96
Research Support, Non-U.S. Gov't
77
CNGA3 protein, human
48
Research Support, N.I.H., Extramural
45
Cnga3 protein, mouse
28
CNGB3 protein, human
25
CNGA3
23
achromatopsia
17
Achromatopsia
16
Cyclic GMP
16
Eye Proteins
16
H2D2X058MU
15
EC 3.6.5.1
10
CNGB3
9
Case Reports
9
Cyclic Nucleotide Phosphodiesterases, Type 6
9
EC 3.1.4.35
9
Review
9
Rod Opsins
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