adenine has been researched along with Pigmentary Retinopathy in 6 studies
Excerpt | Relevance | Reference |
---|---|---|
"To report a Japanese patient with Oguchi disease and sectoral retinitis pigmentosa harboring a homozygous adenine deletion at position 1147 (1147delA) in the arrestin gene." | 7.70 | Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene. ( Fujii, S; Nakamachi, Y; Nakamura, M; Okubo, K; Yamamoto, M, 1998) |
"To report a Japanese patient with Oguchi disease and sectoral retinitis pigmentosa harboring a homozygous adenine deletion at position 1147 (1147delA) in the arrestin gene." | 3.70 | Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene. ( Fujii, S; Nakamachi, Y; Nakamura, M; Okubo, K; Yamamoto, M, 1998) |
"Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset." | 1.34 | Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa. ( Aguirre-Lamban, J; Avila-Fernandez, A; Ayuso, C; Cantalapiedra, D; Lopez-Martinez, MA; Riveiro-Alvarez, R; Trujillo-Tiebas, MJ; Vallespin, E; Villaverde, C, 2007) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 3 (50.00) | 18.2507 |
2000's | 2 (33.33) | 29.6817 |
2010's | 1 (16.67) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Athanasiou, D | 1 |
Aguila, M | 1 |
Bellingham, J | 1 |
Kanuga, N | 1 |
Adamson, P | 1 |
Cheetham, ME | 1 |
Yzer, S | 1 |
van den Born, LI | 1 |
Zonneveld, MN | 1 |
Lopez, I | 1 |
Ayyagari, R | 1 |
Teye-Botchway, L | 1 |
Mota-Vieira, L | 1 |
Cremers, FP | 1 |
Koenekoop, RK | 1 |
Vallespin, E | 1 |
Lopez-Martinez, MA | 1 |
Cantalapiedra, D | 1 |
Riveiro-Alvarez, R | 1 |
Aguirre-Lamban, J | 1 |
Avila-Fernandez, A | 1 |
Villaverde, C | 1 |
Trujillo-Tiebas, MJ | 1 |
Ayuso, C | 2 |
Nakamachi, Y | 1 |
Nakamura, M | 1 |
Fujii, S | 1 |
Yamamoto, M | 1 |
Okubo, K | 1 |
Smith, PR | 1 |
Bain, SC | 1 |
Good, PA | 1 |
Hattersley, AT | 1 |
Barnett, AH | 1 |
Gibson, JM | 1 |
Dodson, PM | 1 |
Trujillo, MJ | 1 |
Millán, JM | 1 |
Nájera, C | 1 |
Beneyto, M | 1 |
García-Sandoval, B | 1 |
Rodriguez de Alba, M | 1 |
Sanz, R | 1 |
6 other studies available for adenine and Pigmentary Retinopathy
Article | Year |
---|---|
The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa.
Topics: Adenine; Animals; Cell Line, Transformed; Cell Line, Tumor; Disease Models, Animal; eIF-2 Kinase; En | 2017 |
Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.
Topics: Adenine; Adult; ATP-Binding Cassette Transporters; Cytosine; Female; Fundus Oculi; Genes, Recessive; | 2007 |
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
Topics: Adenine; Age of Onset; Antigens, Neoplasm; Blindness; Cell Cycle Proteins; Cohort Studies; Cytoskele | 2007 |
Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene.
Topics: Adenine; Arrestin; Electroretinography; Fundus Oculi; Gene Deletion; Humans; Male; Middle Aged; Nigh | 1998 |
Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.
Topics: Adenine; Adult; Aged; Aged, 80 and over; Deafness; Diabetes Mellitus, Type 2; DNA, Mitochondrial; El | 1999 |
Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online.
Topics: Adenine; Cytosine; Guanine; Humans; Point Mutation; Retinitis Pigmentosa; Rhodopsin; Thymine | 1998 |