115 related articles for article (PubMed ID: 36317196)
1.
Kessel L; Bertelsen M; Grønskov K
Ophthalmic Genet; 2022 Dec; 43(6):876-881. PubMed ID: 36317196
[TBL] [Abstract][Full Text] [Related]
2. A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris.
Cehajic-Kapetanovic J; Jasani KM; Shanks M; Clouston P; MacLaren RE
Ophthalmic Genet; 2020 Jun; 41(3):288-292. PubMed ID: 32323592
[TBL] [Abstract][Full Text] [Related]
3. Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.
Cukras C; Gaasterland T; Lee P; Gudiseva HV; Chavali VR; Pullakhandam R; Maranhao B; Edsall L; Soares S; Reddy GB; Sieving PA; Ayyagari R
PLoS One; 2012; 7(11):e50205. PubMed ID: 23189188
[TBL] [Abstract][Full Text] [Related]
4. Large Benefit from Simple Things: High-Dose Vitamin A Improves
Smirnov VM; Wilmet B; Nassisi M; Condroyer C; Antonio A; Andrieu C; Devisme C; Sancho S; Sahel JA; Zeitz C; Audo I
Int J Mol Sci; 2022 Jun; 23(12):. PubMed ID: 35743034
[TBL] [Abstract][Full Text] [Related]
5. Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.
Khan KN; Carss K; Raymond FL; Islam F; Nihr BioResource-Rare Diseases Consortium ; Moore AT; Michaelides M; Arno G
Ophthalmic Genet; 2017; 38(5):465-466. PubMed ID: 27892788
[TBL] [Abstract][Full Text] [Related]
6. Clinical, genetic and biochemical signatures of
Plaisancié J; Martinovic J; Chesneau B; Whalen S; Rodriguez D; Audebert-Bellanger S; Marzin P; Grotto S; Perthus I; Holt RJ; Bax DA; Ragge N; Chassaing N
J Med Genet; 2023 Dec; 61(1):84-92. PubMed ID: 37586836
[TBL] [Abstract][Full Text] [Related]
7. Severe ocular phenotypes in Rbp4-deficient mice in the C57BL/6 genetic background.
Shen J; Shi D; Suzuki T; Xia Z; Zhang H; Araki K; Wakana S; Takeda N; Yamamura K; Jin S; Li Z
Lab Invest; 2016 Jun; 96(6):680-91. PubMed ID: 26974396
[TBL] [Abstract][Full Text] [Related]
8. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Mackay DS; Borman AD; Sui R; van den Born LI; Berson EL; Ocaka LA; Davidson AE; Heckenlively JR; Branham K; Ren H; Lopez I; Maria M; Azam M; Henkes A; Blokland E; Qamar R; Webster AR; Cremers FPM; Moore AT; Koenekoop RK; ; Andreasson S; de Baere E; Bennett J; Chader GJ; Berger W; Golovleva I; Greenberg J; den Hollander AI; Klaver CCW; Klevering BJ; Lorenz B; Preising MN; Ramsear R; Roberts L; Roepman R; Rohrschneider K; Wissinger B
Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
[TBL] [Abstract][Full Text] [Related]
9. Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
Xu Y; Guan L; Xiao X; Zhang J; Li S; Jiang H; Jia X; Yang J; Guo X; Yin Y; Wang J; Zhang Q
Mol Vis; 2015; 21():477-86. PubMed ID: 25999675
[TBL] [Abstract][Full Text] [Related]
10. Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in
Souzeau E; Thompson JA; McLaren TL; De Roach JN; Barnett CP; Lamey TM; Craig JE
Mol Vis; 2018; 24():478-484. PubMed ID: 30090012
[TBL] [Abstract][Full Text] [Related]
11. Early-onset autosomal dominant retinitis pigmentosa with severe hyperopia.
Lam BL; Judisch GF
Am J Ophthalmol; 1991 Apr; 111(4):454-6. PubMed ID: 2012147
[TBL] [Abstract][Full Text] [Related]
12.
Mairot K; Smirnov V; Bocquet B; Labesse G; Arndt C; Defoort-Dhellemmes S; Zanlonghi X; Hamroun D; Denis D; Picot MC; David T; Grunewald O; Pégart M; Huguet H; Roux AF; Kalatzis V; Dhaenens CM; Meunier I
Int J Mol Sci; 2021 Nov; 22(23):. PubMed ID: 34884448
[TBL] [Abstract][Full Text] [Related]
13. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
den Hollander AI; van Lith-Verhoeven JJ; Arends ML; Strom TM; Cremers FP; Hoyng CB
Arch Ophthalmol; 2007 Jul; 125(7):932-5. PubMed ID: 17620573
[TBL] [Abstract][Full Text] [Related]
14. Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy:
Tachibana N; Hosono K; Nomura S; Arai S; Torii K; Kurata K; Sato M; Shimakawa S; Azuma N; Ogata T; Wada Y; Okamoto N; Saitsu H; Nishina S; Hotta Y
Genes (Basel); 2022 Feb; 13(2):. PubMed ID: 35205402
[TBL] [Abstract][Full Text] [Related]
15. Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.
Birtel J; Gliem M; Hess K; Birtel TH; Holz FG; Zechner U; Bolz HJ; Herrmann P
Genes (Basel); 2020 Jan; 11(2):. PubMed ID: 32013026
[TBL] [Abstract][Full Text] [Related]
16. Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
Sun Y; Li W; Li JK; Wang ZS; Bai JY; Xu L; Xing B; Yang W; Wang ZW; Wang LS; He W; Chen F
Mol Genet Genomic Med; 2020 Apr; 8(4):e1184. PubMed ID: 32100970
[TBL] [Abstract][Full Text] [Related]
17. [Molecular exploration of the R91W (RPE65 gene) in Tunisian patients with early onset retinal dystrophy and early onset retinitis pigmentosa].
Chouchene I; Largueche L; Derouiche K; Mabrouk S; Abdelhak S; El Matri L
Tunis Med; 2015 Jul; 93(7):445-8. PubMed ID: 26757501
[TBL] [Abstract][Full Text] [Related]
18. Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.
Burstedt MS; Forsman-Semb K; Golovleva I; Janunger T; Wachtmeister L; Sandgren O
Arch Ophthalmol; 2001 Feb; 119(2):260-7. PubMed ID: 11176989
[TBL] [Abstract][Full Text] [Related]
19. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM; Ikeda Y; Fujita K; Kunikata H; Akiho M; Hashimoto K; Hosono K; Kurata K; Koyanagi Y; Akiyama M; Suzuki T; Kawasaki R; Wada Y; Hotta Y; Sonoda KH; Murakami A; Nakazawa M; Nakazawa T; Abe T
Ophthalmology; 2019 Nov; 126(11):1557-1566. PubMed ID: 31257036
[TBL] [Abstract][Full Text] [Related]
20. Transgenic Mice Overexpressing Serum Retinol-Binding Protein Develop Progressive Retinal Degeneration through a Retinoid-Independent Mechanism.
Du M; Otalora L; Martin AA; Moiseyev G; Vanlandingham P; Wang Q; Farjo R; Yeganeh A; Quiambao A; Farjo KM
Mol Cell Biol; 2015 Aug; 35(16):2771-89. PubMed ID: 26055327
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
