292 related articles for article (PubMed ID: 24535598)
21. CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
Yzer S; Fishman GA; Racine J; Al-Zuhaibi S; Chakor H; Dorfman A; Szlyk J; Lachapelle P; van den Born LI; Allikmets R; Lopez I; Cremers FP; Koenekoop RK
Invest Ophthalmol Vis Sci; 2006 Sep; 47(9):3736-44. PubMed ID: 16936081
[TBL] [Abstract][Full Text] [Related]
22. Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options.
Hasan SM; Azmeh A; Mostafa O; Megarbane A
BMC Res Notes; 2016 Feb; 9():91. PubMed ID: 26872607
[TBL] [Abstract][Full Text] [Related]
23. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
Yzer S; Leroy BP; De Baere E; de Ravel TJ; Zonneveld MN; Voesenek K; Kellner U; Ciriano JP; de Faber JT; Rohrschneider K; Roepman R; den Hollander AI; Cruysberg JR; Meire F; Casteels I; van Moll-Ramirez NG; Allikmets R; van den Born LI; Cremers FP
Invest Ophthalmol Vis Sci; 2006 Mar; 47(3):1167-76. PubMed ID: 16505055
[TBL] [Abstract][Full Text] [Related]
24. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
Vallespin E; Cantalapiedra D; Riveiro-Alvarez R; Wilke R; Aguirre-Lamban J; Avila-Fernandez A; Lopez-Martinez MA; Gimenez A; Trujillo-Tiebas MJ; Ramos C; Ayuso C
Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5653-61. PubMed ID: 18055816
[TBL] [Abstract][Full Text] [Related]
25. [Genotype-Phenotype Correlations in Patients with CRB1 Mutations].
Papadopoulou Laiou C; Preising MN; Bolz HJ; Lorenz B
Klin Monbl Augenheilkd; 2017 Mar; 234(3):289-302. PubMed ID: 28355663
[No Abstract] [Full Text] [Related]
26.
Grudzinska Pechhacker MK; Di Scipio M; Vig A; Tumber A; Roslin N; Tavares E; Vincent A; Hèon E
Ophthalmic Genet; 2020 Oct; 41(5):457-464. PubMed ID: 32689861
[TBL] [Abstract][Full Text] [Related]
27. DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1.
Alsulaiman HM; Schatz P; Nowilaty SR; Abdelkader E; Abu Safieh L
Retin Cases Brief Rep; 2020; 14(2):203-210. PubMed ID: 29200130
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.
Li L; Xiao X; Li S; Jiao X; Hejtmancik JF; Zhang Q
Mol Vis; 2011; 17():3326-32. PubMed ID: 22219627
[TBL] [Abstract][Full Text] [Related]
30. Retinal capillaritis in a CRB1-associated retinal dystrophy.
Murro V; Mucciolo DP; Sodi A; Vannozzi L; De Libero C; Simonini G; Rizzo S
Ophthalmic Genet; 2017 Dec; 38(6):555-558. PubMed ID: 28129017
[TBL] [Abstract][Full Text] [Related]
31. Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.
Vámos R; Külm M; Szabó V; Ahman A; Lesch B; Schneider M; Varsányi B; Nagy ZZ; Németh J; Farkas Á
Eur J Ophthalmol; 2016; 26(1):78-84. PubMed ID: 26165328
[TBL] [Abstract][Full Text] [Related]
32. CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Daich Varela M; Georgiou M; Alswaiti Y; Kabbani J; Fujinami K; Fujinami-Yokokawa Y; Khoda S; Mahroo OA; Robson AG; Webster AR; AlTalbishi A; Michaelides M
Am J Ophthalmol; 2023 Feb; 246():107-121. PubMed ID: 36099972
[TBL] [Abstract][Full Text] [Related]
33. Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.
Riveiro-Alvarez R; Vallespin E; Wilke R; Garcia-Sandoval B; Cantalapiedra D; Aguirre-Lamban J; Avila-Fernandez A; Gimenez A; Trujillo-Tiebas MJ; Ayuso C
Mol Vis; 2008 Feb; 14():262-7. PubMed ID: 18334942
[TBL] [Abstract][Full Text] [Related]
34. High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Corton M; Tatu SD; Avila-Fernandez A; Vallespín E; Tapias I; Cantalapiedra D; Blanco-Kelly F; Riveiro-Alvarez R; Bernal S; García-Sandoval B; Baiget M; Ayuso C
Orphanet J Rare Dis; 2013 Feb; 8():20. PubMed ID: 23379534
[TBL] [Abstract][Full Text] [Related]
35. CRB1 maculopathy presenting as fenestrated sheen macular dystrophy with 15-year follow-up.
Oh DJ; Daily MJ; Grassi MA
Doc Ophthalmol; 2021 Jun; 142(3):381-388. PubMed ID: 33387055
[TBL] [Abstract][Full Text] [Related]
36. A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
Abouzeid H; Li Y; Maumenee IH; Dharmaraj S; Sundin O
Ophthalmic Genet; 2006 Mar; 27(1):15-20. PubMed ID: 16543197
[TBL] [Abstract][Full Text] [Related]
37. Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
Arno G; Hull S; Robson AG; Holder GE; Cheetham ME; Webster AR; Plagnol V; Moore AT
Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2358-65. PubMed ID: 25766589
[TBL] [Abstract][Full Text] [Related]
38. Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing.
Lu L; Wang X; Lo D; Weng J; Liu X; Yang J; He F; Wang Y; Liu X
Oncotarget; 2016 Nov; 7(48):79797-79804. PubMed ID: 27806333
[TBL] [Abstract][Full Text] [Related]
39. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
Bouzidi A; Charif M; Bouzidi A; Amalou G; Kandil M; Barakat A; Lenaers G
Mol Vis; 2021; 27():17-25. PubMed ID: 33633436
[TBL] [Abstract][Full Text] [Related]
40. Overlapping retinal phenotypes in a consanguineous family harboring mutations in CRB1 and RS1.
Khan AO; El-Ghrably IA
Ophthalmic Genet; 2019 Feb; 40(1):17-21. PubMed ID: 30608181
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]