These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations. Beryozkin A; Zelinger L; Bandah-Rozenfeld D; Harel A; Strom TA; Merin S; Chowers I; Banin E; Sharon D Invest Ophthalmol Vis Sci; 2013 Mar; 54(3):2068-75. PubMed ID: 23449718 [TBL] [Abstract][Full Text] [Related]
4. CRB1 mutation spectrum in inherited retinal dystrophies. den Hollander AI; Davis J; van der Velde-Visser SD; Zonneveld MN; Pierrottet CO; Koenekoop RK; Kellner U; van den Born LI; Heckenlively JR; Hoyng CB; Handford PA; Roepman R; Cremers FP Hum Mutat; 2004 Nov; 24(5):355-69. PubMed ID: 15459956 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. Motta FL; Salles MV; Costa KA; Filippelli-Silva R; Martin RP; Sallum JMF Sci Rep; 2017 Aug; 7(1):8654. PubMed ID: 28819299 [TBL] [Abstract][Full Text] [Related]
7. Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening. Li S; Shen T; Xiao X; Guo X; Zhang Q Int J Mol Med; 2014 Apr; 33(4):913-8. PubMed ID: 24535598 [TBL] [Abstract][Full Text] [Related]
8. CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis. McMahon TT; Kim LS; Fishman GA; Stone EM; Zhao XC; Yee RW; Malicki J Invest Ophthalmol Vis Sci; 2009 Jul; 50(7):3185-7. PubMed ID: 19407021 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice. Pellissier LP; Lundvig DM; Tanimoto N; Klooster J; Vos RM; Richard F; Sothilingam V; Garcia Garrido M; Le Bivic A; Seeliger MW; Wijnholds J Hum Mol Genet; 2014 Jul; 23(14):3759-71. PubMed ID: 24565864 [TBL] [Abstract][Full Text] [Related]
11. Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function. Tosi J; Tsui I; Lima LH; Wang NK; Tsang SH Curr Eye Res; 2009 May; 34(5):395-400. PubMed ID: 19401883 [TBL] [Abstract][Full Text] [Related]
12. Crb1 is a determinant of retinal apical Müller glia cell features. van de Pavert SA; Sanz AS; Aartsen WM; Vos RM; Versteeg I; Beck SC; Klooster J; Seeliger MW; Wijnholds J Glia; 2007 Nov; 55(14):1486-97. PubMed ID: 17705196 [TBL] [Abstract][Full Text] [Related]
13. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hanein S; Perrault I; Gerber S; Tanguy G; Barbet F; Ducroq D; Calvas P; Dollfus H; Hamel C; Lopponen T; Munier F; Santos L; Shalev S; Zafeiriou D; Dufier JL; Munnich A; Rozet JM; Kaplan J Hum Mutat; 2004 Apr; 23(4):306-17. PubMed ID: 15024725 [TBL] [Abstract][Full Text] [Related]
14. A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1. van de Pavert SA; Meuleman J; Malysheva A; Aartsen WM; Versteeg I; Tonagel F; Kamphuis W; McCabe CJ; Seeliger MW; Wijnholds J J Neurosci; 2007 Jan; 27(3):564-73. PubMed ID: 17234588 [TBL] [Abstract][Full Text] [Related]
15. Clinical phenotypes in carriers of Leber congenital amaurosis mutations. Galvin JA; Fishman GA; Stone EM; Koenekoop RK Ophthalmology; 2005 Feb; 112(2):349-56. PubMed ID: 15691574 [TBL] [Abstract][Full Text] [Related]
16. CRB1-associated retinal degeneration is dependent on bacterial translocation from the gut. Peng S; Li JJ; Song W; Li Y; Zeng L; Liang Q; Wen X; Shang H; Liu K; Peng P; Xue W; Zou B; Yang L; Liang J; Zhang Z; Guo S; Chen T; Li W; Jin M; Xing XB; Wan P; Liu C; Lin H; Wei H; Lee RWJ; Zhang F; Wei L Cell; 2024 Mar; 187(6):1387-1401.e13. PubMed ID: 38412859 [TBL] [Abstract][Full Text] [Related]
17. Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials. Jin Y; Li S; Jiang Z; Sun L; Huang L; Zhang T; Liu X; Ding X Invest Ophthalmol Vis Sci; 2024 Mar; 65(3):11. PubMed ID: 38466290 [TBL] [Abstract][Full Text] [Related]
19. Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model. Weatherly SM; Collin GB; Charette JR; Stone L; Damkham N; Hyde LF; Peterson JG; Hicks W; Carter GW; Naggert JK; Krebs MP; Nishina PM PLoS Genet; 2022 Jun; 18(6):e1009798. PubMed ID: 35675330 [TBL] [Abstract][Full Text] [Related]
20. An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. Henderson RH; Waseem N; Searle R; van der Spuy J; Russell-Eggitt I; Bhattacharya SS; Thompson DA; Holder GE; Cheetham ME; Webster AR; Moore AT Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5684-9. PubMed ID: 18055820 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]