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337 related items for PubMed ID: 34884448
1. CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms. 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 23; 22(23):. PubMed ID: 34884448 [Abstract] [Full Text] [Related]
2. 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 17; 7(1):8654. PubMed ID: 28819299 [Abstract] [Full Text] [Related]
3. Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype. Quinn PM, Mulder AA, Henrique Alves C, Desrosiers M, de Vries SI, Klooster J, Dalkara D, Koster AJ, Jost CR, Wijnholds J. Hum Mol Genet; 2019 Jan 01; 28(1):105-123. PubMed ID: 30239717 [Abstract] [Full Text] [Related]
4. 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 15; 23(14):3759-71. PubMed ID: 24565864 [Abstract] [Full Text] [Related]
5. Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in Crb1. Boon N, Alves CH, Mulder AA, Andriessen CA, Buck TM, Quinn PMJ, Vos RM, Koster AJ, Jost CR, Wijnholds J. Int J Mol Sci; 2021 Mar 30; 22(7):. PubMed ID: 33808129 [Abstract] [Full Text] [Related]
6. Foveal Hypoplasia in CRB1-Related Retinopathies. Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M. Int J Mol Sci; 2023 Sep 11; 24(18):. PubMed ID: 37762234 [Abstract] [Full Text] [Related]
7. 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 11; 246():107-121. PubMed ID: 36099972 [Abstract] [Full Text] [Related]
8. 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 11; 33(4):913-8. PubMed ID: 24535598 [Abstract] [Full Text] [Related]
12. CRB1 mutations in inherited retinal dystrophies. Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C. Hum Mutat; 2012 Feb 11; 33(2):306-15. PubMed ID: 22065545 [Abstract] [Full Text] [Related]
13. A clinical and molecular characterisation of CRB1-associated maculopathy. Khan KN, Robson A, Mahroo OAR, Arno G, Inglehearn CF, Armengol M, Waseem N, Holder GE, Carss KJ, Raymond LF, Webster AR, Moore AT, McKibbin M, van Genderen MM, Poulter JA, Michaelides M, UK Inherited Retinal Disease Consortium. Eur J Hum Genet; 2018 May 11; 26(5):687-694. PubMed ID: 29391521 [Abstract] [Full Text] [Related]
14. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. Kousal B, Dudakova L, Gaillyova R, Hejtmankova M, Diblik P, Michaelides M, Liskova P. Graefes Arch Clin Exp Ophthalmol; 2016 Sep 11; 254(9):1833-9. PubMed ID: 27113771 [Abstract] [Full Text] [Related]
15. 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 11; 24(5):355-69. PubMed ID: 15459956 [Abstract] [Full Text] [Related]
16. Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies. Yang L, Wu L, Yin X, Chen N, Li G, Ma Z. Mol Vis; 2014 Nov 11; 20():359-67. PubMed ID: 24715753 [Abstract] [Full Text] [Related]
17. Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy. Jalkh N, Guissart C, Chouery E, Yammine T, El Ali N, Farah HA, Mégarbané A. Ophthalmic Genet; 2014 Mar 11; 35(1):57-62. PubMed ID: 23362850 [Abstract] [Full Text] [Related]
18. 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, [LCA5 Study Group (see acknowledgements for Universities), 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 11; 34(11):1537-1546. PubMed ID: 23946133 [Abstract] [Full Text] [Related]
19. CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up. Talib M, Van Cauwenbergh C, De Zaeytijd J, Van Wynsberghe D, De Baere E, Boon CJF, Leroy BP. Br J Ophthalmol; 2022 May 11; 106(5):696-704. PubMed ID: 33579689 [Abstract] [Full Text] [Related]
20. 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 04; 14():262-7. PubMed ID: 18334942 [Abstract] [Full Text] [Related] Page: [Next] [New Search]