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Journal Abstract Search

191 related items for PubMed ID: 33387055

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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; 106(5):696-704. PubMed ID: 33579689
    [Abstract] [Full Text] [Related]

  • 3. Long-term follow-up of a CRB1-associated maculopathy.
    Mucciolo DP, Murro V, Giorgio D, Passerini I, Sodi A, Virgili G, Rizzo S.
    Ophthalmic Genet; 2018 Aug; 39(4):522-525. PubMed ID: 29869924
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients.
    Oh DJ, Sheth V, Fishman GA, Grassi MA.
    J Vitreoretin Dis; 2020 Oct 23; 4(5):437-440. PubMed ID: 33029571
    [Abstract] [Full Text] [Related]

  • 6. 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 23; 246():107-121. PubMed ID: 36099972
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. 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]

  • 10. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS.
    Ophthalmic Genet; 2014 Sep 17; 35(3):130-7. PubMed ID: 23767994
    [Abstract] [Full Text] [Related]

  • 11. Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.
    Tsang SH, Burke T, Oll M, Yzer S, Lee W, Xie YA, Allikmets R.
    Ophthalmology; 2014 Sep 17; 121(9):1773-82. PubMed ID: 24811962
    [Abstract] [Full Text] [Related]

  • 12. 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 17; 26(5):687-694. PubMed ID: 29391521
    [Abstract] [Full Text] [Related]

  • 13. Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.
    Roshandel D, Thompson JA, Heath Jeffery RC, Sampson DM, Chelva E, McLaren TL, Lamey TM, De Roach JN, Durkin SR, Chen FK.
    Transl Vis Sci Technol; 2021 Feb 05; 10(2):38. PubMed ID: 34003923
    [Abstract] [Full Text] [Related]

  • 14. 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 05; 8():20. PubMed ID: 23379534
    [Abstract] [Full Text] [Related]

  • 15. 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 Feb 05; 20():359-67. PubMed ID: 24715753
    [Abstract] [Full Text] [Related]

  • 16. 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 05; 254(9):1833-9. PubMed ID: 27113771
    [Abstract] [Full Text] [Related]

  • 17. 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 05; 47(9):3736-44. PubMed ID: 16936081
    [Abstract] [Full Text] [Related]

  • 18. Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis.
    Cheng Z, Hagan R, Yeo DCM.
    Ophthalmic Genet; 2022 Apr 05; 43(2):253-257. PubMed ID: 34783605
    [Abstract] [Full Text] [Related]

  • 19. Generation of the human iPSC line ESi082-A from a patient with macular dystrophy associated to mutations in the CRB1 gene.
    Cañibano-Hernández A, Valdes-Sanchez L, Garcia-Delgado AB, Ponte-Zúñiga B, Diaz-Corrales FJ, de la Cerda B.
    Stem Cell Res; 2021 May 05; 53():102301. PubMed ID: 33773389
    [Abstract] [Full Text] [Related]

  • 20. 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]

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