BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

436 related articles for article (PubMed ID: 15459956)

  • 21. CRB1: one gene, many phenotypes.
    Ehrenberg M; Pierce EA; Cox GF; Fulton AB
    Semin Ophthalmol; 2013; 28(5-6):397-405. PubMed ID: 24138049
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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; 35(1):57-62. PubMed ID: 23362850
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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; 20():359-67. PubMed ID: 24715753
    [TBL] [Abstract][Full Text] [Related]  

  • 25. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.
    Mehalow AK; Kameya S; Smith RS; Hawes NL; Denegre JM; Young JA; Bechtold L; Haider NB; Tepass U; Heckenlively JR; Chang B; Naggert JK; Nishina PM
    Hum Mol Genet; 2003 Sep; 12(17):2179-89. PubMed ID: 12915475
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Composition and function of the Crumbs protein complex in the mammalian retina.
    Gosens I; den Hollander AI; Cremers FP; Roepman R
    Exp Eye Res; 2008 May; 86(5):713-26. PubMed ID: 18407265
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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; 28(1):105-123. PubMed ID: 30239717
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
    Zernant J; Külm M; Dharmaraj S; den Hollander AI; Perrault I; Preising MN; Lorenz B; Kaplan J; Cremers FP; Maumenee I; Koenekoop RK; Allikmets R
    Invest Ophthalmol Vis Sci; 2005 Sep; 46(9):3052-9. PubMed ID: 16123401
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
    Guo X; Li J; Wang Q; Shu Y; Wang J; Chen L; Zhang H; Shi Y; Yang J; Lu F; Jiang L; Qu C; Gong B
    Mol Med Rep; 2019 Sep; 20(3):2922-2928. PubMed ID: 31322236
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum.
    Saberi M; Golchehre Z; Karamzade A; Entezam M; Eshaghkhani Y; Alavinejad E; Khojasteh Jafari H; Keramatipour M
    Iran Biomed J; 2019 Sep; 23(5):362-8. PubMed ID: 31103025
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in
    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; 22(7):. PubMed ID: 33808129
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. 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]  

  • 36. Microglial Cell Dysfunction in CRB1-Associated Retinopathies.
    Alves CH; Wijnholds J
    Adv Exp Med Biol; 2019; 1185():159-163. PubMed ID: 31884605
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure.
    van de Pavert SA; Kantardzhieva A; Malysheva A; Meuleman J; Versteeg I; Levelt C; Klooster J; Geiger S; Seeliger MW; Rashbass P; Le Bivic A; Wijnholds J
    J Cell Sci; 2004 Aug; 117(Pt 18):4169-77. PubMed ID: 15316081
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
    Pelletier V; Jambou M; Delphin N; Zinovieva E; Stum M; Gigarel N; Dollfus H; Hamel C; Toutain A; Dufier JL; Roche O; Munnich A; Bonnefont JP; Kaplan J; Rozet JM
    Hum Mutat; 2007 Jan; 28(1):81-91. PubMed ID: 16969763
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.
    Vallespin E; Cantalapiedra D; Riveiro-Alvarez R; Aguirre-Lamban J; Avila-Fernandez A; Martinez MA; Gimenez A; Trujillo-Tiebas MJ; Ayuso C
    Hum Genet; 2007 Sep; 122(2):212. PubMed ID: 18386368
    [No Abstract]   [Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 22.