BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

190 related articles for article (PubMed ID: 24670872)

  • 21. Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.
    Corton M; Avila-Fernández A; Campello L; Sánchez M; Benavides B; López-Molina MI; Fernández-Sánchez L; Sánchez-Alcudia R; da Silva LRJ; Reyes N; Martín-Garrido E; Zurita O; Fernández-San José P; Pérez-Carro R; García-García F; Dopazo J; García-Sandoval B; Cuenca N; Ayuso C
    Sci Rep; 2016 Oct; 6():35370. PubMed ID: 27734943
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.
    Zhang L; Sun Z; Zhao P; Huang L; Xu M; Yang Y; Chen X; Lu F; Zhang X; Wang H; Zhang S; Liu W; Jiang Z; Ma S; Chen R; Zhao C; Yang Z; Sui R; Zhu X
    Hum Mol Genet; 2018 Dec; 27(23):4157-4168. PubMed ID: 30085091
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
    Méndez-Vidal C; Bravo-Gil N; González-Del Pozo M; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G
    BMC Genet; 2014 Dec; 15():143. PubMed ID: 25494902
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
    Van de Sompele S; Smith C; Karali M; Corton M; Van Schil K; Peelman F; Cherry T; Rosseel T; Verdin H; Derolez J; Van Laethem T; Khan KN; McKibbin M; Toomes C; Ali M; Torella A; Testa F; Jimenez B; Simonelli F; De Zaeytijd J; Van den Ende J; Leroy BP; Coppieters F; Ayuso C; Inglehearn CF; Banfi S; De Baere E
    Genet Med; 2019 Jun; 21(6):1319-1329. PubMed ID: 30377383
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
    Zhou Y; Saikia BB; Jiang Z; Zhu X; Liu Y; Huang L; Kim R; Yang Y; Qu C; Hao F; Gong B; Tai Z; Niu L; Yang Z; Sundaresan P; Zhu X
    J Hum Genet; 2015 Oct; 60(10):625-30. PubMed ID: 26246154
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
    Beheshtian M; Saee Rad S; Babanejad M; Mohseni M; Hashemi H; Eshghabadi A; Hajizadeh F; Akbari MR; Kahrizi K; Riazi Esfahani M; Najmabadi H
    Arch Iran Med; 2015 Nov; 18(11):776-85. PubMed ID: 26497376
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
    Liu YP; Bosch DG; Siemiatkowska AM; Rendtorff ND; Boonstra FN; Möller C; Tranebjærg L; Katsanis N; Cremers FP
    Ophthalmic Genet; 2017; 38(2):127-132. PubMed ID: 27029556
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Generation of three human iPSC lines from a retinitis pigmentosa family with SLC7A14 mutation.
    Li YP; Liu H; Jin ZB
    Stem Cell Res; 2020 Dec; 49():102075. PubMed ID: 33207307
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.
    Pach J; Kohl S; Gekeler F; Zobor D
    Mol Vis; 2013; 19():1350-5. PubMed ID: 23805042
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa.
    Yi Z; Ouyang J; Sun W; Li S; Xiao X; Zhang Q
    EBioMedicine; 2020 Jun; 56():102792. PubMed ID: 32454406
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.
    Evans DR; Green JS; Johnson GJ; Schwartzentruber J; Majewski J; Beaulieu CL; Qin W; Marshall CR; Paton TA; Roslin NM; Paterson AD; Fahiminiya S; French J; Boycott KM; Woods MO;
    Invest Ophthalmol Vis Sci; 2017 Mar; 58(3):1736-1742. PubMed ID: 28324114
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Wheel running exercise protects against retinal degeneration in the I307N rhodopsin mouse model of inducible autosomal dominant retinitis pigmentosa.
    Zhang X; Girardot PE; Sellers JT; Li Y; Wang J; Chrenek MA; Wu W; Skelton H; Nickerson JM; Pardue MT; Boatright JH
    Mol Vis; 2019; 25():462-476. PubMed ID: 31523123
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
    Collin RW; Safieh C; Littink KW; Shalev SA; Garzozi HJ; Rizel L; Abbasi AH; Cremers FP; den Hollander AI; Klevering BJ; Ben-Yosef T
    Am J Hum Genet; 2010 May; 86(5):783-8. PubMed ID: 20398884
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.
    Wang F; Li H; Xu M; Li H; Zhao L; Yang L; Zaneveld JE; Wang K; Li Y; Sui R; Chen R
    Invest Ophthalmol Vis Sci; 2014 Dec; 56(1):150-5. PubMed ID: 25477324
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa.
    Barragan I; Marcos I; Borrego S; Antiñolo G
    Int J Mol Med; 2005 Dec; 16(6):1163-7. PubMed ID: 16273301
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization.
    Mullins RF; Kuehn MH; Radu RA; Enriquez GS; East JS; Schindler EI; Travis GH; Stone EM
    Invest Ophthalmol Vis Sci; 2012 Apr; 53(4):1883-94. PubMed ID: 22395892
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
    van den Hurk JA; Rashbass P; Roepman R; Davis J; Voesenek KE; Arends ML; Zonneveld MN; van Roekel MH; Cameron K; Rohrschneider K; Heckenlively JR; Koenekoop RK; Hoyng CB; Cremers FP; den Hollander AI
    Mol Vis; 2005 Apr; 11():263-73. PubMed ID: 15851977
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa.
    Sullivan LS; Heckenlively JR; Bowne SJ; Zuo J; Hide WA; Gal A; Denton M; Inglehearn CF; Blanton SH; Daiger SP
    Nat Genet; 1999 Jul; 22(3):255-9. PubMed ID: 10391212
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.
    Thompson DA; Khan NW; Othman MI; Chang B; Jia L; Grahek G; Wu Z; Hiriyanna S; Nellissery J; Li T; Khanna H; Colosi P; Swaroop A; Heckenlively JR
    PLoS One; 2012; 7(5):e35865. PubMed ID: 22563472
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
    McLaughlin ME; Ehrhart TL; Berson EL; Dryja TP
    Proc Natl Acad Sci U S A; 1995 Apr; 92(8):3249-53. PubMed ID: 7724547
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.