BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

259 related articles for article (PubMed ID: 30160356)

  • 21. Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
    Méjécase C; Laurent-Coriat C; Mayer C; Poch O; Mohand-Saïd S; Prévot C; Antonio A; Boyard F; Condroyer C; Michiels C; Blanchard S; Letexier M; Saraiva JP; Sahel JA; Audo I; Zeitz C
    PLoS One; 2016; 11(12):e0168271. PubMed ID: 27977773
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
    Katagiri S; Hayashi T; Yoshitake K; Akahori M; Ikeo K; Gekka T; Tsuneoka H; Iwata T
    Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
    Khan AO; Budde BS; Nürnberg P; Kawalia A; Lenzner S; Bolz HJ
    Clin Genet; 2018 Jan; 93(1):149-154. PubMed ID: 28369829
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
    Arno G; Hull S; Robson AG; Holder GE; Cheetham ME; Webster AR; Plagnol V; Moore AT
    Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2358-65. PubMed ID: 25766589
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
    Coppieters F; Van Schil K; Bauwens M; Verdin H; De Jaegher A; Syx D; Sante T; Lefever S; Abdelmoula NB; Depasse F; Casteels I; de Ravel T; Meire F; Leroy BP; De Baere E
    Genet Med; 2014 Sep; 16(9):671-80. PubMed ID: 24625443
    [TBL] [Abstract][Full Text] [Related]  

  • 27. A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.
    Avela K; Sankila EM; Seitsonen S; Kuuluvainen L; Barton S; Gillies S; Aittomäki K
    Acta Ophthalmol; 2018 Mar; 96(2):183-191. PubMed ID: 29068140
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Homozygous and heterozygous retinal phenotypes in families harbouring
    Khan AO; Al Teneiji AM
    Ophthalmic Genet; 2019 Jun; 40(3):247-251. PubMed ID: 31264916
    [No Abstract]   [Full Text] [Related]  

  • 29. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
    Zou X; Fu Q; Fang S; Li H; Ge Z; Yang L; Xu M; Sun Z; Li H; Li Y; Dong F; Chen R; Sui R
    Retina; 2019 Oct; 39(10):2040-2052. PubMed ID: 30134391
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
    Khan KN; El-Asrag ME; Ku CA; Holder GE; McKibbin M; Arno G; Poulter JA; Carss K; Bommireddy T; Bagheri S; Bakall B; Scholl HP; Raymond FL; Toomes C; Inglehearn CF; Pennesi ME; Moore AT; Michaelides M; Webster AR; Ali M;
    Invest Ophthalmol Vis Sci; 2017 Jun; 58(7):2906-2914. PubMed ID: 28586915
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.
    Wei C; Yang L; Cheng J; Imani S; Fu S; Lv H; Li Y; Chen R; Leung EL; Fu J
    BMC Med Genet; 2018 Jun; 19(1):99. PubMed ID: 29890953
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.
    Van Schil K; Meire F; Karlstetter M; Bauwens M; Verdin H; Coppieters F; Scheiffert E; Van Nechel C; Langmann T; Deconinck N; De Baere E
    Genet Med; 2015 Apr; 17(4):291-9. PubMed ID: 25122145
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile.
    Ye P; Xu J; Luo Y; Su Z; Yao K
    BMC Med Genet; 2020 Jan; 21(1):16. PubMed ID: 31969119
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
    Verbakel SK; van Huet RAC; den Hollander AI; Geerlings MJ; Kersten E; Klevering BJ; Klaver CCW; Plomp AS; Wesseling NL; Bergen AAB; Nikopoulos K; Rivolta C; Ikeda Y; Sonoda KH; Wada Y; Boon CJF; Nakazawa T; Hoyng CB; Nishiguchi KM
    Invest Ophthalmol Vis Sci; 2019 Mar; 60(4):1192-1203. PubMed ID: 30913292
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.
    Shen RJ; Wang JG; Li Y; Jin ZB
    Orphanet J Rare Dis; 2021 Jun; 16(1):278. PubMed ID: 34130719
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.
    Singh HP; Jalali S; Hejtmancik JF; Kannabiran C
    Am J Ophthalmol; 2006 May; 141(5):906-13. PubMed ID: 16546111
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Clinical characteristics of early retinal disease due to CDHR1 mutation.
    Ba-Abbad R; Sergouniotis PI; Plagnol V; Robson AG; Michaelides M; Holder GE; Webster AR
    Mol Vis; 2013; 19():2250-9. PubMed ID: 24265541
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.
    Liang J; She X; Chen J; Zhai Y; Liu Y; Zheng K; Gong Y; Zhu H; Luo X; Sun X
    Graefes Arch Clin Exp Ophthalmol; 2019 Mar; 257(3):619-628. PubMed ID: 30588538
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.