BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 28118666)

  • 1. Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease.
    Huang XF; Mao JY; Huang ZQ; Rao FQ; Cheng FF; Li FF; Wang QF; Jin ZB
    Invest Ophthalmol Vis Sci; 2017 Jan; 58(1):424-429. PubMed ID: 28118666
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
    Van Schil K; Naessens S; Van de Sompele S; Carron M; Aslanidis A; Van Cauwenbergh C; Kathrin Mayer A; Van Heetvelde M; Bauwens M; Verdin H; Coppieters F; Greenberg ME; Yang MG; Karlstetter M; Langmann T; De Preter K; Kohl S; Cherry TJ; Leroy BP; ; De Baere E
    Genet Med; 2018 Feb; 20(2):202-213. PubMed ID: 28749477
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Screening copy number variations in 35 unsolved inherited retinal disease families.
    Liu X; Dai H; Li G; Jia R; Meng X; Yu S; Yang L; Hong J
    Hum Genet; 2024 Feb; 143(2):197-210. PubMed ID: 38282009
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
    Zampaglione E; Kinde B; Place EM; Navarro-Gomez D; Maher M; Jamshidi F; Nassiri S; Mazzone JA; Finn C; Schlegel D; Comander J; Pierce EA; Bujakowska KM
    Genet Med; 2020 Jun; 22(6):1079-1087. PubMed ID: 32037395
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.
    González-Del Pozo M; Martín-Sánchez M; Bravo-Gil N; Méndez-Vidal C; Chimenea Á; Rodríguez-de la Rúa E; Borrego S; Antiñolo G
    Sci Rep; 2018 Sep; 8(1):13312. PubMed ID: 30190494
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
    Roberts L; Ratnapriya R; du Plessis M; Chaitankar V; Ramesar RS; Swaroop A
    Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6374-6381. PubMed ID: 27898983
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Copy number variations in a population-based study of Charcot-Marie-Tooth disease.
    Høyer H; Braathen GJ; Eek AK; Nordang GB; Skjelbred CF; Russell MB
    Biomed Res Int; 2015; 2015():960404. PubMed ID: 25648254
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes.
    Hayman T; Millo T; Hendler K; Chowers I; Gross M; Banin E; Sharon D
    J Med Genet; 2024 Feb; 61(3):224-231. PubMed ID: 37798099
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.
    Gupta PR; Kheir W; Peng B; Duan J; Chiang JP; Iannaccone A
    Mol Vis; 2022; 28():203-219. PubMed ID: 36284670
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
    Bujakowska KM; Fernandez-Godino R; Place E; Consugar M; Navarro-Gomez D; White J; Bedoukian EC; Zhu X; Xie HM; Gai X; Leroy BP; Pierce EA
    Genet Med; 2017 Jun; 19(6):643-651. PubMed ID: 27735924
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study.
    Sokolowski M; Wasserman J; Wasserman D
    PLoS One; 2016; 11(12):e0168531. PubMed ID: 28030616
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Highly Specific Genome-Wide Association Study Integrated with Transcriptome Data Reveals the Contribution of Copy Number Variations to Specialized Metabolites in Arabidopsis thaliana Accessions.
    Shirai K; Matsuda F; Nakabayashi R; Okamoto M; Tanaka M; Fujimoto A; Shimizu M; Shinozaki K; Seki M; Saito K; Hanada K
    Mol Biol Evol; 2017 Dec; 34(12):3111-3122. PubMed ID: 28961930
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Copy number variations in the genome of the Qatari population.
    Fakhro KA; Yousri NA; Rodriguez-Flores JL; Robay A; Staudt MR; Agosto-Perez F; Salit J; Malek JA; Suhre K; Jayyousi A; Zirie M; Stadler D; Mezey JG; Crystal RG
    BMC Genomics; 2015 Oct; 16():834. PubMed ID: 26490036
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.
    Ellingford JM; Horn B; Campbell C; Arno G; Barton S; Tate C; Bhaskar S; Sergouniotis PI; Taylor RL; Carss KJ; Raymond LFL; Michaelides M; Ramsden SC; Webster AR; Black GCM
    J Med Genet; 2018 Feb; 55(2):114-121. PubMed ID: 29074561
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Copy Number Variation in
    Wang Y; Li L; Yang Y; Feng J; Wang L; Zhang H
    Genet Test Mol Biomarkers; 2020 Apr; 24(4):173-180. PubMed ID: 32208937
    [No Abstract]   [Full Text] [Related]  

  • 16. Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
    Maggi J; Koller S; Bähr L; Feil S; Kivrak Pfiffner F; Hanson JVM; Maspoli A; Gerth-Kahlert C; Berger W
    Int J Mol Sci; 2021 Feb; 22(4):. PubMed ID: 33546218
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
    Liu J; Zhou Y; Liu S; Song X; Yang XZ; Fan Y; Chen W; Akdemir ZC; Yan Z; Zuo Y; Du R; Liu Z; Yuan B; Zhao S; Liu G; Chen Y; Zhao Y; Lin M; Zhu Q; Niu Y; Liu P; Ikegawa S; Song YQ; Posey JE; Qiu G; ; Zhang F; Wu Z; Lupski JR; Wu N
    Hum Genet; 2018 Jul; 137(6-7):553-567. PubMed ID: 30019117
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability.
    Chen X; Li H; Chen C; Zhou L; Xu X; Xiang Y; Tang S
    Mol Diagn Ther; 2018 Dec; 22(6):749-757. PubMed ID: 30259421
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees.
    Fanciulli M; Pasini E; Malacrida S; Striano P; Striano S; Michelucci R; Ottman R; Nobile C
    Epilepsia; 2014 Oct; 55(10):1651-8. PubMed ID: 25243798
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Candidate predisposing germline copy number variants in early onset colorectal cancer patients.
    Brea-Fernandez AJ; Fernandez-Rozadilla C; Alvarez-Barona M; Azuara D; Ginesta MM; Clofent J; de Castro L; Gonzalez D; Andreu M; Bessa X; Llor X; Xicola R; Jover R; Castells A; Castellvi-Bel S; Capella G; Carracedo A; Ruiz-Ponte C
    Clin Transl Oncol; 2017 May; 19(5):625-632. PubMed ID: 27888432
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.