BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 37510321)

  • 1. A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.
    Areblom M; Kjellström S; Andréasson S; Öhberg A; Gränse L; Kjellström U
    Genes (Basel); 2023 Jul; 14(7):. PubMed ID: 37510321
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
    Conti GM; Vaclavik V; Rivolta C; Escher P; Schorderet DF; Munier FL; Tran HV
    Ophthalmic Res; 2024; 67(1):172-182. PubMed ID: 38160664
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.
    Ramkumar HL; Gudiseva HV; Kishaba KT; Suk JJ; Verma R; Tadimeti K; Thorson JA; Ayyagari R
    Genet Test Mol Biomarkers; 2017 Feb; 21(2):66-73. PubMed ID: 28005406
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of
    Sung YC; Yang CH; Yang CM; Lin CW; Huang DS; Huang YS; Hu FR; Chen PL; Chen TC
    Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33261146
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
    Perea-Romero I; Gordo G; Iancu IF; Del Pozo-Valero M; Almoguera B; Blanco-Kelly F; Carreño E; Jimenez-Rolando B; Lopez-Rodriguez R; Lorda-Sanchez I; Martin-Merida I; Pérez de Ayala L; Riveiro-Alvarez R; Rodriguez-Pinilla E; Tahsin-Swafiri S; Trujillo-Tiebas MJ; ; ; ; Garcia-Sandoval B; Minguez P; Avila-Fernandez A; Corton M; Ayuso C
    Sci Rep; 2021 Jan; 11(1):1526. PubMed ID: 33452396
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
    Sen P; Srikrupa N; Maitra P; Srilekha S; Porkodi P; Gnanasekaran H; Bhende M; Khetan V; Mathavan S; Bhende P; Ratra D; Raman R; Rao C; Sripriya S
    Indian J Ophthalmol; 2023 Jun; 71(6):2512-2520. PubMed ID: 37322672
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
    Huang XF; Huang F; Wu KC; Wu J; Chen J; Pang CP; Lu F; Qu J; Jin ZB
    Genet Med; 2015 Apr; 17(4):271-8. PubMed ID: 25356976
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.
    Kamenarova K; Mihova K; Veleva N; Mermeklieva E; Mihaylova B; Dimitrova G; Oscar A; Shandurkov I; Cherninkova S; Kaneva R
    Mol Genet Genomic Med; 2022 Aug; 10(8):e1997. PubMed ID: 35656873
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies].
    Liu XZ; Li YY; Yang LP
    Beijing Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 52(5):836-844. PubMed ID: 33047716
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic spectrum of retinal dystrophies in Tunisia.
    Habibi I; Falfoul Y; Turki A; Hassairi A; El Matri K; Chebil A; Schorderet DF; El Matri L
    Sci Rep; 2020 Jul; 10(1):11199. PubMed ID: 32641690
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.
    Kuruvilla SE; Song E; Raoof N; van Bysterveldt K; Oliver VF; Hong SC; Al-Taie R; Wilson G; Vincent AL
    Clin Exp Ophthalmol; 2023; 51(4):300-312. PubMed ID: 36882936
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Relative frequency of inherited retinal dystrophies in Brazil.
    Motta FL; Martin RP; Filippelli-Silva R; Salles MV; Sallum JMF
    Sci Rep; 2018 Oct; 8(1):15939. PubMed ID: 30374144
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.
    Duzkale N; Arslan U
    Ophthalmic Genet; 2021 Dec; 42(6):674-684. PubMed ID: 34315337
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Inherited retinal dystrophies in a Kuwaiti tribe.
    Pandova MG; Abduljalil T; Elshafey AE; Abdelmoaty SMA; Albastawisy HI; Bastaki LA; Alsaleh H; Kozak I; AlMerjan JI
    Ophthalmic Genet; 2022 Aug; 43(4):438-445. PubMed ID: 35272565
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
    Bernardis I; Chiesi L; Tenedini E; Artuso L; Percesepe A; Artusi V; Simone ML; Manfredini R; Camparini M; Rinaldi C; Ciardella A; Graziano C; Balducci N; Tranchina A; Cavallini GM; Pietrangelo A; Marigo V; Tagliafico E
    Biomed Res Int; 2016; 2016():6341870. PubMed ID: 28127548
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.
    Zhu T; Shen Y; Sun Z; Han X; Wei X; Li W; Lu C; Cheng T; Zou X; Li H; Cao Z; Gao H; Ma X; Luo M; Sui R
    Am J Ophthalmol; 2023 Apr; 248():96-106. PubMed ID: 36493848
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genotypic profile and phenotype correlations of
    Joo K; Seong MW; Park KH; Park SS; Woo SJ
    Mol Vis; 2019; 25():679-690. PubMed ID: 31814693
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
    Murro V; Banfi S; Testa F; Iarossi G; Falsini B; Sodi A; Signorini S; Iolascon A; Russo R; Mucciolo DP; Caputo R; Bacci GM; Bargiacchi S; Turco S; Fortini S; Simonelli F
    Orphanet J Rare Dis; 2023 Jul; 18(1):223. PubMed ID: 37525225
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
    Wawrocka A; Skorczyk-Werner A; Wicher K; Niedziela Z; Ploski R; Rydzanicz M; Sykulski M; Kociecki J; Weisschuh N; Kohl S; Biskup S; Wissinger B; Krawczynski MR
    Mol Vis; 2018; 24():326-339. PubMed ID: 29769798
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.
    Villafuerte-de la Cruz RA; Garza-Garza LA; Garza-Leon M; Rodriguez-De la Torre C; Parra-Bernal C; Vazquez-Camas I; Ramos-Gonzalez D; Rangel-Padilla A; Espino Barros-Palau A; Nava-García J; Castillo-Velazquez J; Castillo-De Leon E; Del Valle-Penella A; Valdez-Garcia JE; Rojas-Martinez A
    BMC Ophthalmol; 2024 Feb; 24(1):60. PubMed ID: 38347443
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.