BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

381 related articles for article (PubMed ID: 23940504)

  • 1. Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
    Corton M; Nishiguchi KM; Avila-Fernández A; Nikopoulos K; Riveiro-Alvarez R; Tatu SD; Ayuso C; Rivolta C
    PLoS One; 2013; 8(6):e65574. PubMed ID: 23940504
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
    Glöckle N; Kohl S; Mohr J; Scheurenbrand T; Sprecher A; Weisschuh N; Bernd A; Rudolph G; Schubach M; Poloschek C; Zrenner E; Biskup S; Berger W; Wissinger B; Neidhardt J
    Eur J Hum Genet; 2014 Jan; 22(1):99-104. PubMed ID: 23591405
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
    Méndez-Vidal C; González-Del Pozo M; Vela-Boza A; Santoyo-López J; López-Domingo FJ; Vázquez-Marouschek C; Dopazo J; Borrego S; Antiñolo G
    Mol Vis; 2013; 19():2187-95. PubMed ID: 24227914
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
    Han J; Rim JH; Hwang IS; Kim J; Shin S; Lee ST; Choi JR
    Mol Vis; 2017; 23():649-659. PubMed ID: 28966547
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
    Huang L; Zhang Q; Li S; Guan L; Xiao X; Zhang J; Jia X; Sun W; Zhu Z; Gao Y; Yin Y; Wang P; Guo X; Wang J; Zhang Q
    PLoS One; 2013; 8(6):e65546. PubMed ID: 23776498
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.
    Jonsson F; Burstedt MS; Sandgren O; Norberg A; Golovleva I
    Eur J Hum Genet; 2013 Nov; 21(11):1266-71. PubMed ID: 23443024
    [TBL] [Abstract][Full Text] [Related]  

  • 8. High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.
    Song F; Owczarek-Lipska M; Ahmels T; Book M; Aisenbrey S; Menghini M; Barthelmes D; Schrader S; Spital G; Neidhardt J
    Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440443
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
    Li S; Huang L; Xiao X; Jia X; Guo X; Zhang Q
    JAMA Ophthalmol; 2014 Sep; 132(9):1076-83. PubMed ID: 24903488
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
    Xu Y; Guan L; Xiao X; Zhang J; Li S; Jiang H; Jia X; Yang J; Guo X; Yin Y; Wang J; Zhang Q
    Mol Vis; 2015; 21():477-86. PubMed ID: 25999675
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hereditary Retinal Dystrophy.
    Hohman TC
    Handb Exp Pharmacol; 2017; 242():337-367. PubMed ID: 28035529
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
    Skorczyk-Werner A; Sowińska-Seidler A; Wawrocka A; Walczak-Sztulpa J; Krawczyński MR
    J Appl Genet; 2023 Feb; 64(1):89-104. PubMed ID: 36369640
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.
    Ganapathi M; Thomas-Wilson A; Buchovecky C; Dharmadhikari A; Barua S; Lee W; Ruan MZC; Soucy M; Ragi S; Tanaka J; Clark LN; Naini AB; Liao J; Mansukhani M; Tsang S; Jobanputra V
    Sci Rep; 2022 Jun; 12(1):9358. PubMed ID: 35672425
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.
    Shen C; You B; Chen YN; Li Y; Li W; Wei WB
    Mol Vis; 2022; 28():96-113. PubMed ID: 35814500
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families.
    Tehreem R; Chen I; Shah MR; Li Y; Khan MA; Afshan K; Chen R; Firasat S
    Genes (Basel); 2022 Sep; 13(9):. PubMed ID: 36140798
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.
    Bocquet B; Lacroux A; Surget MO; Baudoin C; Marquette V; Manes G; Hebrard M; Sénéchal A; Delettre C; Roux AF; Claustres M; Dhaenens CM; Rozet JM; Perrault I; Bonnefont JP; Kaplan J; Dollfus H; Amati-Bonneau P; Bonneau D; Reynier P; Audo I; Zeitz C; Sahel JA; Paquis-Flucklinger V; Calvas P; Arveiler B; Kohl S; Wissinger B; Blanchet C; Meunier I; Hamel CP
    Ophthalmic Epidemiol; 2013; 20(1):13-25. PubMed ID: 23350551
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.
    Riveiro-Alvarez R; Vallespin E; Wilke R; Garcia-Sandoval B; Cantalapiedra D; Aguirre-Lamban J; Avila-Fernandez A; Gimenez A; Trujillo-Tiebas MJ; Ayuso C
    Mol Vis; 2008 Feb; 14():262-7. PubMed ID: 18334942
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
    Skorczyk-Werner A; Niedziela Z; Stopa M; Krawczyński MR
    Orphanet J Rare Dis; 2020 Dec; 15(1):345. PubMed ID: 33308271
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.