BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

102 related articles for article (PubMed ID: 18487367)

  • 1. Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
    Kitiratschky VB; Wilke R; Renner AB; Kellner U; Vadalà M; Birch DG; Wissinger B; Zrenner E; Kohl S
    Invest Ophthalmol Vis Sci; 2008 Nov; 49(11):5015-23. PubMed ID: 18487367
    [TBL] [Abstract][Full Text] [Related]  

  • 2. STK25 is a critical determinant in nonalcoholic steatohepatitis.
    Amrutkar M; Chursa U; Kern M; Nuñez-Durán E; Ståhlman M; Sütt S; Borén J; Johansson BR; Marschall HU; Blüher M; Mahlapuu M
    FASEB J; 2016 Oct; 30(10):3628-3643. PubMed ID: 27421788
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
    Kelsell RE; Gregory-Evans K; Payne AM; Perrault I; Kaplan J; Yang RB; Garbers DL; Bird AC; Moore AT; Hunt DM
    Hum Mol Genet; 1998 Jul; 7(7):1179-84. PubMed ID: 9618177
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
    Boulanger-Scemama E; El Shamieh S; Démontant V; Condroyer C; Antonio A; Michiels C; Boyard F; Saraiva JP; Letexier M; Souied E; Mohand-Saïd S; Sahel JA; Zeitz C; Audo I
    Orphanet J Rare Dis; 2015 Jun; 10():85. PubMed ID: 26103963
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
    Alapati A; Goetz K; Suk J; Navani M; Al-Tarouti A; Jayasundera T; Tumminia SJ; Lee P; Ayyagari R
    Invest Ophthalmol Vis Sci; 2014 Jul; 55(9):5510-21. PubMed ID: 25082885
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
    Shanks ME; Downes SM; Copley RR; Lise S; Broxholme J; Hudspith KA; Kwasniewska A; Davies WI; Hankins MW; Packham ER; Clouston P; Seller A; Wilkie AO; Taylor JC; Ragoussis J; Németh AH
    Eur J Hum Genet; 2013 Mar; 21(3):274-80. PubMed ID: 22968130
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genes and mutations in autosomal dominant cone and cone-rod dystrophy.
    Kohl S; Kitiratschky V; Papke M; Schaich S; Sauer A; Wissinger B
    Adv Exp Med Biol; 2012; 723():337-43. PubMed ID: 22183351
    [No Abstract]   [Full Text] [Related]  

  • 8. Bilateral Symmetry of Visual Function Loss in Cone-Rod Dystrophies.
    Galli-Resta L; Falsini B; Rossi G; Piccardi M; Ziccardi L; Fadda A; Minnella A; Marangoni D; Placidi G; Campagna F; Abed E; Bertelli M; Zuntini M; Resta G
    Invest Ophthalmol Vis Sci; 2016 Jul; 57(8):3759-68. PubMed ID: 27415794
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.
    Huang L; Xiao X; Li S; Jia X; Wang P; Sun W; Xu Y; Xin W; Guo X; Zhang Q
    Exp Eye Res; 2016 May; 146():252-258. PubMed ID: 26992781
    [TBL] [Abstract][Full Text] [Related]  

  • 10. GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.
    Jiang F; Xu K; Zhang X; Xie Y; Bai F; Li Y
    Doc Ophthalmol; 2015 Oct; 131(2):105-14. PubMed ID: 26298565
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.
    Jin X; Qu LH; Meng XH; Xu HW; Yin ZQ
    Mol Vis; 2014; 20():553-60. PubMed ID: 24791140
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family.
    Xiao X; Guo X; Jia X; Li S; Wang P; Zhang Q
    Mol Vis; 2011; 17():3271-8. PubMed ID: 22194653
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
    Wang F; Wang H; Tuan HF; Nguyen DH; Sun V; Keser V; Bowne SJ; Sullivan LS; Luo H; Zhao L; Wang X; Zaneveld JE; Salvo JS; Siddiqui S; Mao L; Wheaton DK; Birch DG; Branham KE; Heckenlively JR; Wen C; Flagg K; Ferreyra H; Pei J; Khan A; Ren H; Wang K; Lopez I; Qamar R; Zenteno JC; Ayala-Ramirez R; Buentello-Volante B; Fu Q; Simpson DA; Li Y; Sui R; Silvestri G; Daiger SP; Koenekoop RK; Zhang K; Chen R
    Hum Genet; 2014 Mar; 133(3):331-45. PubMed ID: 24154662
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.
    Zhao X; Ren Y; Zhang X; Chen C; Dong B; Li Y
    Mol Vis; 2013; 19():1039-46. PubMed ID: 23734073
    [TBL] [Abstract][Full Text] [Related]  

  • 16. GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference?
    Zobor D; Zrenner E; Wissinger B; Kohl S; Jägle H
    Retina; 2014 Aug; 34(8):1576-87. PubMed ID: 24875811
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Occult Macular Dysfunction Syndrome: Identification of Multiple Pathologies in a Clinical Spectrum of Macular Dysfunction with Normal Fundus in East Asian Patients: EAOMD Report No. 5.
    Fujinami-Yokokawa Y; Yang L; Joo K; Tsunoda K; Liu X; Kondo M; Ahn SJ; Li H; Park KH; Tachimori H; Miyata H; Woo SJ; Sui R; Fujinami K
    Genes (Basel); 2023 Sep; 14(10):. PubMed ID: 37895218
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.
    Scopelliti AJ; Jamieson RV; Barnes EH; Nash B; Rajagopalan S; Cornish EL; Grigg JR
    Doc Ophthalmol; 2023 Dec; 147(3):189-201. PubMed ID: 37775646
    [TBL] [Abstract][Full Text] [Related]  

  • 20. cGMP Signaling in Photoreceptor Degeneration.
    Li S; Ma H; Yang F; Ding X
    Int J Mol Sci; 2023 Jul; 24(13):. PubMed ID: 37446378
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.