BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

473 related articles for article (PubMed ID: 35353227)

  • 1. The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
    Delmaghani S; El-Amraoui A
    Hum Genet; 2022 Apr; 141(3-4):709-735. PubMed ID: 35353227
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
    Reiners J; Nagel-Wolfrum K; Jürgens K; Märker T; Wolfrum U
    Exp Eye Res; 2006 Jul; 83(1):97-119. PubMed ID: 16545802
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
    Le Quesne Stabej P; Saihan Z; Rangesh N; Steele-Stallard HB; Ambrose J; Coffey A; Emmerson J; Haralambous E; Hughes Y; Steel KP; Luxon LM; Webster AR; Bitner-Glindzicz M
    J Med Genet; 2012 Jan; 49(1):27-36. PubMed ID: 22135276
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
    Feenstra HM; Al-Khuzaei S; Shah M; Broadgate S; Shanks M; Kamath A; Yu J; Jolly JK; MacLaren RE; Clouston P; Halford S; Downes SM
    Genes (Basel); 2022 Aug; 13(8):. PubMed ID: 36011334
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An update on the genetics of usher syndrome.
    Millán JM; Aller E; Jaijo T; Blanco-Kelly F; Gimenez-Pardo A; Ayuso C
    J Ophthalmol; 2011; 2011():417217. PubMed ID: 21234346
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.
    Eandi CM; Dallorto L; Spinetta R; Micieli MP; Vanzetti M; Mariottini A; Passerini I; Torricelli F; Alovisi C; Marchese C
    Sci Rep; 2017 Nov; 7(1):15681. PubMed ID: 29142287
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
    Stephenson KAJ; Whelan L; Zhu J; Dockery A; Wynne NC; Cairns RM; Kirk C; Turner J; Duignan ES; O'Byrne JJ; Silvestri G; Kenna PF; Farrar GJ; Keegan DJ
    Invest Ophthalmol Vis Sci; 2023 Jul; 64(10):23. PubMed ID: 37466950
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Usher Syndrome.
    Castiglione A; Möller C
    Audiol Res; 2022 Jan; 12(1):42-65. PubMed ID: 35076463
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Review of Genotype-Phenotype Correlations in Usher Syndrome.
    Nisenbaum E; Thielhelm TP; Nourbakhsh A; Yan D; Blanton SH; Shu Y; Koehler KR; El-Amraoui A; Chen Z; Lam BL; Liu X
    Ear Hear; 2022; 43(1):1-8. PubMed ID: 34039936
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel
    D'Esposito F; Randazzo V; Cennamo G; Centore N; Maltese PE; Malesci R; D'Andrea L; Bertelli M; Marciano E; de Crecchio G; Pioppo A; Magli A; Cordeiro MF
    Eur J Ophthalmol; 2021 Mar; 31(2):NP18-NP22. PubMed ID: 31566003
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic Screening of the Usher Syndrome in Cuba.
    Santana EE; Fuster-García C; Aller E; Jaijo T; García-Bohórquez B; García-García G; Millán JM; Lantigua A
    Front Genet; 2019; 10():501. PubMed ID: 31231422
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel mutations in the USH1C gene in Usher syndrome patients.
    Aparisi MJ; García-García G; Jaijo T; Rodrigo R; Graziano C; Seri M; Simsek T; Simsek E; Bernal S; Baiget M; Pérez-Garrigues H; Aller E; Millán JM
    Mol Vis; 2010 Dec; 16():2948-54. PubMed ID: 21203349
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetics of Usher Syndrome: New Insights From a Meta-analysis.
    Jouret G; Poirsier C; Spodenkiewicz M; Jaquin C; Gouy E; Arndt C; Labrousse M; Gaillard D; Doco-Fenzy M; Lebre AS
    Otol Neurotol; 2019 Jan; 40(1):121-129. PubMed ID: 30531642
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
    Ivanova ME; Trubilin VN; Atarshchikov DS; Demchinsky AM; Strelnikov VV; Tanas AS; Orlova OM; Machalov AS; Overchenko KV; Markova TV; Golenkova DM; Anoshkin KI; Volodin IV; Zaletaev DV; Pulin AA; Nadelyaeva II; Kalinkin AI; Barh D
    Ophthalmic Genet; 2018 Dec; 39(6):706-713. PubMed ID: 30358468
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.
    Pater JA; Green J; O'Rielly DD; Griffin A; Squires J; Burt T; Fernandez S; Fernandez B; Houston J; Zhou J; Roslin NM; Young TL
    BMC Med Genet; 2019 May; 20(1):68. PubMed ID: 31046701
    [TBL] [Abstract][Full Text] [Related]  

  • 16. High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
    Fuster-García C; García-García G; Jaijo T; Fornés N; Ayuso C; Fernández-Burriel M; Sánchez-De la Morena A; Aller E; Millán JM
    Sci Rep; 2018 Nov; 8(1):17113. PubMed ID: 30459346
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Current updates on genetic spectrum of usher syndrome.
    Ullah F; Zeeshan Ali M; Ahmad S; Muzammal M; Khan S; Khan J; Ahmad Khan M
    Nucleosides Nucleotides Nucleic Acids; 2024 May; ():1-24. PubMed ID: 38718411
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
    Ebermann I; Scholl HP; Charbel Issa P; Becirovic E; Lamprecht J; Jurklies B; Millán JM; Aller E; Mitter D; Bolz H
    Hum Genet; 2007 Apr; 121(2):203-11. PubMed ID: 17171570
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Disease mechanisms and gene therapy for Usher syndrome.
    Géléoc GGS; El-Amraoui A
    Hear Res; 2020 Sep; 394():107932. PubMed ID: 32199721
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 24.