BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

94 related articles for article (PubMed ID: 29283788)

  • 1. Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data.
    DuPont M; Jones EM; Xu M; Chen R
    Ophthalmic Genet; 2018 Apr; 39(2):291-292. PubMed ID: 29283788
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
    Bernal S; Ayuso C; Antiñolo G; Gimenez A; Borrego S; Trujillo MJ; Marcos I; Calaf M; Del Rio E; Baiget M
    J Med Genet; 2003 Jan; 40(1):e8. PubMed ID: 12525556
    [No Abstract]   [Full Text] [Related]  

  • 3. The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.
    Han JH; Cancellieri F; Perea-Romero I; Ayuso C; Quinodoz M; Rivolta C
    Ophthalmic Res; 2024; 67(1):107-114. PubMed ID: 38016437
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
    Aller E; Nájera C; Millán JM; Oltra JS; Pérez-Garrigues H; Vilela C; Navea A; Beneyto M
    Eur J Hum Genet; 2004 May; 12(5):407-10. PubMed ID: 14970843
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.
    Pozo MG; Bravo-Gil N; Méndez-Vidal C; Montero-de-Espinosa I; Millán JM; Dopazo J; Borrego S; Antiñolo G
    Am J Med Genet A; 2015 Jul; 167(7):1597-600. PubMed ID: 25823529
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
    Seyedahmadi BJ; Rivolta C; Keene JA; Berson EL; Dryja TP
    Exp Eye Res; 2004 Aug; 79(2):167-73. PubMed ID: 15325563
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.
    Liu XZ; Hope C; Liang CY; Zou JM; Xu LR; Cole T; Mueller RF; Bundey S; Nance W; Steel KP; Brown SD
    Am J Hum Genet; 1999 Apr; 64(4):1221-5. PubMed ID: 10090909
    [No Abstract]   [Full Text] [Related]  

  • 8. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
    Pierrache LH; Hartel BP; van Wijk E; Meester-Smoor MA; Cremers FP; de Baere E; de Zaeytijd J; van Schooneveld MJ; Cremers CW; Dagnelie G; Hoyng CB; Bergen AA; Leroy BP; Pennings RJ; van den Born LI; Klaver CC
    Ophthalmology; 2016 May; 123(5):1151-60. PubMed ID: 26927203
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome.
    Hmani-Aifa M; Ben Arab S; Kharrat K; Orten DJ; Boulila-Elgaied A; Drira M; Hachicha S; Kimberling WJ; Ayadi H
    J Med Genet; 2002 Apr; 39(4):281-3. PubMed ID: 11950859
    [No Abstract]   [Full Text] [Related]  

  • 10. Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa.
    Sanjurjo-Soriano C; Erkilic N; Vache C; Dubois G; Roux AF; Meunier I; Kalatzis V
    Stem Cell Res; 2022 Apr; 60():102738. PubMed ID: 35248879
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutational spectrum in Usher syndrome type II.
    Ouyang XM; Hejtmancik JF; Jacobson SG; Li AR; Du LL; Angeli S; Kaiser M; Balkany T; Liu XZ
    Clin Genet; 2004 Apr; 65(4):288-93. PubMed ID: 15025721
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
    Oishi M; Oishi A; Gotoh N; Ogino K; Higasa K; Iida K; Makiyama Y; Morooka S; Matsuda F; Yoshimura N
    Invest Ophthalmol Vis Sci; 2014 Oct; 55(11):7369-75. PubMed ID: 25324289
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.
    Kaiserman N; Obolensky A; Banin E; Sharon D
    Arch Ophthalmol; 2007 Feb; 125(2):219-24. PubMed ID: 17296898
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Multimodal imaging and genetic characteristics of Chinese patients with USH2A-associated nonsyndromic retinitis pigmentosa.
    Chen C; Sun Q; Gu M; Qian T; Luo D; Liu K; Xu X; Yu S
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1479. PubMed ID: 32893482
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical heterogeneity in a family with mutations in USH2A.
    Lenassi E; Robson AG; Luxon LM; Bitner-Glindzicz M; Webster AR
    JAMA Ophthalmol; 2015 Mar; 133(3):352-5. PubMed ID: 25521520
    [No Abstract]   [Full Text] [Related]  

  • 16. Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.
    Nagase Y; Kurata K; Hosono K; Suto K; Hikoya A; Nakanishi H; Mizuta K; Mineta H; Minoshima S; Hotta Y
    Semin Ophthalmol; 2018; 33(4):560-565. PubMed ID: 28678594
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Generation of an iPS cell line via a non-integrative method using urine-derived cells from a patient with USH2A-associated retinitis pigmentosa.
    Guo Y; Zeng Q; Liu S; Yu Q; Wang P; Ma H; Shi S; Yan X; Cui Z; Xie M; Xue Y; Zha Q; Li Z; Zhang J; Tang S; Chen J
    Stem Cell Res; 2018 May; 29():139-142. PubMed ID: 29660607
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of novel USH2A mutations: implications for the structure of USH2A protein.
    Dreyer B; Tranebjaerg L; Rosenberg T; Weston MD; Kimberling WJ; Nilssen O
    Eur J Hum Genet; 2000 Jul; 8(7):500-6. PubMed ID: 10909849
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutations in MYO7A and USH2A in Usher syndrome.
    Maubaret C; Griffoin JM; Arnaud B; Hamel C
    Ophthalmic Genet; 2005 Mar; 26(1):25-9. PubMed ID: 15823922
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
    Nájera C; Beneyto M; Blanca J; Aller E; Fontcuberta A; Millán JM; Ayuso C
    Hum Mutat; 2002 Jul; 20(1):76-7. PubMed ID: 12112664
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.