BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 9624053)

  • 1. Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
    Eudy JD; Weston MD; Yao S; Hoover DM; Rehm HL; Ma-Edmonds M; Yan D; Ahmad I; Cheng JJ; Ayuso C; Cremers C; Davenport S; Moller C; Talmadge CB; Beisel KW; Tamayo M; Morton CC; Swaroop A; Kimberling WJ; Sumegi J
    Science; 1998 Jun; 280(5370):1753-7. PubMed ID: 9624053
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
    Weston MD; Eudy JD; Fujita S; Yao S; Usami S; Cremers C; Greenberg J; Ramesar R; Martini A; Moller C; Smith RJ; Sumegi J; Kimberling WJ
    Am J Hum Genet; 2000 Apr; 66(4):1199-210. PubMed ID: 10729113
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease.
    Huang D; Eudy JD; Uzvolgyi E; Davis JR; Talmadge CB; Pretto D; Weston MD; Lehman JE; Zhou M; Seemayer TA; Ahmad I; Kimberling WJ; Sumegi J
    Genomics; 2002 Aug; 80(2):195-203. PubMed ID: 12160733
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
    Rivolta C; Sweklo EA; Berson EL; Dryja TP
    Am J Hum Genet; 2000 Jun; 66(6):1975-8. PubMed ID: 10775529
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Further refinement of the Usher 2A locus at 1q41.
    Bessant DA; Payne AM; Plant C; Bird AC; Bhattacharya SS
    J Med Genet; 1998 Sep; 35(9):773-4. PubMed ID: 9733039
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
    Leroy BP; Aragon-Martin JA; Weston MD; Bessant DA; Willis C; Webster AR; Bird AC; Kimberling WJ; Payne AM; Bhattacharya SS
    Exp Eye Res; 2001 May; 72(5):503-9. PubMed ID: 11311042
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
    van Wijk E; Pennings RJ; te Brinke H; Claassen A; Yntema HG; Hoefsloot LH; Cremers FP; Cremers CW; Kremer H
    Am J Hum Genet; 2004 Apr; 74(4):738-44. PubMed ID: 15015129
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Homozygosity mapping to the USH2A locus in two isolated populations.
    Fagerheim T; Raeymaekers P; Merren J; Mani K; Jha GK; Baumbach L; Brox V; Breines E; Holdø BE; Holdø A; Tranebjaerg L
    J Med Genet; 1999 Feb; 36(2):144-7. PubMed ID: 10051015
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.
    Adato A; Weston MD; Berry A; Kimberling WJ; Bonne-Tamir A
    Hum Mutat; 2000 Apr; 15(4):388. PubMed ID: 10738000
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hearing loss in the RBF/DnJ mouse, a proposed animal model of Usher syndrome type IIa.
    Pieke-Dahl S; Ohlemiller KK; McGee J; Walsh EJ; Kimberling WJ
    Hear Res; 1997 Oct; 112(1-2):1-12. PubMed ID: 9367224
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
    Beneyto MM; Cuevas JM; Millán JM; Espinós C; Mateu E; González-Cabo P; Baiget M; Doménech M; Bernal S; Ayuso C; García-Sandoval B; Trujillo MJ; Borrego S; Antiñolo G; Carballo M; Nájera C
    Ophthalmic Genet; 2000 Jun; 21(2):123-8. PubMed ID: 10916187
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic heterogeneity of Usher syndrome type II in a Dutch population.
    Pieke-Dahl S; van Aarem A; Dobin A; Cremers CW; Kimberling WJ
    J Med Genet; 1996 Sep; 33(9):753-7. PubMed ID: 8880575
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.
    Saouda M; Mansour A; Bou Moglabey Y; El Zir E; Mustapha M; Chaib H; Nehmé A; Mégarbané A; Loiselet J; Petit C; Slim R
    Hum Genet; 1998 Aug; 103(2):193-8. PubMed ID: 9760205
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The construction of a yeast artificial chromosome (YAC) contig in the vicinity of the Usher syndrome type IIa (USH2A) gene in 1q41.
    Sumegi J; Wang JY; Zhen DK; Eudy JD; Talmadge CB; Li BF; Berglund P; Weston MD; Yao SF; Ma-Edmonds M; Overbeck L; Kelley PM; Zabarovsky E; Uzvolgyi E; Stanbridge EJ; Klein G; Kimberling WJ
    Genomics; 1996 Jul; 35(1):79-86. PubMed ID: 8661107
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2.
    Hmani M; Ghorbel A; Boulila-Elgaied A; Ben Zina Z; Kammoun W; Drira M; Chaabouni M; Petit C; Ayadi H
    Eur J Hum Genet; 1999 Apr; 7(3):363-7. PubMed ID: 10234513
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].
    Pennings RJ; Kremer H; Deutman AF; Kimberling WJ; Cremers CW
    Ned Tijdschr Geneeskd; 2002 Dec; 146(49):2354-8. PubMed ID: 12510399
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.
    Pieke-Dahl S; Möller CG; Kelley PM; Astuto LM; Cremers CW; Gorin MB; Kimberling WJ
    J Med Genet; 2000 Apr; 37(4):256-62. PubMed ID: 10745043
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.
    Fu J; Cheng J; Zhou Q; Khan MA; Duan C; Peng J; Lv H; Fu J
    Mol Med Rep; 2020 Oct; 22(4):3464-3472. PubMed ID: 32945453
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.