These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

257 related articles for article (PubMed ID: 25834954)

  • 41. Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
    Aller E; Jaijo T; Beneyto M; Nájera C; Oltra S; Ayuso C; Baiget M; Carballo M; Antiñolo G; Valverde D; Moreno F; Vilela C; Collado D; Pérez-Garrigues H; Navea A; Millán JM
    J Med Genet; 2006 Nov; 43(11):e55. PubMed ID: 17085681
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC.
    Zhang N; Wang J; Liu S; Liu M; Jiang F
    Ophthalmic Genet; 2018 Aug; 39(4):517-521. PubMed ID: 29883260
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.
    Zong L; Chen K; Wu X; Liu M; Jiang H
    Int J Pediatr Otorhinolaryngol; 2016 Nov; 90():150-155. PubMed ID: 27729122
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
    Yan D; Ouyang X; Patterson DM; Du LL; Jacobson SG; Liu XZ
    J Hum Genet; 2009 Dec; 54(12):732-8. PubMed ID: 19881469
    [TBL] [Abstract][Full Text] [Related]  

  • 45. A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
    Hartel BP; Löfgren M; Huygen PL; Guchelaar I; Lo-A-Njoe Kort N; Sadeghi AM; van Wijk E; Tranebjærg L; Kremer H; Kimberling WJ; Cremers CW; Möller C; Pennings RJ
    Hear Res; 2016 Sep; 339():60-8. PubMed ID: 27318125
    [TBL] [Abstract][Full Text] [Related]  

  • 46. [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]  

  • 47. Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
    Colombo L; Maltese PE; Castori M; El Shamieh S; Zeitz C; Audo I; Zulian A; Marinelli C; Benedetti S; Costantini A; Bressan S; Percio M; Ferri P; Abeshi A; Bertelli M; Rossetti L
    Invest Ophthalmol Vis Sci; 2021 Feb; 62(2):13. PubMed ID: 33576794
    [TBL] [Abstract][Full Text] [Related]  

  • 48. The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
    García-García G; Besnard T; Baux D; Vaché C; Aller E; Malcolm S; Claustres M; Millan JM; Roux AF
    Mol Vis; 2013; 19():367-73. PubMed ID: 23441107
    [TBL] [Abstract][Full Text] [Related]  

  • 49. A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
    Li T; Feng Y; Liu Y; He C; Liu J; Chen H; Deng Y; Li M; Li W; Song J; Niu Z; Sang S; Wen J; Men M; Chen X; Li J; Liu X; Ling J
    Gene; 2019 Jul; 704():113-120. PubMed ID: 30974196
    [TBL] [Abstract][Full Text] [Related]  

  • 50. UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
    Baux D; Faugère V; Larrieu L; Le Guédard-Méreuze S; Hamroun D; Béroud C; Malcolm S; Claustres M; Roux AF
    Hum Mutat; 2008 Aug; 29(8):E76-87. PubMed ID: 18484607
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing.
    Jia Y; Li X; Yang D; Xu Y; Guo Y; Li X
    Int J Pediatr Otorhinolaryngol; 2018 Jan; 104():186-190. PubMed ID: 29287864
    [TBL] [Abstract][Full Text] [Related]  

  • 52. [Hearing loss due to mutations in the genes responsible for Usher syndrome].
    Markova TG; Alekseeva NN; Belov OA; Chugunova TI; Tsygankova ER
    Vestn Otorinolaringol; 2022; 87(1):52-59. PubMed ID: 35274893
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome.
    Fakin A; Zupan A; Glavač D; Hawlina M
    Vision Res; 2012 Dec; 75():71-6. PubMed ID: 22842402
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.
    Bousfiha A; Bakhchane A; Charoute H; Detsouli M; Rouba H; Charif M; Lenaers G; Barakat A
    Mol Biol Rep; 2017 Oct; 44(5):429-434. PubMed ID: 28951997
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.
    Auslender N; Bandah D; Rizel L; Behar DM; Shohat M; Banin E; Allon-Shalev S; Sharony R; Sharon D; Ben-Yosef T
    Genet Test; 2008 Jun; 12(2):289-94. PubMed ID: 18452394
    [TBL] [Abstract][Full Text] [Related]  

  • 56. 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]  

  • 57. Partial USH2A deletions contribute to Usher syndrome in Denmark.
    Dad S; Rendtorff ND; Kann E; Albrechtsen A; Mehrjouy MM; Bak M; Tommerup N; Tranebjærg L; Rosenberg T; Jensen H; Møller LB
    Eur J Hum Genet; 2015 Dec; 23(12):1646-51. PubMed ID: 25804404
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
    Yoshimura H; Iwasaki S; Nishio SY; Kumakawa K; Tono T; Kobayashi Y; Sato H; Nagai K; Ishikawa K; Ikezono T; Naito Y; Fukushima K; Oshikawa C; Kimitsuki T; Nakanishi H; Usami S
    PLoS One; 2014; 9(3):e90688. PubMed ID: 24618850
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.
    Aller E; Jaijo T; Beneyto M; Nájera C; Morera C; Pérez-Garrigues H; Ayuso C; Millán J
    Ophthalmic Genet; 2007 Sep; 28(3):151-5. PubMed ID: 17896313
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Molecular Inversion Probe-Based Sequencing of
    Reurink J; Dockery A; Oziębło D; Farrar GJ; Ołdak M; Ten Brink JB; Bergen AA; Rinne T; Yntema HG; Pennings RJE; van den Born LI; Aben M; Oostrik J; Venselaar H; Plomp AS; Khan MI; van Wijk E; Cremers FPM; Roosing S; Kremer H
    Int J Mol Sci; 2021 Jun; 22(12):. PubMed ID: 34203967
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.