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 *

176 related articles for article (PubMed ID: 30800556)

  • 1. Genetic screening revealed usher syndrome in a paediatric Chinese patient.
    Qu C; Liang F; Long Q; Zhao M; Shang H; Fan L; Wang L; Foster J; Yan D; Liu X
    Hearing Balance Commun; 2017; 15(2):98-106. PubMed ID: 30800556
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.
    Zhai W; Jin X; Gong Y; Qu LH; Zhao C; Li ZH
    Int J Ophthalmol; 2015; 8(4):670-4. PubMed ID: 26309859
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.
    He X; Peng Q; Li S; Zhu P; Wu C; Rao C; Lin J; Lu X
    Int J Pediatr Otorhinolaryngol; 2017 Aug; 99():40-43. PubMed ID: 28688563
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the
    Zhang L; Cheng J; Zhou Q; Khan MA; Fu J; Duan C; Sun S; Lv H; Fu J
    Front Genet; 2020; 11():422. PubMed ID: 32425987
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.
    Gao X; Wang GJ; Yuan YY; Xin F; Han MY; Lu JQ; Zhao H; Yu F; Xu JC; Zhang MG; Dong J; Lin X; Dai P
    PLoS One; 2014; 9(7):e103415. PubMed ID: 25080338
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.
    Ramzan K; Al-Owain M; Huma R; Al-Hazzaa SAF; Al-Ageel S; Imtiaz F; Al-Sayed M
    Int J Pediatr Otorhinolaryngol; 2018 May; 108():17-21. PubMed ID: 29605349
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Mutation analysis and prenatal diagnosis of MYO7A gene in a case of Usher syndrome type 1].
    Wang SJ; Xiong WY; Ma YY; Peng X; Yang F; Chen ZQ; Yu FH; Cheng J; Yuan HJ; Kang HY; Lu Y
    Zhonghua Yi Xue Za Zhi; 2021 Jan; 101(2):122-126. PubMed ID: 33455127
    [No Abstract]   [Full Text] [Related]  

  • 9. Identification of a novel MYO7A mutation in Usher syndrome type 1.
    Cheng L; Yu H; Jiang Y; He J; Pu S; Li X; Zhang L
    Oncotarget; 2018 Jan; 9(2):2295-2303. PubMed ID: 29416772
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Usher syndrome: clinical features, molecular genetics and advancing therapeutics.
    Toms M; Pagarkar W; Moosajee M
    Ther Adv Ophthalmol; 2020; 12():2515841420952194. PubMed ID: 32995707
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B.
    Li Y; Su J; Ding C; Yu F; Zhu B
    Int J Pediatr Otorhinolaryngol; 2019 May; 120():166-172. PubMed ID: 30826590
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
    Aparisi MJ; Aller E; Fuster-García C; García-García G; Rodrigo R; Vázquez-Manrique RP; Blanco-Kelly F; Ayuso C; Roux AF; Jaijo T; Millán JM
    Orphanet J Rare Dis; 2014 Nov; 9():168. PubMed ID: 25404053
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a novel compound heterozygous pathogenic variant in
    Zhang Y; Guo X; Hao L; Tian M; Ma Y; Tang Y
    J Int Med Res; 2023 Dec; 51(12):3000605231218924. PubMed ID: 38141656
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
    Vona B; Lechno S; Hofrichter MA; Hopf S; Läig AK; Haaf T; Keilmann A; Zechner U; Bartsch O
    Ear Hear; 2016; 37(4):e238-46. PubMed ID: 26849169
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Phenotypic characterization of retinitis pigmentosa associated with deafness.
    Paredes ÁC; López G; Gelvez N; Tamayo ML
    Biomedica; 2022 May; 42(Sp. 1):130-143. PubMed ID: 35866736
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
    Janecke AR; Meins M; Sadeghi M; Grundmann K; Apfelstedt-Sylla E; Zrenner E; Rosenberg T; Gal A
    Hum Mutat; 1999; 13(2):133-40. PubMed ID: 10094549
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy.
    de Joya EM; Colbert BM; Tang PC; Lam BL; Yang J; Blanton SH; Dykxhoorn DM; Liu X
    Int J Mol Sci; 2021 Apr; 22(8):. PubMed ID: 33920085
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.