BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

182 related articles for article (PubMed ID: 33974254)

  • 1. [Identification of novel pathogenic variants of TRIOBP gene in a pedigree affected with non-syndromic deafness].
    Feng M; Zhou K; Huang L; Tang F; Qu S; Lu Q; Chen R; Li F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 May; 38(5):454-457. PubMed ID: 33974254
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.
    Zhou B; Yu L; Wang Y; Shang W; Xie Y; Wang X; Han F
    BMC Med Genet; 2020 Jun; 21(1):121. PubMed ID: 32487028
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.
    Pollak A; Lechowicz U; Murcia Pieńkowski VA; Stawiński P; Kosińska J; Skarżyński H; Ołdak M; Płoski R
    BMC Med Genet; 2017 Dec; 18(1):142. PubMed ID: 29197352
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss.
    Liang P; Chen F; Wang S; Li Q; Li W; Wang J; Chen J; Zha D
    Int J Pediatr Otorhinolaryngol; 2021 Sep; 148():110817. PubMed ID: 34265623
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
    Kabahuma RI; Schubert WD; Labuschagne C; Yan D; Pepper MS; Liu XZ
    Mol Genet Genomic Med; 2022 Oct; 10(10):e2015. PubMed ID: 36029164
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Diagnosis of a Chinese pedigree affected with autosomal recessive deafness 4 with enlarged vestibular aqueduct due to compound heterozygous variants of FOXI1 gene].
    Li J; Kang H; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1080-1084. PubMed ID: 36184087
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel compound heterozygous mutation in the GJB2 gene is associated with non-syndromic hearing loss in a Chinese family.
    Jiang H; Niu Y; Qu L; Huang X; Zhu X; Tang G
    Biosci Trends; 2018; 12(5):470-475. PubMed ID: 30473554
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel
    Li Q; Liang P; Wang S; Li W; Wang J; Yang Y; An X; Chen J; Zha D
    Mol Med Rep; 2021 Jun; 23(6):. PubMed ID: 33846771
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Identifications of the novel mutants on
    Liu J; Ding Y; Hu Y
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2022 Jan; 36(1):27-31. PubMed ID: 34979615
    [No Abstract]   [Full Text] [Related]  

  • 10. Identification of a novel MYO6 mutation associated with autosomal dominant non-syndromic hearing loss in a Chinese family by whole-exome sequencing.
    Tian T; Lu Y; Yao J; Cao X; Wei Q; Li Q
    Genes Genet Syst; 2018 Dec; 93(5):171-179. PubMed ID: 30175721
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel, pathogenic insertion variant of GSDME associates with autosomal dominant hearing loss in a large Chinese pedigree.
    Cheng J; Li T; Tan Q; Fu J; Zhang L; Yang L; Zhou B; Yang L; Fu S; Linehan AG; Fu J
    J Cell Mol Med; 2024 Jan; 28(1):e18004. PubMed ID: 37864300
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Whole-exome sequencing of
    Hu S; Zhang H; Liu Y; Liu M; Li J; Liao S
    F1000Res; 2021; 10():61. PubMed ID: 34567527
    [No Abstract]   [Full Text] [Related]  

  • 13. [Study on syndromic deafness caused by novel pattern of compound heterozygous variants in the
    Chen B; Zhang S; Tian YA; Liu HF; Liu DH; Xue X; Li RJ; Hu XX; Guan JY; Tang WX; Xu HE
    Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2020 Sep; 55(9):822-829. PubMed ID: 32911884
    [No Abstract]   [Full Text] [Related]  

  • 14. [Analysis of DFNA5 gene variant in a Chinese pedigree affected with late-onset non-syndromic hearing loss].
    Wang N; Chen C; Tong M; Li Q; Liu L; Hu S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):174-177. PubMed ID: 33565075
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Genetic testing of a Chinese pedigree affected with non-syndromic autosomal dominant deafness 15].
    Kang H; Zhao K; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jul; 38(7):639-642. PubMed ID: 34247367
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene].
    Feng ML; Huang SS; Tang FZ; Zhang X; Li XH; Qiu SW; Yuan YY
    Zhonghua Yi Xue Za Zhi; 2021 Jan; 101(2):115-121. PubMed ID: 33455126
    [No Abstract]   [Full Text] [Related]  

  • 17. Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.
    Tang F; Ma D; Wang Y; Qiu Y; Liu F; Wang Q; Lu Q; Shi M; Xu L; Liu M; Liang J
    BMC Med Genet; 2017 Mar; 18(1):35. PubMed ID: 28335750
    [TBL] [Abstract][Full Text] [Related]  

  • 18. MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.
    Li W; Guo L; Chen B; Shu Y; Li H
    Int J Pediatr Otorhinolaryngol; 2023 Aug; 171():111635. PubMed ID: 37390746
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss.
    Guan J; Wang H; Lan L; Wu Y; Chen G; Zhao C; Wang D; Wang Q
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1367. PubMed ID: 32567228
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.
    Wesdorp M; van de Kamp JM; Hensen EF; Schraders M; Oostrik J; Yntema HG; Feenstra I; Admiraal RJC; Kunst HPM; Tekin M; Kanaan M; Kremer H; Pennings RJE
    Hear Res; 2017 Apr; 347():56-62. PubMed ID: 28089734
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.