BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 30205178)

  • 1. Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss.
    Khatami S; Rokni-Zadeh H; Mohsen-Pour N; Biglari A; Changi-Ashtiani M; Shahrooei M; Shahani T
    Mitochondrion; 2019 May; 46():321-325. PubMed ID: 30205178
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Maternally transmitted aminoglycoside-induced and non-syndromic hearing loss caused by the 1494C > T mutation in the mitochondrial 12S rRNA gene in two Chinese families.
    Wei Q; Xu D; Chen Z; Li H; Lu Y; Liu C; Bu X; Xing G; Cao X
    Int J Audiol; 2013 Feb; 52(2):98-103. PubMed ID: 23237192
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Allele-specific PCR for detecting the deafness-associated mitochondrial 12S rRNA mutations.
    Ding Y; Xia BH; Liu Q; Li MY; Huang SX; Zhuo GC
    Gene; 2016 Oct; 591(1):148-152. PubMed ID: 27397648
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.
    Meng F; Cang X; Peng Y; Li R; Zhang Z; Li F; Fan Q; Guan AS; Fischel-Ghosian N; Zhao X; Guan MX
    J Biol Chem; 2017 Feb; 292(7):2881-2892. PubMed ID: 28049726
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
    Guan MX; Yan Q; Li X; Bykhovskaya Y; Gallo-Teran J; Hajek P; Umeda N; Zhao H; Garrido G; Mengesha E; Suzuki T; del Castillo I; Peters JL; Li R; Qian Y; Wang X; Ballana E; Shohat M; Lu J; Estivill X; Watanabe K; Fischel-Ghodsian N
    Am J Hum Genet; 2006 Aug; 79(2):291-302. PubMed ID: 16826519
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.
    Sarmadi A; Nasrniya S; Narrei S; Nouri Z; Abtahi H; Tabatabaiefar MA
    Mol Biol Rep; 2020 Jul; 47(7):5355-5364. PubMed ID: 32623615
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.
    Chen C; Guan MX
    Hum Mol Genet; 2022 Sep; 31(18):3068-3082. PubMed ID: 35467742
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Next-generation sequencing reveals a novel pathological mutation in the TMC1 gene causing autosomal recessive non-syndromic hearing loss in an Iranian kindred.
    Sadeghian L; Tabatabaiefar MA; Fattahi N; Pourreza MR; Tahmasebi P; Alavi Z; Hashemzadeh Chaleshtori M
    Int J Pediatr Otorhinolaryngol; 2019 Sep; 124():99-105. PubMed ID: 31176026
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.
    Nouri Z; Sarmadi A; Narrei S; Kianersi H; Kianersi F; Tabatabaiefar MA
    BMC Med Genomics; 2024 Jul; 17(1):173. PubMed ID: 38956522
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation.
    Bae JW; Kim DB; Choi JY; Park HJ; Lee JD; Hur DG; Bae SH; Jung DJ; Lee SH; Kim UK; Lee KY
    PLoS One; 2012; 7(8):e42463. PubMed ID: 22879993
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.
    Hofrichter MAH; Mojarad M; Doll J; Grimm C; Eslahi A; Hosseini NS; Rajati M; Müller T; Dittrich M; Maroofian R; Haaf T; Vona B
    BMC Med Genet; 2018 May; 19(1):81. PubMed ID: 29776397
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mitochondrial COX2 G7598A mutation may have a modifying role in the phenotypic manifestation of aminoglycoside antibiotic-induced deafness associated with 12S rRNA A1555G mutation in a Han Chinese pedigree.
    Chen T; Liu Q; Jiang L; Liu C; Ou Q
    Genet Test Mol Biomarkers; 2013 Feb; 17(2):122-30. PubMed ID: 23256547
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.
    Vallian Broojeni J; Kazemi A; Rezaei H; Vallian S
    PLoS One; 2023; 18(8):e0289247. PubMed ID: 37561809
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family.
    Ding Y; Li Y; You J; Yang L; Chen B; Lu J; Guan MX
    J Genet Genomics; 2009 Apr; 36(4):241-50. PubMed ID: 19376484
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss.
    Mkaouar-Rebai E; Tlili A; Masmoudi S; Louhichi N; Charfeddine I; Ben Amor M; Lahmar I; Driss N; Drira M; Ayadi H; Fakhfakh F
    Biochem Biophys Res Commun; 2006 Feb; 340(4):1251-8. PubMed ID: 16406239
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Complete mitochondrial genome analysis and clinical documentation of a five-generational Indian family with mitochondrial 1555A>G mutation and postlingual hearing loss.
    Subathra M; Selvakumari M; Ramesh A; Ramakrishnan R; Karan KR; Kaur M; Manikandan M; Srikumari Srisailapathy CR
    Ann Hum Genet; 2014 May; 78(3):217-34. PubMed ID: 24660976
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.
    Safka Brozkova D; Poisson Marková S; Mészárosová AU; Jenčík J; Čejnová V; Čada Z; Laštůvková J; Rašková D; Seeman P
    Clin Genet; 2020 Dec; 98(6):548-554. PubMed ID: 32860223
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment.
    Mehregan H; Mohseni M; Akbari M; Jalalvand K; Arzhangi S; Nikzat N; Kahrizi K; Najmabadi H
    Arch Iran Med; 2019 Apr; 22(4):189-197. PubMed ID: 31126177
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss.
    Li R; Xing G; Yan M; Cao X; Liu XZ; Bu X; Guan MX
    Am J Med Genet A; 2004 Jan; 124A(2):113-7. PubMed ID: 14699607
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss.
    Chai Y; Sun L; Pang X; Wang X; Chen D; Chen Y; Wu H; Yang T
    Int J Pediatr Otorhinolaryngol; 2014 Apr; 78(4):614-7. PubMed ID: 24507663
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.