BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

246 related articles for article (PubMed ID: 27259978)

  • 1. Unresolved questions regarding human hereditary deafness.
    Rehman AU; Friedman TB; Griffith AJ
    Oral Dis; 2017 Jul; 23(5):551-558. PubMed ID: 27259978
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The genetic basis of DOORS syndrome: an exome-sequencing study.
    Campeau PM; Kasperaviciute D; Lu JT; Burrage LC; Kim C; Hori M; Powell BR; Stewart F; Félix TM; van den Ende J; Wisniewska M; Kayserili H; Rump P; Nampoothiri S; Aftimos S; Mey A; Nair LD; Begleiter ML; De Bie I; Meenakshi G; Murray ML; Repetto GM; Golabi M; Blair E; Male A; Giuliano F; Kariminejad A; Newman WG; Bhaskar SS; Dickerson JE; Kerr B; Banka S; Giltay JC; Wieczorek D; Tostevin A; Wiszniewska J; Cheung SW; Hennekam RC; Gibbs RA; Lee BH; Sisodiya SM
    Lancet Neurol; 2014 Jan; 13(1):44-58. PubMed ID: 24291220
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
    Finelli MJ; Aprile D; Castroflorio E; Jeans A; Moschetta M; Chessum L; Degiacomi MT; Grasegger J; Lupien-Meilleur A; Bassett A; Rossignol E; Campeau PM; Bowl MR; Benfenati F; Fassio A; Oliver PL
    Hum Mol Genet; 2019 Feb; 28(4):584-597. PubMed ID: 30335140
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
    Lozano R; Herman K; Rothfuss M; Rieger H; Bayrak-Toydemir P; Aprile D; Fruscione F; Zara F; Fassio A
    Am J Med Genet A; 2016 Dec; 170(12):3207-3214. PubMed ID: 27541164
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel mutations in the SLC26A4 gene.
    Busi M; Castiglione A; Taddei Masieri M; Ravani A; Guaran V; Astolfi L; Trevisi P; Ferlini A; Martini A
    Int J Pediatr Otorhinolaryngol; 2012 Sep; 76(9):1249-54. PubMed ID: 22717225
    [TBL] [Abstract][Full Text] [Related]  

  • 6. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
    Campeau PM; Hennekam RC;
    Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):327-32. PubMed ID: 25169651
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
    Nonose RW; Lezirovitz K; de Mello Auricchio MTB; Batissoco AC; Yamamoto GL; Mingroni-Netto RC
    BMC Med Genet; 2018 May; 19(1):73. PubMed ID: 29739340
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The PDS gene, Pendred syndrome and non-syndromic deafness DFNB4.
    Wilcox ER; Everett LA; Li XC; Lalwani AK; Green ED
    Adv Otorhinolaryngol; 2000; 56():145-51. PubMed ID: 10868226
    [No Abstract]   [Full Text] [Related]  

  • 9. Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
    Gao X; Dai P; Yuan YY
    Hum Genet; 2022 Apr; 141(3-4):821-838. PubMed ID: 34232384
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotype-genotype complexities: opening DOORS.
    Berkovic SF; Gecz J
    Lancet Neurol; 2014 Jan; 13(1):24-5. PubMed ID: 24291219
    [No Abstract]   [Full Text] [Related]  

  • 11. [Current status and perspectives of the research in Pendred syndrome].
    Matsunaga T; Fujioka M; Hosoya M
    Nihon Rinsho; 2013 Dec; 71(12):2215-22. PubMed ID: 24437281
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hereditary hearing loss with thyroid abnormalities.
    Choi BY; Muskett J; King KA; Zalewski CK; Shawker T; Reynolds JC; Butman JA; Brewer CC; Stewart AK; Alper SL; Griffith AJ
    Adv Otorhinolaryngol; 2011; 70():43-49. PubMed ID: 21358184
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.
    Fischer B; Lüthy K; Paesmans J; De Koninck C; Maes I; Swerts J; Kuenen S; Uytterhoeven V; Verstreken P; Versées W
    Nat Struct Mol Biol; 2016 Nov; 23(11):965-973. PubMed ID: 27669036
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
    Napiontek U; Borck G; Müller-Forell W; Pfarr N; Bohnert A; Keilmann A; Pohlenz J
    J Clin Endocrinol Metab; 2004 Nov; 89(11):5347-51. PubMed ID: 15531480
    [TBL] [Abstract][Full Text] [Related]  

  • 15. PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
    Salian S; Benkerroum H; Nguyen TTM; Nampoothiri S; Kinoshita T; Félix TM; Stewart F; Sisodiya SM; Murakami Y; Campeau PM
    Hum Genet; 2021 Jun; 140(6):879-884. PubMed ID: 33386993
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].
    Mironovich OL; Bliznetz EA; Markova TG; Geptner EN; Lalayants MR; Zelikovich EI; Tavartkiladze GA; Polyakov AV
    Genetika; 2017 Jan; 53(1):88-99. PubMed ID: 29372807
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome?
    Kara C; Kılıç M; Uçaktürk A; Aydın M
    J Clin Res Pediatr Endocrinol; 2010; 2(2):81-4. PubMed ID: 21274344
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
    Ladsous M; Vlaeminck-Guillem V; Dumur V; Vincent C; Dubrulle F; Dhaenens CM; Wémeau JL
    Thyroid; 2014 Apr; 24(4):639-48. PubMed ID: 24224479
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.
    Mey K; Muhamad AA; Tranebjaerg L; Rendtorff ND; Rasmussen SH; Bille M; Cayé-Thomasen P
    Laryngoscope; 2019 Nov; 129(11):2574-2579. PubMed ID: 31633822
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration.
    Fernandes AC; Uytterhoeven V; Kuenen S; Wang YC; Slabbaert JR; Swerts J; Kasprowicz J; Aerts S; Verstreken P
    J Cell Biol; 2014 Nov; 207(4):453-62. PubMed ID: 25422373
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.