BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

292 related articles for article (PubMed ID: 28091472)

  • 1. [The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)].
    Markova TG; Geptner EN; Lalayants MR; Zelikovich EI; Chugunova TI; Mironovich OL; Bliznetz EA; Polyakov AV; Tavartkiladze GA
    Vestn Otorinolaringol; 2016; 81(6):25-31. PubMed ID: 28091472
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [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]  

  • 4. [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]  

  • 5. Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.
    Huang S; Han D; Yuan Y; Wang G; Kang D; Zhang X; Yan X; Meng X; Dong M; Dai P
    J Transl Med; 2011 Sep; 9():167. PubMed ID: 21961810
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents.
    Aimoni C; Ciorba A; Cerritelli L; Ceruti S; Skarżyński PH; Hatzopoulos S
    Int J Pediatr Otorhinolaryngol; 2017 Oct; 101():254-258. PubMed ID: 28780189
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
    Fu C; Zheng H; Zhang S; Chen Y; Su J; Wang J; Xie B; Hu X; Fan X; Luo J; Li C; Chen R; Shen Y; Chen S
    Arch Endocrinol Metab; 2016 Aug; 60(4):323-7. PubMed ID: 26886089
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct.
    Bogazzi F; Russo D; Raggi F; Ultimieri F; Berrettini S; Forli F; Grasso L; Ceccarelli C; Mariotti S; Pinchera A; Bartalena L; Martino E
    J Endocrinol Invest; 2004 May; 27(5):430-5. PubMed ID: 15279074
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. CT-scans of cochlear implant patients with characteristics of Pendred syndrome.
    Roesch S; Moser G; Rasp G; Tóth M
    Cell Physiol Biochem; 2013; 32(7):166-72. PubMed ID: 24429823
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pendred syndrome.
    Wémeau JL; Kopp P
    Best Pract Res Clin Endocrinol Metab; 2017 Mar; 31(2):213-224. PubMed ID: 28648509
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel compound heterozygous mutations in SLC26A4 gene in a Chinese Han family with enlarged vestibular aqueduct.
    Wang M; Zhang F; Xu L; Xiao Y; Li J; Fan Z; Sun Q; Bai X; Wang H
    Int J Pediatr Otorhinolaryngol; 2016 Nov; 90():170-174. PubMed ID: 27729126
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.
    Ganaha A; Kaname T; Yanagi K; Naritomi K; Tono T; Usami S; Suzuki M
    BMC Med Genet; 2013 May; 14():56. PubMed ID: 23705809
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features.
    Forli F; Lazzerini F; Auletta G; Bruschini L; Berrettini S
    Eur Arch Otorhinolaryngol; 2021 Jul; 278(7):2305-2312. PubMed ID: 32910226
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication.
    Jang JH; Jung J; Kim AR; Cho YM; Kim MY; Lee SY; Choi JY; Lee JH; Choi BY
    Audiol Neurootol; 2014; 19(5):319-26. PubMed ID: 25358692
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Pendred syndrome among patients with hypothyroidism: genetic diagnosis, phenotypic variability and occurrence of phenocopies].
    Banghová K; Al TE; Novotná D; Zapletalová J; Hníková O; Cáp J; Klabochová J; Kúseková M; Lebl J
    Cas Lek Cesk; 2008; 147(12):616-22. PubMed ID: 19235486
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.
    Okamoto Y; Mutai H; Nakano A; Arimoto Y; Sugiuchi T; Masuda S; Morimoto N; Sakamoto H; Ogahara N; Takagi A; Taiji H; Kaga K; Ogawa K; Matsunaga T
    Laryngoscope; 2014 Apr; 124(4):E134-40. PubMed ID: 24105851
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Significance of unilateral enlarged vestibular aqueduct.
    Greinwald J; DeAlarcon A; Cohen A; Uwiera T; Zhang K; Benton C; Halstead M; Meinzen-Derr J
    Laryngoscope; 2013 Jun; 123(6):1537-46. PubMed ID: 23401162
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome.
    Cremers WR; Bolder C; Admiraal RJ; Everett LA; Joosten FB; van Hauwe P; Green ED; Otten BJ
    Arch Otolaryngol Head Neck Surg; 1998 May; 124(5):501-5. PubMed ID: 9604973
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.