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Journal Abstract Search

425 related items for PubMed ID: 15279074

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  • 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
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  • 4. Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.
    Madeo AC, Manichaikul A, Reynolds JC, Sarlis NJ, Pryor SP, Shawker TH, Griffith AJ.
    Arch Otolaryngol Head Neck Surg; 2009 Jul; 135(7):670-6. PubMed ID: 19620588
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  • 5. 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
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  • 8. Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.
    Lofrano-Porto A, Barra GB, Nascimento PP, Costa PG, Garcia EC, Vaz RF, Batista AR, Freitas AC, Cherulli BL, Bahmad F, Figueiredo LG, Neves FA, Casulari LA.
    Arq Bras Endocrinol Metabol; 2008 Nov; 52(8):1296-303. PubMed ID: 19169484
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  • 9. 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 30; 9():167. PubMed ID: 21961810
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  • 10. 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 30; 60(4):323-7. PubMed ID: 26886089
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  • 11. Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan.
    Lai CC, Chiu CY, Shiao AS, Tso YC, Wu YC, Tu TY, Jap TS.
    Metabolism; 2007 Sep 30; 56(9):1279-84. PubMed ID: 17697873
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  • 12. SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.
    Chao JR, Chattaraj P, Munjal T, Honda K, King KA, Zalewski CK, Chien WW, Brewer CC, Griffith AJ.
    BMC Med Genet; 2019 Jul 02; 20(1):118. PubMed ID: 31266487
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  • 13. The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients.
    Cho MA, Jeong SJ, Eom SM, Park HY, Lee YJ, Park SE, Park SY, Rhee Y, Kang ES, Ahn CW, Cha BS, Lee EJ, Kim KR, Lee HC, Lim SK.
    Endocrine; 2006 Oct 02; 30(2):237-43. PubMed ID: 17322586
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  • 14. The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct.
    Madden C, Halsted M, Meinzen-Derr J, Bardo D, Boston M, Arjmand E, Nishimura C, Yang T, Benton C, Das V, Smith R, Choo D, Greinwald J.
    Arch Otolaryngol Head Neck Surg; 2007 Feb 02; 133(2):162-8. PubMed ID: 17309986
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  • 15. Phenotypes associated with replacement of His by Arg in the Pendred syndrome gene.
    Sato E, Nakashima T, Miura Y, Furuhashi A, Nakayama A, Mori N, Murakami H, Naganawa S, Tadokoro M.
    Eur J Endocrinol; 2001 Dec 02; 145(6):697-703. PubMed ID: 11720893
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  • 16. A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.
    Huang CJ, Lei TH, Chang WL, Tu TY, Shiao AS, Chiu CY, Jap TS.
    Int J Pediatr Otorhinolaryngol; 2013 Sep 02; 77(9):1495-9. PubMed ID: 23838540
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  • 17. 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 24; 14():56. PubMed ID: 23705809
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  • 20. 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 24; 90():170-174. PubMed ID: 27729126
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