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Items: 1 to 20 of 109

1.

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. doi: 10.1001/archoto.2009.66.

2.

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.

PMID:
15279074
3.

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. doi: 10.1089/thy.2013.0164. Epub 2014 Jan 20.

PMID:
24224479
4.

Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.

Chattaraj P, Reimold FR, Muskett JA, Shmukler BE, Chien WW, Madeo AC, Pryor SP, Zalewski CK, Butman JA, Brewer CC, Kenna MA, Alper SL, Griffith AJ.

JAMA Otolaryngol Head Neck Surg. 2013 Sep;139(9):907-13. doi: 10.1001/jamaoto.2013.4185. Erratum in: JAMA Otolaryngol Head Neck Surg. 2014 Dec;140(12):1212.

PMID:
24051746
5.

SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.

King KA, Choi BY, Zalewski C, Madeo AC, Manichaikul A, Pryor SP, Ferruggiaro A, Eisenman D, Kim HJ, Niparko J, Thomsen J, Butman JA, Griffith AJ, Brewer CC.

Laryngoscope. 2010 Feb;120(2):384-9. doi: 10.1002/lary.20722.

6.

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;70:43-9. doi: 10.1159/000322469. Epub 2011 Feb 24. Review.

PMID:
21358184
7.

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct.

Ito T, Choi BY, King KA, Zalewski CK, Muskett J, Chattaraj P, Shawker T, Reynolds JC, Butman JA, Brewer CC, Wangemann P, Alper SL, Griffith AJ.

Cell Physiol Biochem. 2011;28(3):545-52. doi: 10.1159/000335119. Epub 2011 Nov 18. Review.

8.

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;133(2):162-8. Erratum in: Arch Otolaryngol Head Neck Surg. 2007 Jun;133(6):607.

PMID:
17309986
9.

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. doi: 10.1002/lary.24368. Epub 2013 Dec 17.

PMID:
24105851
10.

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. doi: 10.1186/1479-5876-9-167.

11.

Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes.

Rah YC, Kim AR, Koo JW, Lee JH, Oh SH, Choi BY.

Laryngoscope. 2015 Jun;125(6):E216-22. doi: 10.1002/lary.25079. Epub 2014 Dec 8.

PMID:
25488846
12.

Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

Reyes S, Wang G, Ouyang X, Han B, Du LL, Yuan HJ, Yan D, Dai P, Liu XZ.

Otolaryngol Head Neck Surg. 2009 Oct;141(4):502-8. doi: 10.1016/j.otohns.2009.07.004.

13.

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;145(6):697-703.

14.

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.

Park HJ, Lee SJ, Jin HS, Lee JO, Go SH, Jang HS, Moon SK, Lee SC, Chun YM, Lee HK, Choi JY, Jung SC, Griffith AJ, Koo SK.

Clin Genet. 2005 Feb;67(2):160-5.

PMID:
15679828
15.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabédian EN, Couderc R, Marlin S, Denoyelle F.

Eur J Hum Genet. 2006 Jun;14(6):773-9.

16.

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

Hu H, Wu L, Feng Y, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N, Xia J.

J Hum Genet. 2007;52(6):492-7. Epub 2007 Apr 19.

PMID:
17443271
17.

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

Landa P, Differ AM, Rajput K, Jenkins L, Bitner-Glindzicz M.

BMC Med Genet. 2013 Aug 21;14:85. doi: 10.1186/1471-2350-14-85.

18.

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ.

Hum Mutat. 2009 Apr;30(4):599-608. doi: 10.1002/humu.20884.

19.

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. doi: 10.1186/1471-2350-14-56.

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.

PMID:
9604973
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