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Items: 1 to 20 of 60

1.

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

Song MH, Shin JW, Park HJ, Lee KA, Kim Y, Kim UK, Jeon JH, Choi JY.

Laryngoscope. 2014 May;124(5):E194-202. doi: 10.1002/lary.24504. Epub 2013 Dec 13.

PMID:
24338212
2.

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.

3.

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.

Chai Y, Huang Z, Tao Z, Li X, Li L, Li Y, Wu H, Yang T.

Am J Med Genet A. 2013 Sep;161A(9):2226-33. doi: 10.1002/ajmg.a.36068. Epub 2013 Aug 5.

PMID:
23918157
4.

Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.

Chen K, Wang X, Sun L, Jiang H.

Otolaryngol Head Neck Surg. 2012 Jun;146(6):972-8. doi: 10.1177/0194599812439670. Epub 2012 Mar 12.

PMID:
22412181
5.

Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.

Cirello V, Bazzini C, Vezzoli V, Muzza M, Rodighiero S, Castorina P, Maffini A, Bottà G, Persani L, Beck-Peccoz P, Meyer G, Fugazzola L.

Mol Cell Endocrinol. 2012 Apr 4;351(2):342-50. doi: 10.1016/j.mce.2012.01.013. Epub 2012 Jan 25.

PMID:
22285650
6.

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.

7.

Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition.

Choi BY, Kim HM, Ito T, Lee KY, Li X, Monahan K, Wen Y, Wilson E, Kurima K, Saunders TL, Petralia RS, Wangemann P, Friedman TB, Griffith AJ.

J Clin Invest. 2011 Nov;121(11):4516-25. doi: 10.1172/JCI59353. Epub 2011 Oct 3.

8.

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.

9.

KCNJ10 mutations disrupt function in patients with EAST syndrome.

Freudenthal B, Kulaveerasingam D, Lingappa L, Shah MA, Brueton L, Wassmer E, Ognjanovic M, Dorison N, Reichold M, Bockenhauer D, Kleta R, Zdebik AA.

Nephron Physiol. 2011;119(3):p40-8. doi: 10.1159/000330250. Epub 2011 Aug 18.

PMID:
21849804
10.

Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.

Mercer S, Mutton P, Dahl HH.

Genet Test Mol Biomarkers. 2011 May;15(5):365-8. doi: 10.1089/gtmb.2010.0177. Epub 2011 Mar 2.

PMID:
21366435
11.

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
12.

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola J 2nd, Scherer S, Scheetz TE, Smith RJ.

Proc Natl Acad Sci U S A. 2010 Dec 7;107(49):21104-9. doi: 10.1073/pnas.1012989107. Epub 2010 Nov 15.

13.

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.

Jonard L, Niasme-Grare M, Bonnet C, Feldmann D, Rouillon I, Loundon N, Calais C, Catros H, David A, Dollfus H, Drouin-Garraud V, Duriez F, Eliot MM, Fellmann F, Francannet C, Gilbert-Dussardier B, Gohler C, Goizet C, Journel H, Mom T, Thuillier-Obstoy MF, Couderc R, Garabédian EN, Denoyelle F, Marlin S.

Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1049-53. doi: 10.1016/j.ijporl.2010.06.002.

PMID:
20621367
14.

A coherent organization of differentiation proteins is required to maintain an appropriate thyroid function in the Pendred thyroid.

Senou M, Khalifa C, Thimmesch M, Jouret F, Devuyst O, Col V, Audinot JN, Lipnik P, Moreno JC, Van Sande J, Dumont JE, Many MC, Colin IM, Gérard AC.

J Clin Endocrinol Metab. 2010 Aug;95(8):4021-30. doi: 10.1210/jc.2010-0228. Epub 2010 May 25.

15.

Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.

Wu CC, Lu YC, Chen PJ, Yeh PL, Su YN, Hwu WL, Hsu CJ.

Audiol Neurootol. 2010;15(1):57-66. doi: 10.1159/000231567. Epub 2009 Aug 1.

PMID:
19648736
16.

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.

17.

Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.

Dossena S, Rodighiero S, Vezzoli V, Nofziger C, Salvioni E, Boccazzi M, Grabmayer E, Bottà G, Meyer G, Fugazzola L, Beck-Peccoz P, Paulmichl M.

J Mol Endocrinol. 2009 Sep;43(3):93-103. doi: 10.1677/JME-08-0175. Epub 2009 Jul 16. Review.

PMID:
19608655
18.

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Choi BY, Madeo AC, King KA, Zalewski CK, Pryor SP, Muskett JA, Nance WE, Butman JA, Brewer CC, Griffith AJ.

J Med Genet. 2009 Dec;46(12):856-61. doi: 10.1136/jmg.2009.067892. Epub 2009 Jul 2.

19.

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

Dai P, Stewart AK, Chebib F, Hsu A, Rozenfeld J, Huang D, Kang D, Lip V, Fang H, Shao H, Liu X, Yu F, Yuan H, Kenna M, Miller DT, Shen Y, Yang W, Zelikovic I, Platt OS, Han D, Alper SL, Wu BL.

Physiol Genomics. 2009 Aug 7;38(3):281-90. doi: 10.1152/physiolgenomics.00047.2009. Epub 2009 Jun 9. Erratum in: Physiol Genomics. 2010 Feb;40(3):216.

20.

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ.

Am J Hum Genet. 2009 May;84(5):651-7. doi: 10.1016/j.ajhg.2009.04.014. Epub 2009 May 7.

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