Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 159

Similar articles for PubMed (Select 17131260)

1.

[Evidence of a novel gene for the LAV-syndrome].

Birkenhäger R, Zimmer AJ, Maier W, Klenzner T, Aschendorff A, Schipper J.

Laryngorhinootologie. 2007 Feb;86(2):102-6. Epub 2006 Nov 27. German.

PMID:
17131260
2.

[Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome].

Birkenhäger R, Knapp FB, Klenzner T, Aschendorff A, Schipper J.

Laryngorhinootologie. 2004 Dec;83(12):831-5. German.

PMID:
15611902
3.

Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.

Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD.

QJM. 2000 Feb;93(2):99-104.

4.

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.

Abe S, Usami S, Hoover DM, Cohn E, Shinkawa H, Kimberling WJ.

Am J Med Genet. 1999 Feb 12;82(4):322-8.

PMID:
10051166
5.

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.

6.

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.

Pera A, Dossena S, Rodighiero S, Gandía M, Bottà G, Meyer G, Moreno F, Nofziger C, Hernández-Chico C, Paulmichl M.

Proc Natl Acad Sci U S A. 2008 Nov 25;105(47):18608-13. doi: 10.1073/pnas.0805831105. Epub 2008 Nov 18.

7.

Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.

Iwasaki S, Tsukamoto K, Usami S, Misawa K, Mizuta K, Mineta H.

J Hum Genet. 2006;51(9):805-10. Epub 2006 Aug 19.

PMID:
16924389
8.

Phenotypes of SLC26A4 gene mutations: Pendred syndrome and hypoacusis with enlarged vestibular aqueduct.

Maciaszczyk K, Lewiński A.

Neuro Endocrinol Lett. 2008 Feb;29(1):29-36. Review.

PMID:
18283249
9.

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;30(2):237-43. Erratum in: Endocrine. 2006 Dec;30(3):397. Park, Hyun-Yung [corrected to Park, Hyun-Young]; Kang, Eun Soek [corrected to Kang, Eun Seok].

PMID:
17322586
10.

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
11.

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
12.

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.

13.

[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. Czech.

PMID:
19235486
14.

A novel SLC26A4 (PDS) deafness mutation retained in the endoplasmic reticulum.

Brownstein ZN, Dror AA, Gilony D, Migirov L, Hirschberg K, Avraham KB.

Arch Otolaryngol Head Neck Surg. 2008 Apr;134(4):403-7. doi: 10.1001/archotol.134.4.403.

PMID:
18427006
15.

Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

Gonzalez Trevino O, Karamanoglu Arseven O, Ceballos CJ, Vives VI, Ramirez RC, Gomez VV, Medeiros-Neto G, Kopp P.

Eur J Endocrinol. 2001 Jun;144(6):585-93.

16.

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 Jr, Figueiredo LG, Neves FA, Casulari LA.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1296-303.

17.

CT of the ear in Pendred syndrome.

Goldfeld M, Glaser B, Nassir E, Gomori JM, Hazani E, Bishara N.

Radiology. 2005 May;235(2):537-40. Epub 2005 Mar 9.

PMID:
15758191
18.

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
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.

Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.

Yang JJ, Tsai CC, Hsu HM, Shiao JY, Su CC, Li SY.

Hear Res. 2005 Jan;199(1-2):22-30.

PMID:
15574297
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk