Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 179

1.

Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis.

Namba A, Abe S, Shinkawa H, Kimberling WJ, Usami SI.

J Hum Genet. 2001;46(9):518-21.

PMID:
11558900
3.

Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.

Rodríguez-Soriano J, Vallo A, Bilbao JR, Castaño L.

Pediatr Nephrol. 2001 Jul;16(7):550-3.

PMID:
11465802
4.

Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.

Matsunaga T, Okada M, Usami S, Okuyama T.

Acta Otolaryngol. 2007 Jan;127(1):98-104.

PMID:
17364338
5.

Mutation of the EYA1 gene in patients with branchio-oto syndrome.

Yashima T, Noguchi Y, Ishikawa K, Mizusawa H, Kitamura K.

Acta Otolaryngol. 2003 Jan;123(2):279-82.

PMID:
12701758
6.

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.

7.

EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions.

Okada M, Fujimaru R, Morimoto N, Satomura K, Kaku Y, Tsuzuki K, Nozu K, Okuyama T, Iijima K.

Pediatr Nephrol. 2006 Apr;21(4):475-81. Epub 2006 Feb 21.

PMID:
16491411
8.

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, Van Camp G, Welch KO, Smith RJ, Kimberling WJ.

Hum Mutat. 2008 Apr;29(4):537-44. doi: 10.1002/humu.20691.

PMID:
18220287
9.

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ.

Hum Genet. 1999 Feb;104(2):188-92.

PMID:
10190331
10.
11.

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ.

Hum Mutat. 2001 May;17(5):403-11.

PMID:
11317356
12.

Identification of a novel mutation in the EYA1 gene in a Korean family with branchio-oto-renal (BOR) syndrome.

Kim SH, Shin JH, Yeo CK, Chang SH, Park SY, Cho EH, Ki CS, Kim JW.

Int J Pediatr Otorhinolaryngol. 2005 Aug;69(8):1123-8. Epub 2005 Apr 8.

PMID:
16005355
13.

A family affected by branchio-oto syndrome with EYA1 mutations.

Fukuda S, Kuroda T, Chida E, Shimizu R, Usami S, Koda E, Abe S, Namba A, Kitamura K, Inuyama Y.

Auris Nasus Larynx. 2001 May;28 Suppl:S7-11.

PMID:
11683347
14.

[Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation].

Chen DY, Chen XW, Jin X, Zuo J, Wei CG, Cao KL, Fang FD.

Zhonghua Yi Xue Za Zhi. 2007 Oct 30;87(40):2820-4. Chinese.

PMID:
18167283
15.

Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family.

Lee KY, Kim S, Kim UK, Ki CS, Lee SH.

Int J Pediatr Otorhinolaryngol. 2007 Jan;71(1):169-74. Epub 2006 Oct 17.

PMID:
17049623
16.

A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome.

Lee JD, Kim SC, Koh YW, Lee HJ, Choi SY, Kim UK.

Ann Clin Lab Sci. 2009 Summer;39(3):303-6.

PMID:
19667416
17.

Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome.

Johnson KR, Cook SA, Erway LC, Matthews AN, Sanford LP, Paradies NE, Friedman RA.

Hum Mol Genet. 1999 Apr;8(4):645-53.

18.

Branchio-oto-renal syndrome.

Smith RJ, Schwartz C.

J Commun Disord. 1998 Sep-Oct;31(5):411-20; quiz 421. Review.

PMID:
9777487
19.
20.

Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.

Kumar S, Kimberling WJ, Weston MD, Schaefer BG, Berg MA, Marres HA, Cremers CW.

Hum Mutat. 1998;11(6):443-9.

PMID:
9603436
Items per page

Supplemental Content

Write to the Help Desk