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Results: 1 to 20 of 224

Similar articles for PubMed (Select 10767004)

1.

Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.

Lin AE, Semina EV, Daack-Hirsch S, Roeder ER, Curry CJ, Rosenbaum K, Weaver DD, Murray JC.

Am J Med Genet. 2000 Apr 24;91(5):387-90. Erratum in: Am J Med Genet 2000 Jul 17;93(2):169.

PMID:
10767004
3.

Branchio-oculo-facial syndrome: case report.

Lin JL, Chen PK.

Changgeng Yi Xue Za Zhi. 1999 Mar;22(1):128-32.

PMID:
10418222
4.
5.

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
6.

BOR and BO syndromes are allelic defects of EYA1.

Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, Vaneecloo FM, Petit C.

Eur J Hum Genet. 1997 Jul-Aug;5(4):242-6.

PMID:
9359046
7.

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
8.

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
9.

Identification of five novel BOR mutations in human EYA1 gene associated with branchio-oto-renal syndrome by a DHPLC-based assay.

Migliosi V, Flex E, Guida V, Martini A, Giarbini N, Markova T, Torrente I, Dallapiccola B.

Clin Genet. 2004 Nov;66(5):478-80. No abstract available.

PMID:
15479196
10.

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
11.

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
12.

Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.

Chang EH, Menezes M, Meyer NC, Cucci RA, Vervoort VS, Schwartz CE, Smith RJ.

Hum Mutat. 2004 Jun;23(6):582-9.

PMID:
15146463
13.

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
14.

Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.

Olavarrieta L, Morales-Angulo C, del Castillo I, Moreno F, Moreno-Pelayo MA.

Clin Genet. 2008 Mar;73(3):262-7. doi: 10.1111/j.1399-0004.2007.00947.x. Epub 2007 Dec 29.

PMID:
18177466
15.

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
16.

A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred.

Clarke JC, Honey EM, Bekker E, Snyman LC, Raymond RM Jr, Lord C, Brophy PD.

Clin Genet. 2006 Jul;70(1):63-7.

PMID:
16813606
17.
18.

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
19.

Branchio-oto-renal syndrome.

Smith RJ, Schwartz C.

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

PMID:
9777487
20.

EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family.

Usami S, Abe S, Shinkawa H, Deffenbacher K, Kumar S, Kimberling WJ.

J Hum Genet. 1999;44(4):261-5.

PMID:
10429368
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