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Items: 1 to 20 of 116

1.

Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.

Song MH, Kwon TJ, Kim HR, Jeon JH, Baek JI, Lee WS, Kim UK, Choi JY.

PLoS One. 2013 Jun 28;8(6):e67236. doi: 10.1371/journal.pone.0067236. Print 2013.

2.

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.

Krug P, Morinière V, Marlin S, Koubi V, Gabriel HD, Colin E, Bonneau D, Salomon R, Antignac C, Heidet L.

Hum Mutat. 2011 Feb;32(2):183-90. doi: 10.1002/humu.21402.

PMID:
21280147
3.

Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.

Wang SH, Wu CC, Lu YC, Lin YH, Su YN, Hwu WL, Yu IS, Hsu CJ.

Laryngoscope. 2012 May;122(5):1130-6. doi: 10.1002/lary.23217. Epub 2012 Mar 23.

PMID:
22447252
4.

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L.

Eur J Hum Genet. 2007 Nov;15(11):1121-31. Epub 2007 Jul 18.

5.

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F.

Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. Epub 2004 May 12.

6.

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F.

Am J Hum Genet. 2007 Apr;80(4):800-4. Epub 2007 Feb 22.

7.

Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.

Morisada N, Nozu K, Iijima K.

Pediatr Int. 2014 Jun;56(3):309-14. doi: 10.1111/ped.12357. Review.

PMID:
24730701
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.

SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.

Kochhar A, Orten DJ, Sorensen JL, Fischer SM, Cremers CW, Kimberling WJ, Smith RJ.

Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20714.

PMID:
18330911
10.

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
11.

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.

12.

EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.

Li Y, Manaligod JM, Weeks DL.

Biol Cell. 2010 Feb 17;102(5):277-92. doi: 10.1042/BC20090098.

13.

A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome.

Kwon MJ, Boo SH, Kim HJ, Cho YS, Chung WH, Hong SH.

Acta Otolaryngol. 2009 Jun;129(6):688-93. doi: 10.1080/00016480802342432.

PMID:
18763178
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.

Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.

Gigante M, d'Altilia M, Montemurno E, Diella S, Bruno F, Netti GS, Ranieri E, Stallone G, Infante B, Grandaliano G, Gesualdo L.

BMC Nephrol. 2013 Mar 18;14:60. doi: 10.1186/1471-2369-14-60.

16.

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
17.

Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.

Brophy PD, Alasti F, Darbro BW, Clarke J, Nishimura C, Cobb B, Smith RJ, Manak JR.

Hum Genet. 2013 Dec;132(12):1339-50. doi: 10.1007/s00439-013-1338-8. Epub 2013 Jul 13.

18.

Branchio-oto-renal syndrome.

Kochhar A, Fischer SM, Kimberling WJ, Smith RJ.

Am J Med Genet A. 2007 Jul 15;143A(14):1671-8. Review.

PMID:
17238186
19.

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
20.

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

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