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Items: 1 to 20 of 160

1.

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, König R, Vigneron J, Weissenbach J, Petit C, Weil D.

Hum Mol Genet. 1997 Dec;6(13):2247-55.

PMID:
9361030
2.

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C.

Nat Genet. 1997 Feb;15(2):157-64.

PMID:
9020840
3.

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
4.

Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome.

Buller C, Xu X, Marquis V, Schwanke R, Xu PX.

Hum Mol Genet. 2001 Nov 15;10(24):2775-81.

PMID:
11734542
5.

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
6.

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
7.

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
9.

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.

10.

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
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.
13.
14.

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
15.

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
16.
17.

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.

18.

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.

Stockley TL, Mendoza-Londono R, Propst EJ, Sodhi S, Dupuis L, Papsin BC.

Am J Med Genet A. 2009 Mar;149A(3):322-7. doi: 10.1002/ajmg.a.32679.

PMID:
19206155
19.
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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