1 |
Identification of novel cis-regulatory elements of Eya1 in Xenopus laevis using BAC recombineering.
25
|
Maharana SK...Schlosser G
|
29101371 |
2017 |
2 |
Congenital hearing loss.
25
|
Korver AM...Boudewyns AN
|
28079113 |
2017 |
3 |
Timing, rates and spectra of human germline mutation.
25
|
Rahbari R...Hurles ME
|
26656846 |
2016 |
4 |
A framework for the interpretation of de novo mutation in human disease.
25
|
Samocha KE...Daly MJ
|
25086666 |
2014 |
5 |
Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.
25
|
Morisada N...Iijima K
|
24730701 |
2014 |
6 |
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.
25
|
Brophy PD...Manak JR
|
23851940 |
2013 |
7 |
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.
25
|
Mosrati MA...Masmoudi S
|
21700001 |
2011 |
8 |
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.
25
|
Krug P...Heidet L
|
21280147 |
2011 |
9 |
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
25
|
Sanchez-Valle A...Lalani SR
|
20979191 |
2010 |
10 |
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.
25
|
Patrick AN...Ford HL
|
19497856 |
2009 |
11 |
Multiple evolutionarily conserved enhancers control expression of Eya1.
25
|
Ishihara T...Kawakami K
|
18816442 |
2008 |
12 |
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
25
|
Kochhar A...Smith RJ
|
18330911 |
2008 |
13 |
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
25
|
Orten DJ...Kimberling WJ
|
18220287 |
2008 |
14 |
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
25
|
Sanggaard KM...Tranebjaerg L
|
17637804 |
2007 |
15 |
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
25
|
Hoskins BE...Hildebrandt F
|
17357085 |
2007 |
16 |
The transcription factor six1 inhibits neuronal and promotes hair cell fate in the developing zebrafish (Danio rerio) inner ear.
25
|
Bricaud O...Collazo A
|
17035528 |
2006 |
17 |
SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome.
25
|
Ito T...Kitamura K
|
16652090 |
2006 |
18 |
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
25
|
Estefania E...Vilches C
|
16441263 |
2006 |
19 |
Slc12a2 is a direct target of two closely related homeobox proteins, Six1 and Six4.
25
|
Ando Z...Kawakami K
|
15955062 |
2005 |
20 |
Using Drosophila to decipher how mutations associated with human branchio-oto-renal syndrome and optical defects compromise the protein tyrosine phosphatase and transcriptional functions of eyes absent.
25
|
Mutsuddi M...Rebay I
|
15802522 |
2005 |
21 |
Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome.
25
|
Kemperman MH...Cremers CW
|
15726843 |
2004 |
22 |
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10.
25
|
Zhang Y...Smith RJ
|
15492887 |
2004 |
23 |
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.
25
|
Chang EH...Smith RJ
|
15146463 |
2004 |
24 |
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
25
|
Ruf RG...Hildebrandt F
|
15141091 |
2004 |
25 |
A map of the interactome network of the metazoan C. elegans.
25
|
Li S...Vidal M
|
14704431 |
2004 |
26 |
Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis.
25
|
Li X...Rosenfeld MG
|
14628042 |
2003 |
27 |
Functional dissection of eyes absent reveals new modes of regulation within the retinal determination gene network.
25
|
Silver SJ...Rebay I
|
12917324 |
2003 |
28 |
Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome.
25
|
Kemperman MH...Cremers CW
|
12220207 |
2002 |
29 |
Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.
25
|
Ceruti S...Casselman JW
|
11875350 |
2002 |
30 |
The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study.
25
|
Stinckens C...Cremers CW
|
11397497 |
2001 |
31 |
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.
25
|
Rickard S...Bitner-Glindzicz M
|
11409867 |
2001 |
32 |
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.
25
|
Salam AA...Leal SM
|
10777717 |
2000 |
33 |
Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.
25
|
Azuma N...Yamada M
|
10655545 |
2000 |
34 |
Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya.
25
|
Ohto H...Kawakami K
|
10490620 |
1999 |
35 |
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
25
|
Kumar S...Cremers CW
|
9603436 |
1998 |
36 |
Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.
25
|
Fraser FC...Halal F
|
7468659 |
1980 |
37 |
Pa2G4 is a novel Six1 co-factor that is required for neural crest and otic development.
61
|
Neilson KM...Moody SA
|
27940157 |
2017 |
38 |
Branchiootorenal Spectrum Disorder
61
|
Smith RJH
|
20301554 |
1999 |