| 1 |
Identification of novel cis-regulatory elements of Eya1 in Xenopus laevis using BAC recombineering.
4
|
Maharana SK...Schlosser G
|
29101371
|
2017 |
| 2 |
Congenital hearing loss.
4
|
Korver AM...Boudewyns AN
|
28079113
|
2017 |
| 3 |
Timing, rates and spectra of human germline mutation.
4
|
Rahbari R...Hurles ME
|
26656846
|
2016 |
| 4 |
A framework for the interpretation of de novo mutation in human disease.
4
|
Samocha KE...Daly MJ
|
25086666
|
2014 |
| 5 |
Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.
4
|
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.
4
|
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.
4
|
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.
4
|
Krug P...Heidet L
|
21280147
|
2011 |
| 9 |
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.
4
|
Sanchez-Valle A...Lalani SR
|
20979191
|
2010 |
| 10 |
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.
4
|
Patrick AN...Ford HL
|
19497856
|
2009 |
| 11 |
Multiple evolutionarily conserved enhancers control expression of Eya1.
4
|
Ishihara T...Kawakami K
|
18816442
|
2008 |
| 12 |
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
4
|
Orten DJ...Kimberling WJ
|
18220287
|
2008 |
| 13 |
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
4
|
Kochhar A...Smith RJ
|
18330911
|
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.
4
|
Sanggaard KM...Tranebjaerg L
|
17637804
|
2007 |
| 15 |
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
4
|
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.
4
|
Bricaud O...Collazo A
|
17035528
|
2006 |
| 17 |
SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome.
4
|
Ito T...Kitamura K
|
16652090
|
2006 |
| 18 |
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.
4
|
Estefania E...Vilches C
|
16441263
|
2006 |
| 19 |
Slc12a2 is a direct target of two closely related homeobox proteins, Six1 and Six4.
4
|
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.
4
|
Mutsuddi M...Rebay I
|
15802522
|
2005 |
| 21 |
Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome.
4
|
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.
4
|
Zhang Y...Smith RJ
|
15492887
|
2004 |
| 23 |
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.
4
|
Chang EH...Smith RJ
|
15146463
|
2004 |
| 24 |
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
4
|
Ruf RG...Hildebrandt F
|
15141091
|
2004 |
| 25 |
A map of the interactome network of the metazoan C. elegans.
4
|
Li S...Vidal M
|
14704431
|
2004 |
| 26 |
Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis.
4
|
Li X...Rosenfeld MG
|
14628042
|
2003 |
| 27 |
Functional dissection of eyes absent reveals new modes of regulation within the retinal determination gene network.
4
|
Silver SJ...Rebay I
|
12917324
|
2003 |
| 28 |
Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome.
4
|
Kemperman MH...Cremers CW
|
12220207
|
2002 |
| 29 |
Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.
4
|
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.
4
|
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.
4
|
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.
4
|
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.
4
|
Azuma N...Yamada M
|
10655545
|
2000 |
| 34 |
Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya.
4
|
Ohto H...Kawakami K
|
10490620
|
1999 |
| 35 |
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
4
|
Kumar S...Cremers CW
|
9603436
|
1998 |
| 36 |
Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.
4
|
Fraser FC...Halal F
|
7468659
|
1980 |
| 37 |
Pa2G4 is a novel Six1 co-factor that is required for neural crest and otic development.
38
|
Neilson KM...Moody SA
|
27940157
|
2017 |
| 38 |
Branchiootorenal Spectrum Disorder
38
|
Smith RJH
|
20301554
|
1999 |
