| 1 |
Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism. ( 28937080
)
|
David J.J....Shanbag P.
|
2017 |
| 2 |
Bilateral Compressive Optic Neuropathy from Renal Osteodystrophy Caused by Branchio-oto-renal Syndrome Stabilised After Parathyroidectomy. ( 29344072
)
|
Sundaram A.N.E....Kumar S.
|
2017 |
| 3 |
Novel EYA1 variants causing Branchio-oto-renal syndrome. ( 28583505
)
|
Klingbeil K.D....Tekin M.
|
2017 |
| 4 |
Anatomic and Quantitative Temporal Bone CT for Preoperative Assessment of Branchio-Oto-Renal Syndrome. ( 26869444
)
|
Ginat D.T....Gluth M.B.
|
2016 |
| 5 |
Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. ( 24730701
)
|
Morisada N....Iijima K.
|
2014 |
| 6 |
Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks. ( 25135225
)
|
Chen X....Shen Y.
|
2014 |
| 7 |
Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation. ( 23506628
)
|
Gigante M....Gesualdo L.
|
2013 |
| 8 |
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. ( 23851940
)
|
Brophy P.D....Manak J.R.
|
2013 |
| 9 |
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome. ( 22447252
)
|
Wang S.H....Hsu C.J.
|
2012 |
| 10 |
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. ( 21280147
)
|
Krug P....Heidet L.
|
2011 |
| 11 |
Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene. ( 21955869
)
|
Nardi E....Cerasola G.
|
2011 |
| 12 |
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. ( 19951260
)
|
Li Y....Weeks D.L.
|
2010 |
| 13 |
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. ( 20130917
)
|
Morisada N....Kusuhara K.
|
2010 |
| 14 |
Mitral valve prolapse as a new finding in branchio-oto-renal syndrome. ( 20845527
)
|
AyAsiAsek A....Solak M.
|
2010 |
| 15 |
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. ( 20979191
)
|
Sanchez-Valle A....Lalani S.R.
|
2010 |
| 16 |
A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome. ( 19667416
)
|
Lee J.D....Kim U.K.
|
2009 |
| 17 |
A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. ( 19206155
)
|
Stockley T.L....Papsin B.C.
|
2009 |
| 18 |
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. ( 19389353
)
|
Bosman E.A....Steel K.P.
|
2009 |
| 19 |
Biochemical and functional characterization of six SIX1 Branchio-oto- renal syndrome mutations. ( 19497856
)
|
Patrick A.N....Ford H.L.
|
2009 |
| 20 |
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. ( 18330911
)
|
Kochhar A....Smith R.J.
|
2008 |
| 21 |
Branchio-oto-renal syndrome. ( 19263692
)
|
Garg A....Kumar A.
|
2008 |
| 22 |
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. ( 18220287
)
|
Orten D.J....Kimberling W.J.
|
2008 |
| 23 |
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. ( 18177466
)
|
Olavarrieta L....Moreno-Pelayo M.A.
|
2008 |
| 24 |
Branchio-oto-renal syndrome. ( 17238186
)
|
Kochhar A....Smith R.J.
|
2007 |
| 25 |
Transcription factor SIX5 is mutated in patients with branchio-oto- renal syndrome. ( 17357085
)
|
Hoskins B.E....Hildebrandt F.
|
2007 |
| 26 |
Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. ( 17049623
)
|
Lee K.Y....Lee S.H.
|
2007 |
| 27 |
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. ( 17364338
)
|
Matsunaga T....Okuyama T.
|
2007 |
| 28 |
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. ( 17637804
)
|
Sanggaard K.M....Tranebjaerg L.
|
2007 |
| 29 |
[Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene]. ( 17419499
)
|
Markova T.G.
|
2006 |
| 30 |
Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. ( 16797546
)
|
Rayapureddi J.P....Hegde R.S.
|
2006 |
| 31 |
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. ( 15802522
)
|
Mutsuddi M....Rebay I.
|
2005 |
| 32 |
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. ( 15684871
)
|
Henriksen A.M....Larsen L.A.
|
2004 |
| 33 |
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. ( 15492887
)
|
Zhang Y....Smith R.J.
|
2004 |
| 34 |
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. ( 15141091
)
|
Ruf R.G....Hildebrandt F.
|
2004 |
| 35 |
EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome. ( 15491396
)
|
Uno T....Shinomiya N.
|
2004 |
| 36 |
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. ( 15146463
)
|
Chang E.H....Smith R.J.
|
2004 |
| 37 |
Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: branchio-oto-renal syndrome or hemifacial microsomia with additional findings. ( 12884440
)
|
Ozkinay F....Tacoy S.
|
2003 |
| 38 |
Branchio-oto-renal syndrome. ( 14696767
)
|
RodrA-guez Soriano J.
|
2003 |
| 39 |
Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings. ( 11875350
)
|
Ceruti S....Casselman J.W.
|
2002 |
| 40 |
Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins. ( 11950062
)
|
Ozaki H....Kawakami K.
|
2002 |
| 41 |
Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome. ( 11568672
)
|
Kemperman M.H....Cremers C.W.
|
2001 |
| 42 |
Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene. ( 11465802
)
|
RodrA-guez-Soriano J....CastaA+o L.
|
2001 |
| 43 |
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. ( 10762556
)
|
Kumar S....Kimberling W.J.
|
2000 |
| 44 |
A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. ( 10928856
)
|
Engels S....McGaughran J.
|
2000 |
| 45 |
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. ( 10767004
)
|
Lin A.E....Murray J.C.
|
2000 |
| 46 |
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. ( 10429368
)
|
Usami S....Kimberling W.J.
|
1999 |
| 47 |
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. ( 9603436
)
|
Kumar S....Cremers C.W.
|
1998 |
| 48 |
Branchio-oto-renal syndrome. ( 9777487
)
|
Smith R.J....Schwartz C.
|
1998 |
| 49 |
Branchio-oto-renal syndrome (BOR syndrome, Melnick-Fraser syndrome). ( 9557405
)
|
Olney A.H....Kolodziej P.
|
1998 |
| 50 |
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. ( 10464653
)
|
Kumar S....Kimberling W.J.
|
1997 |
