| 1 |
Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy. ( 30908667
)
|
Men M...Li JD
|
2019 |
| 2 |
Branchiootorenal syndrome: A case report. ( 29676348
)
|
Nasir S.B....Jibrin J.
|
2018 |
| 3 |
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome. ( 29500469
)
|
Unzaki A...Iijima K
|
2018 |
| 4 |
A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome. ( 29552445
)
|
Li G...Xu H
|
2018 |
| 5 |
A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome. ( 30086703
)
|
Wang YG...Lu W
|
2018 |
| 6 |
Transmastoid access in branchio-oto-renal syndrome: A reappraisal of computed tomography imaging. ( 30262375
)
|
Parkes WJ...Papsin BC
|
2018 |
| 7 |
The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome. ( 30385470
)
|
Hsu A...Paldino MJ
|
2018 |
| 8 |
Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism. ( 28937080
)
|
David J.J....Shanbag P.
|
2017 |
| 9 |
Bilateral Compressive Optic Neuropathy from Renal Osteodystrophy Caused by Branchio-oto-renal Syndrome Stabilised After Parathyroidectomy. ( 29344072
)
|
Sundaram A.N.E....Kumar S.
|
2017 |
| 10 |
Novel EYA1 variants causing Branchio-oto-renal syndrome. ( 28583505
)
|
Klingbeil K.D....Tekin M.
|
2017 |
| 11 |
Anesthetic management of a patient with branchio-oto-renal syndrome. ( 29090252
)
|
Tsukamoto M...Yokoyama T
|
2017 |
| 12 |
Anatomic and Quantitative Temporal Bone CT for Preoperative Assessment of Branchio-Oto-Renal Syndrome. ( 26869444
)
|
Ginat D.T....Gluth M.B.
|
2016 |
| 13 |
Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome. ( 28289595
)
|
Spahiu L...Jashari H
|
2016 |
| 14 |
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester. ( 26227013
)
|
Bertucci E...Percesepe A
|
2015 |
| 15 |
Branchiootorenal syndrome with skeletal defects: a novel association in a Mexican child. ( 25380322
)
|
Salinas-Torres V.M....Rivera H.
|
2014 |
| 16 |
Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. ( 24730701
)
|
Morisada N....Iijima K.
|
2014 |
| 17 |
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 |
| 18 |
Branchio-oto-renal syndrome. ( 24848399
)
|
Jalil J...Shafique M
|
2014 |
| 19 |
Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review. ( 25992067
)
|
Lindau TA...Giacheti CM
|
2014 |
| 20 |
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 |
| 21 |
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 |
| 22 |
A different type of branchial fistula as part of a branchiootorenal syndrome. ( 22325402
)
|
Can I.H....Samim E.E.
|
2012 |
| 23 |
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 |
| 24 |
Branchio-oto-renal syndrome with obstructive sleep apnoea. ( 22891008
)
|
Chavan A...Ross-Russell RI
|
2012 |
| 25 |
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 |
| 26 |
Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene. ( 21955869
)
|
Nardi E....Cerasola G.
|
2011 |
| 27 |
Diagnostic and surgical challenge: middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies. ( 21868107
)
|
Johnston DR...Perez-Atayde AR
|
2011 |
| 28 |
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. ( 19951260
)
|
Li Y....Weeks D.L.
|
2010 |
| 29 |
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. ( 20130917
)
|
Morisada N....Kusuhara K.
|
2010 |
| 30 |
Mitral valve prolapse as a new finding in branchio-oto-renal syndrome. ( 20845527
)
|
AyAsiAsek A....Solak M.
|
2010 |
| 31 |
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. ( 20979191
)
|
Sanchez-Valle A....Lalani S.R.
|
2010 |
| 32 |
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 |
| 33 |
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 |
| 34 |
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 |
| 35 |
Biochemical and functional characterization of six SIX1 Branchio-oto- renal syndrome mutations. ( 19497856
)
|
Patrick A.N....Ford H.L.
|
2009 |
| 36 |
From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature. ( 19302870
)
|
Senel E....Senel S.
|
2009 |
| 37 |
Additional temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. ( 19213038
)
|
Senel E...Senel S
|
2009 |
| 38 |
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. ( 18666230
)
|
Ou Z....Cheung S.W.
|
2008 |
| 39 |
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. ( 18330911
)
|
Kochhar A....Smith R.J.
|
2008 |
| 40 |
Branchio-oto-renal syndrome. ( 19263692
)
|
Garg A....Kumar A.
|
2008 |
| 41 |
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 |
| 42 |
Branchio-oto-renal syndrome. ( 17238186
)
|
Kochhar A....Smith R.J.
|
2007 |
| 43 |
Transcription factor SIX5 is mutated in patients with branchio-oto- renal syndrome. ( 17357085
)
|
Hoskins B.E....Hildebrandt F.
|
2007 |
| 44 |
Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. ( 17049623
)
|
Lee K.Y....Lee S.H.
|
2007 |
| 45 |
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 |
| 46 |
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 |
| 47 |
Bradycardia with sevoflurane in siblings with Branchio-oto-renal syndrome. ( 17184439
)
|
Taylor MH...Wilton NC
|
2007 |
| 48 |
Cochlear implantation in branchio-oto-renal syndrome - A surgical challenge. ( 23120453
)
|
Kameswaran M...Karthikeyan K
|
2007 |
| 49 |
[Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene]. ( 17419499
)
|
Markova T.G.
|
2006 |
| 50 |
Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. ( 16797546
)
|
Rayapureddi J.P....Hegde R.S.
|
2006 |
Rare renal diseases
