1 |
A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.
6
61
54
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Stockley TL...Papsin BC
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19206155 |
2009 |
2 |
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome.
54
61
6
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Kumar S...Cremers CW
|
9603436 |
1998 |
3 |
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
54
6
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Olavarrieta L...Moreno-Pelayo MA
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18177466 |
2008 |
4 |
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
6
61
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Hoskins BE...Hildebrandt F
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17357085 |
2007 |
5 |
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.
54
6
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Abdelhak S...Weil D
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9361030 |
1997 |
6 |
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing.
6
61
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Kumar S...Kimberling WJ
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10464653 |
1997 |
7 |
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum.
6
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Spruijt L...de Die-Smulders CE
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16691597 |
2006 |
8 |
Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes.
6
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Rickard S...Bitner-Glindzicz M
|
10991693 |
2000 |
9 |
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
6
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Abdelhak S...Petit C
|
9020840 |
1997 |
10 |
Familial hearing loss associated with branchial fistulas.
6
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Rowley PT
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5365063 |
1969 |
11 |
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.
61
54
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Morisada N...Kusuhara K
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20130917 |
2010 |
12 |
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.
54
61
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Li Y...Weeks DL
|
19951260 |
2010 |
13 |
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations.
54
61
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Patrick AN...Ford HL
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19497856 |
2009 |
14 |
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome.
61
54
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Bosman EA...Steel KP
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19389353 |
2009 |
15 |
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
54
61
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Jensen DR...Lesperance MM
|
19215039 |
2009 |
16 |
A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome.
61
54
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Lee JD...Kim UK
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19667416 |
2009 |
17 |
Differential expression of Eya1 and Eya2 during chick early embryonic development.
61
54
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Ishihara T...Kawakami K
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18316249 |
2008 |
18 |
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
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54
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Kochhar A...Smith RJ
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18330911 |
2008 |
19 |
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.
54
61
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Orten DJ...Kimberling WJ
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18220287 |
2008 |
20 |
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
54
61
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Sanggaard KM...Tranebjaerg L
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17637804 |
2007 |
21 |
Branchio-oto-renal syndrome.
61
54
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Kochhar A...Smith RJ
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2007 |
22 |
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1.
54
61
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Matsunaga T...Okuyama T
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17364338 |
2007 |
23 |
Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family.
54
61
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Lee KY...Lee SH
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17049623 |
2007 |
24 |
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
61
54
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Weber S...Salomon R
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16971658 |
2006 |
25 |
Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity.
61
54
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Rayapureddi JP...Hegde RS
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16797546 |
2006 |
26 |
[Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene].
54
61
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Markova TG
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17419499 |
2006 |
27 |
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.
54
61
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Mutsuddi M...Rebay I
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15802522 |
2005 |
28 |
EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome.
61
54
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Uno T...Shinomiya N
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2004 |
29 |
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10.
54
61
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Zhang Y...Smith RJ
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15492887 |
2004 |
30 |
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.
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54
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Chang EH...Smith RJ
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2004 |
31 |
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
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54
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Ruf RG...Hildebrandt F
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15141091 |
2004 |
32 |
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family.
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54
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Henriksen AM...Larsen LA
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15684871 |
2004 |
33 |
Branchio-oto-renal syndrome.
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61
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Rodriguez Soriano J
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2003 |
34 |
Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins.
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54
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Ozaki H...Kawakami K
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11950062 |
2002 |
35 |
Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene.
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54
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Rodriguez-Soriano J...Castano L
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2001 |
36 |
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.
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61
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Lin AE...Murray JC
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10767004 |
2000 |
37 |
Branchio-oculo-facial syndrome: case report.
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54
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Lin JL...Chen PK
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38 |
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family.
54
61
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Usami S...Kimberling WJ
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1999 |
39 |
Mcrs1 interacts with Six1 to influence early craniofacial and otic development.
61
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Neilson KM...Moody SA
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32891623 |
2020 |
40 |
Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review.
61
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Li HX...Zheng Y
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32689865 |
2020 |
41 |
[Enlarged vestibular aqueduct syndrome-dehiscence syndromes-honeycomb mastoid : Pathophysiology and evidence for clinical differentiation].
61
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Westhofen M
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2020 |
42 |
Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.
61
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Men M...Li JD
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30908667 |
2020 |
43 |
[Prenatal diagnosis of a case with Branchi-oto-renal syndrome].
61
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Mi X...Shen X
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44 |
[Congenital anomalies of the external ear].
61
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Wernheden E...Hesselfeldt-Nielsen J
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31791458 |
2019 |
45 |
Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports.
61
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Williams LE...Pfeifer CM
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31384484 |
2019 |
46 |
[Research progress of congenital preauricular fistula].
61
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Zhou P...Tao ZZ
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31163564 |
2019 |
47 |
Imaging Findings in Syndromes with Temporal Bone Abnormalities.
61
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Ginat DT
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30466636 |
2019 |
48 |
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome.
61
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Gana S...Bertini V
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31379922 |
2019 |
49 |
The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome.
61
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Hsu A...Paldino MJ
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30385470 |
2018 |
50 |
Second branchial cleft anomalies in children: a literature review.
61
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Shen LF...Yu Q
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30251021 |
2018 |