Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing

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http://www.wikidata.org/entity/Q28143175
Transcriptional regulation of cranial sensory placode developmentGenomic rearrangements of EYA1 account for a large fraction of families with BOR syndromeDetermination of the embryonic inner ear.EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevisGenomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation.BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 proteinInduction and specification of the vertebrate ectodermal placodes: precursors of the cranial sensory organs.Establishing the pre-placodal region and breaking it into placodes with distinct identities.Genetic Advances in the Understanding of Microtia.Microarray identification of novel genes downstream of Six1, a critical factor in cranial placode, somite, and kidney developmentDevelopmental expression patterns of candidate cofactors for vertebrate six family transcription factors.Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome.Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.Microtia: epidemiology and genetics.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
P2860

Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing

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http://www.wikidata.org/entity/Q28143175
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Branchio-oto-renal syndrome: i ...... prospects for genetic testing
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Branchio-oto-renal syndrome: i ...... prospects for genetic testing
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Branchio-oto-renal syndrome: i ...... prospects for genetic testing
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Branchio-oto-renal syndrome: i ...... prospects for genetic testing
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Branchio-oto-renal syndrome: i ...... prospects for genetic testing
@en
Branchio-oto-renal syndrome: i ...... prospects for genetic testing
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Branchio-oto-renal syndrome: i ...... prospects for genetic testing
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Branchio-oto-renal syndrome: i ...... prospects for genetic testing
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Branchio-oto-renal syndrome: i ...... prospects for genetic testing
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P1433
P1476
P2093
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P31
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P433
P478
P698
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P1433
P1476
Branchio-oto-renal syndrome: i ...... prospects for genetic testing
@en
P2093
P304
P31
P356
P407
P433
P478
P698