Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.
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An Introduction to the Genetics of Normal and Defective HearingSIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexesBiochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutationsTranscription factor SIX5 is mutated in patients with branchio-oto-renal syndromeGenomic rearrangements of EYA1 account for a large fraction of families with BOR syndromeEya1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of Branchio-Oto-Renal (BOR) syndromeSipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial developmentEya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner earPatterning of the third pharyngeal pouch into thymus/parathyroid by Six and Eya1Using Xenopus to discover new genes involved in branchiootorenal spectrum disordersIncudomalleal joint formation: the roles of apoptosis, migration and downregulation.Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.Balancing cell numbers during organogenesis: Six1a differentially affects neurons and sensory hair cells in the inner ear.Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocksGenomewide 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.Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 proteinRefining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping.Non-inherited manifestation of bilateral branchial fistulae, bilateral pre-auricular sinuses and bilateral hearing loss: A variant of branchio-oto-renal syndrome.Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.Eya1 gene dosage critically affects the development of sensory epithelia in the mammalian inner ear.Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.The EYA-SO/SIX complex in development and disease.Inherited hearing loss: molecular genetics and diagnostic testing.Phenotypic variation in LADD syndromeEnd-stage renal failure associated with congenital deafness.Germinal mosaicism in a family with BO syndrome.Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome.Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? A Case Report.Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome.A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome.EYA1 expression in the developing inner ear.Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.Hearing loss and renal syndromes.Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.Novel EYA1 variants causing Branchio-oto-renal syndrome.Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family.[Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH].Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.
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P2860
Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.
description
1980 nî lūn-bûn
@nan
1980年の論文
@ja
1980年学术文章
@wuu
1980年学术文章
@zh
1980年学术文章
@zh-cn
1980年学术文章
@zh-hans
1980年学术文章
@zh-my
1980年学术文章
@zh-sg
1980年學術文章
@yue
1980年學術文章
@zh-hant
name
Frequency of the branchio-oto- ...... en with profound hearing loss.
@en
Frequency of the branchio-oto-renal
@nl
type
label
Frequency of the branchio-oto- ...... en with profound hearing loss.
@en
Frequency of the branchio-oto-renal
@nl
prefLabel
Frequency of the branchio-oto- ...... en with profound hearing loss.
@en
Frequency of the branchio-oto-renal
@nl
P2093
P356
P1476
Frequency of the branchio-oto- ...... en with profound hearing loss.
@en
P2093
P304
P356
10.1002/AJMG.1320070316
P577
1980-01-01T00:00:00Z