Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.
about
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexesTranscription factor SIX5 is mutated in patients with branchio-oto-renal syndromeMutation of the EYA1 gene in patients with branchio-oto syndromeGenomic rearrangements of EYA1 account for a large fraction of families with BOR syndromeGenetic screening for hearing loss.Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome.Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations.Branchio-oto-renal syndrome: Comprehensive review based on nationwide surveillance in Japan
P2860
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P2860
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.
description
2000 nî lūn-bûn
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2000 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի ապրիլին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
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name
Genomewide search and genetic ...... ical and genetic implications.
@ast
Genomewide search and genetic ...... ical and genetic implications.
@en
Genomewide search and genetic ...... ical and genetic implications.
@nl
type
label
Genomewide search and genetic ...... ical and genetic implications.
@ast
Genomewide search and genetic ...... ical and genetic implications.
@en
Genomewide search and genetic ...... ical and genetic implications.
@nl
prefLabel
Genomewide search and genetic ...... ical and genetic implications.
@ast
Genomewide search and genetic ...... ical and genetic implications.
@en
Genomewide search and genetic ...... ical and genetic implications.
@nl
P2093
P2860
P356
P1476
Genomewide search and genetic ...... ical and genetic implications.
@en
P2093
C W Cremers
H A Marres
K Deffenbacher
W J Kimberling
P2860
P304
P356
10.1086/302890
P407
P577
2000-04-03T00:00:00Z