A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.
about
Transcriptional regulation of cranial sensory placode developmentUsing Xenopus to discover new genes involved in branchiootorenal spectrum disordersAnatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.Microarray identification of novel genes downstream of Six1, a critical factor in cranial placode, somite, and kidney developmentSpectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
P2860
Q28081644-9268727D-9353-4213-84FB-13129D8A1D6BQ28607001-B3612592-F171-4224-8361-82BFDB07A34DQ30411422-B961AA8B-ABE6-44BD-8235-9D5FFD40B128Q34806757-B923070D-E62B-4DF0-AC74-F587B9F33FB9Q40567443-A3806ABA-27E4-401D-88B9-3A0253776A0CQ40681828-BB4A275C-BC4C-4BF6-B299-F6EA07546BA4Q50357721-7A8591BD-2301-4AA1-9AC9-FB558259C624
P2860
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
A novel dominant mutation in S ...... ly auditory defects in humans.
@en
A novel dominant mutation in S ...... ly auditory defects in humans.
@nl
type
label
A novel dominant mutation in S ...... ly auditory defects in humans.
@en
A novel dominant mutation in S ...... ly auditory defects in humans.
@nl
prefLabel
A novel dominant mutation in S ...... ly auditory defects in humans.
@en
A novel dominant mutation in S ...... ly auditory defects in humans.
@nl
P2093
P1476
A novel dominant mutation in S ...... ly auditory defects in humans.
@en
P2093
Abdelmonem Ghorbel
Bochra Hakim
Boutheina Hammami
Ilhem Charfeddine
Imen Ben Rebeh
Jameleddine Mnif
Khaireddine Ben Mahfoudh
Leila Ayadi
Leila Dhouib
Mohamed Ali Mosrati
P304
P356
10.1016/J.EJMG.2011.06.001
P577
2011-06-15T00:00:00Z