A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans

scientific article published on 15 June 2011

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.EJMG.2011.06.001
P698PubMed publication ID21700001

P2093author name stringAbdelmonem Ghorbel
Saber Masmoudi
Bochra Hakim
Imen Ben Rebeh
Leila Ayadi
Ilhem Charfeddine
Boutheina Hammami
Jameleddine Mnif
Khaireddine Ben Mahfoudh
Leila Dhouib
Mohamed Ali Mosrati
P433issue5
P304page(s)e484-8
P577publication date2011-06-15
P1433published inEuropean Journal of Medical GeneticsQ15817083
P1476titleA novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans
P478volume54

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cites work (P2860)
Q90602884A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss
Q30411422Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review
Q40567443Microarray identification of novel genes downstream of Six1, a critical factor in cranial placode, somite, and kidney development
Q34806757Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.
Q50357721SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
Q89734622Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss
Q40681828Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Q28081644Transcriptional regulation of cranial sensory placode development
Q28607001Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders

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