SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.

scientific article published on 22 January 2013

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/CGE.12074
P698PubMed publication ID23336812
P5875ResearchGate publication ID234822093

P50authorZeynep TumerQ57568842
P2093author name stringL Tranebjaerg
I Schrijver
M Lodahl
N D Rendtorff
T Johnsen
J Rodriguez-Paris
E C Hansén
L A A Nickelsen
R Wetke
T Fagerheim
P2860cites workMutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution meltingQ35069947
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVAQ36976334
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humansQ46350444
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).Q50437495
Causes of hearing impairment in the Norwegian paediatric cochlear implant programQ50437687
P433issue4
P304page(s)388-391
P577publication date2013-01-22
P1433published inClinical GeneticsQ5133760
P1476titleSLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations
P478volume84

Reverse relations

cites work (P2860)
Q50307265A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
Q30403140A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China
Q38848690Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications
Q41091624Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing
Q90460593Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population
Q37426513Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China
Q34960772Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts
Q64243010Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis
Q55340300Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
Q38214755Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.
Q46298127Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

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