Mutation screening of GJB2 and GJB6 and genetic linkage study of three prevalent DFNB loci in Iranian families with autosomal recessive non-syndromic hearing loss [PDF]
, 2010 Background and aim: The incidence of prelingual hearing loss (HL) is about 1 in 1000 neonates of which, more than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 100 loci have been identified.
Ashrafi, Koorosh. +8 more
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Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome. [PDF]
Case Rep EndocrinolCalcaterra V +9 more
europepmc +1 more source
Genetic screening for hearing loss of 38,589 neonates with follow-up in South China. [PDF]
Hum GenomicsGu X +11 more
europepmc +1 more source
Assessing the Functional Significance of Novel and Rare Variants of the <i>SLC26A4</i> Gene Found in Patients with Hearing Loss by Minigene Assay. [PDF]
Int J Mol SciDanilchenko VY +4 more
europepmc +1 more source
Prevalence of pendrin defects in sudanese families with congenital hypothyroidism. [PDF]
EndocrineIslam MS +4 more
europepmc +1 more source
Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families. [PDF]
Mol Biol RepJagannath K +5 more
europepmc +1 more source
SLC26A4Mutations in Korean Population
Korean Journal of Otorhinolaryngology-Head and Neck Surgery, 2014 openaire +1 more source
Analysis of deafness gene screening results in 15771 newborn cases in Anyang city of Henan. [PDF]
Front PediatrMu Y +9 more
europepmc +1 more source
Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand. [PDF]
Sci RepDamrongchietanon T +8 more
europepmc +1 more source
A Six-Gene Mitochondrial Signature Predicts Prognosis in Dedifferentiated Thyroid Cancer. [PDF]
Int J Gen MedLu C, Wang X.
europepmc +1 more source