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(deaf mutism)
40,500 results
  • Neonatal cholestasis, hyperferritinemia, hypoglycemia and deafness: a diagnostic challenge. [Journal Article]
    BMJ Case Rep 2019; 12(11)van Westering-Kroon E, Heijligers M, Hütten MC
  • Neonatal conjugated hyperbilirubinemia is a diagnostic challenge. A full term, small for gestational age boy presented with cholestasis, hypoglycemia, hyperferritinemia and severe bilateral deafness. Diagnostic work-up revealed two hereditary diseases: alpha-1-antitrypsin deficiency (PI*ZZ genotype) and autosomal recessive deafness type 3 (compound heterozygous MYO15A gene mutation). In addition,…
  • Gene therapy for genetic mutations affecting non-sensory cells in the cochlea. [Review]
    Hear Res 2019; :107858Zhang L, Wu X, Lin X
  • Congenital hearing loss (HL) affects about 1 in every 500 infants. Among those affected more than half are caused by genetic mutations. According to the cellular sites affected by mutations in the cochlea, deafness genes could be classified into three major groups: those affecting the function of hair cells and synapses, cochlear supporting cells, and cells in the stria vascularis (SV) as well as…
  • Face recognition and memory in congenital amusia. [Journal Article]
    PLoS One 2019; 14(12):e0225519Tao W, Huang H, … Sun HJ
  • Congenital amusia, commonly known as tone deafness, is a lifelong impairment of music perception and production. It remains a question of debate whether the impairments in musical domain observed in congenital amusia are paralleled in other non-musical perceptual abilities. Using behavioral measures in two experiments, the current study explored face perception and memory in congenital amusics. B…
  • Identification of MYO6 copy number variation associated with cochlear aplasia by targeted sequencing. [Journal Article]
    Int J Pediatr Otorhinolaryngol 2019; 128:109689Sun L, Wang X, … Yang J
  • Copy number variation is an extensively studied cause of hereditary diseases. However, its role in hereditary sensorineural deafness has been rarely reported. Using targeted sequencing, SNP array and qPCR, we found a novel 622.2 kb duplication of 6q14.1 in a patient with congenital sensorineural hearing loss and cochlear aplasia. The duplication included MYO6 and IMPG1 genes. FISH study confirmed…
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