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Quoted phrase not found in phrase index: "Autosomal dominant nonsyndromic hearing loss 10"
Page 1
Identification of homozygous mutations for hearing loss.
Dianatpour M, Smith E, Hashemi SB, Farazifard MA, Nezafat N, Razban V, Mani A. Dianatpour M, et al. Gene. 2021 Apr 30;778:145464. doi: 10.1016/j.gene.2021.145464. Epub 2021 Jan 29. Gene. 2021. PMID: 33524517 Free PMC article.
The disease has major genetic components, and can be inherited as a single gene disorder either in autosomal dominant or recessive fashions. Due to the high rate of consanguineous unions, Iran has one of the highest prevalence of autosomal recessive nonsyn …
The disease has major genetic components, and can be inherited as a single gene disorder either in autosomal dominant or reces …
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
Cesca F, Bettella E, Polli R, Cama E, Scimemi P, Santarelli R, Murgia A. Cesca F, et al. Int J Pediatr Otorhinolaryngol. 2018 Jan;104:88-93. doi: 10.1016/j.ijporl.2017.10.042. Epub 2017 Oct 31. Int J Pediatr Otorhinolaryngol. 2018. PMID: 29287889
The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic cause of the hearing loss in members of a family in which different forms of autosomal dominant deafness segregate. These result …
The use of NGS targeted gene-panel, in combination with an extensive clinical and audiological examination led us to identify the genetic ca …