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Journal of Human Genetics, ISSN 1434-5161, 2014, Volume 59, Issue 5, pp. 262 - 268
Journal Article
The Annals of otology, rhinology, and laryngology, ISSN 0003-4894, 05/2015, Volume 124, Issue 1, pp. 61S - 76S
Journal Article
Annals of Otology, Rhinology & Laryngology, ISSN 0003-4894, 5/2015, Volume 124, Issue 1_suppl, pp. 61S - 76S
Journal Article
Acta Oto-Laryngologica, ISSN 0001-6489, 05/2016, Volume 136, Issue 5, pp. 475 - 479
Objective To determine the incidence of congenital hearing loss (HL) in newborns by the rate of deafness-related genetic mutations. Design Clinical study of... 
genes | mass screening | Hearing loss | Mass screening | Genes | MOLECULAR ETIOLOGY | GJB2 | NONSYNDROMIC HEARING IMPAIRMENT | OTORHINOLARYNGOLOGY | PREVALENCE | SLC26A4 | CHINESE POPULATION | AGE | Cities - statistics & numerical data | Deafness - genetics | China | Humans | Female | Male | Mutation | Neonatal Screening | Infant, Newborn
Journal Article
The Laryngoscope, ISSN 0023-852X, 11/2019, Volume 129, Issue 11, pp. 2574 - 2579
Objective To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of mutations (M0) in SLC26A4 to inner ear morphology and hearing... 
EVA | Pendred syndrome | DFNB4 | genotype vs. phenotype | nonsyndromic enlarged vestibular aqueduct | SLC26A4 | inner ear morphology | Gene mutations | Genetic aspects
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1172 - 1180
One of most important factors for messenger RNA (mRNA) transcription is the spliceosomal component U1 small nuclear RNA (snRNA), which recognizes 5′ splicing... 
splicing | SLC26A4 | antisense oligonucleotide | splicing correction | U1 snRNA | PENDRED-SYNDROME | DEFECTS | SMALL NUCLEAR-RNA | GENETIC CAUSES | IDENTIFICATION | CORRECT | FAMILIES | GENETICS & HEREDITY | ENLARGED VESTIBULAR AQUEDUCT | SPECTRUM | INSIGHTS | Genetic aspects | Messenger RNA | Genetic transcription | Hearing loss | Splicing | Transcription | Antisense oligonucleotides | Mutation | Hearing impairment | snRNA | Binding sites
Journal Article
The Laryngoscope, ISSN 0023-852X, 08/2016, Volume 126, Issue 8, pp. E286 - E291
Journal Article
by Han, SJ and Yang, XJ and Zhou, Y and Hao, JS and Shen, AD and Xu, F and Chu, P and Jin, YQ and Lu, J and Guo, YL and Shi, J and Liu, HH and Ni, X
ACTA OTO-LARYNGOLOGICA, ISSN 0001-6489, 05/2016, Volume 136, Issue 5-6, pp. 475 - 479
Objective To determine the incidence of congenital hearing loss (HL) in newborns by the rate of deafness-related genetic mutations. Design Clinical study of... 
MOLECULAR ETIOLOGY | GJB2 | NONSYNDROMIC HEARING IMPAIRMENT | genes | OTORHINOLARYNGOLOGY | mass screening | PREVALENCE | SLC26A4 | CHINESE POPULATION | Hearing loss | AGE
Journal Article
Gene, ISSN 0378-1119, 08/2013, Volume 525, Issue 1, pp. 1 - 4
Hearing loss is the most frequent sensory disorder. It affects 3 in 1000 newborns. It is genetically heterogeneous with 60 causally-related genes identified to... 
Connexin 26 | Deafness | Tunisia | CONNEXIN 26 MUTATIONS | DNA | FREQUENCY | GAP | GENETICS & HEREDITY | PREVALENCE | SLC26A4 | REGION | IMPAIRMENT | Gene Frequency | Humans | Child, Preschool | Connexins - genetics | Infant | Male | Genes, Recessive | Hearing Loss - genetics | Adolescent | Alleles | Female | Mutation | Child | Genetic research | Genetic aspects | Gene mutations | Genes | Hearing loss | Life Sciences
Journal Article
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 10/2019, Volume 125, pp. 1 - 5
The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. In spite of this, mutations in the gene, have been reported to... 
Genetic counseling | Iranian population | Non-syndromic hearing loss | SLC26A4 | PENDRED-SYNDROME | GJB2 MUTATIONS | CHINESE | IDENTIFICATION | IMPAIRMENT | GENE | OTORHINOLARYNGOLOGY | FREQUENCY | PEDIATRICS | DEAFNESS | SPECTRUM | PROBANDS | Gene mutations | Analysis | Medical genetics | Genetic aspects | Hearing loss | Data entry
Journal Article