Associated Papers
Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487).
Ren B et al.
Plos One, 2026
The role of gene mutations and immune responses in sensorineural hearing loss.
Zhang X et al.
International Immunopharmacology, 2024
Trends in the diagnosis of paediatric sensorineural hearing loss: a scoping review of gene panels, exome and genome sequencing.
Serrano-Herrera A et al.
International Journal of Audiology, 2024
Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.
Rajput K et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2024
Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.
Chen HK et al.
Bmc Medical Genomics, 2024
Next-generation sequencing for genetic testing of hearing loss populations.
Wang L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I et al.
Human Genetics, 2022
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Adeyemo A et al.
European Journal of Human Genetics : Ejhg, 2022
Targeted next-generation sequencing of deaf patients from Southwestern China.
Li Y et al.
Molecular Genetics & Genomic Medicine, 2021
Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.
Mittal R et al.
Gene, 2018
Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.
Tang F et al.
Bmc Medical Genetics, 2017
Deafness gene mutations in newborns in Beijing.
Han S et al.
Acta Oto-laryngologica, 2016
Republished: Genetic investigations in childhood deafness.
Parker M et al.
Postgraduate Medical Journal, 2015
Genetic investigations in childhood deafness.
Parker M et al.
Archives of Disease in Childhood, 2015
Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform.
Martins FT et al.
Bmc Medical Genetics, 2013
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
Iwasa Y et al.
Bmc Medical Genetics, 2013
PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
Tsai EA et al.
American Journal of Medical Genetics. Part A, 2013
A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.
Matsunaga T et al.
Clinical Genetics, 2012
Genetics of hearing and deafness.
Angeli S et al.
Anatomical Record (hoboken, N.j. : 2007), 2012
[Mutational analysis of candidate genes in a Chinese pedigree with dominantly inherited auditory neuropathy].
Lu X et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2012
Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.
Wu CC et al.
Plos One, 2011
Impact of gene patents and licensing practices on access to genetic testing for hearing loss.
Chandrasekharan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment.
Wu CC et al.
The Laryngoscope, 2009
Value of genetic testing in the otological approach for sensorineural hearing loss.
Matsunaga T
The Keio Journal of Medicine, 2009
[Sequence analysis of DFNB59 gene in a Chinese family with dominantly inherited auditory neuropathy].
Xu S et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2008
[Sequence analysis of OTOF gene in a Chinese pedigree with autosomal dominant auditory neuropathy].
Xu S et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2007
Molecular genetics study of deafness in Brazil: 8-year experience.
de Oliveira CA et al.
American Journal of Medical Genetics. Part A, 2007
Clinical and genetic features in a Chinese pedigree with autosomal dominant auditory neuropathy.
Xing G et al.
Orl; Journal for Oto-rhino-laryngology and Its Related Specialties, 2007
[Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset].
Gallo-Terán J et al.
Acta Otorrinolaringologica Espanola, 2005
A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.
Tekin M et al.
American Journal of Medical Genetics. Part A, 2005
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.
Wang Q et al.
American Journal of Medical Genetics. Part A, 2005
[Genetic study of hearing loss in families from Argentina].
Reynoso RA et al.
Revista De La Facultad De Ciencias Medicas (cordoba, Argentina), 2004
Genetic causes of hearing loss.
Willems PJ
The New England Journal of Medicine, 2000
Deafness genes and their diagnostic applications.
Cryns K et al.
Audiology & Neuro-otology, 0
Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds.
Kitao K et al.
Ear and Hearing, 0
Genetic and audiological determinants of hearing loss in high-risk neonates.
Shi Y et al.
Brazilian Journal of Otorhinolaryngology, 0