Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment
L Jonard, D Brotto, MA Moreno-Pelayo, I Del Castillo… - Audiology …, 2023 - mdpi.com
The cause of childhood hearing impairment (excluding infectious pathology of the middle
ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug ototoxicity, noise trauma …
ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug ototoxicity, noise trauma …
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing …
Y Lu, X Zhou, Z Jin, J Cheng, W Shen, F Ji… - Journal of human …, 2014 - nature.com
Here, we report an unconventional Chinese pedigree consisting of three branches all
segregating prelingual hearing loss (HL) with unclear inheritance pattern. After identifying …
segregating prelingual hearing loss (HL) with unclear inheritance pattern. After identifying …
Non-syndromic hearing loss: clinical and diagnostic challenges
B Vona, J Doll, MAH Hofrichter, T Haaf - Medizinische genetik, 2020 - degruyter.com
Hereditary hearing loss is clinically and genetically heterogeneous. There are presently over
120 genes that have been associated with non-syndromic hearing loss and many more that …
120 genes that have been associated with non-syndromic hearing loss and many more that …
Achievements of the European Working Group on genetics of hearing impairment
A Martini, M Mazzoli - International journal of pediatric otorhinolaryngology, 1999 - Elsevier
Three years ago an European Working Group for the study of genetics of hearing
impairment was founded with the aim to standardise terminology and protocols in order to …
impairment was founded with the aim to standardise terminology and protocols in order to …
Genetics of nonsyndromic congenital hearing loss
OK Egilmez, MT Kalcioglu - Scientifica, 2016 - Wiley Online Library
Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most
frequent birth defect in developed societies. Hereditary types of hearing loss account for …
frequent birth defect in developed societies. Hereditary types of hearing loss account for …
Clinical impact of genetic diagnosis of sensorineural hearing loss in adults
P Corriols-Noval, ECL Simón, J Cadiñanos… - Otology & …, 2022 - journals.lww.com
Background The diagnosis of genetic hearing loss is challenging, given its extreme genetic
and phenotypic heterogeneity, particularly in adulthood. This study evaluated the utility of …
and phenotypic heterogeneity, particularly in adulthood. This study evaluated the utility of …
Presymptomatic diagnosis of nonsyndromic hearing loss by genotyping
AH Chen, RF Mueller, SD Prasad… - … –Head & Neck …, 1998 - jamanetwork.com
Background Nonsyndromic hearing loss (NSHL) is the most common type of hereditary
hearing impairment (HHI). It is genetically heterogeneous, and although the exact number of …
hearing impairment (HHI). It is genetically heterogeneous, and although the exact number of …
Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis
I Schrijver, P Gardner - Expert review of molecular diagnostics, 2006 - Taylor & Francis
Hearing loss has a genetic etiology in the majority of cases and is very common. The
universal newborn hearing screening program, together with remarkable recent progress in …
universal newborn hearing screening program, together with remarkable recent progress in …
Clinical practice guidelines for hereditary non-syndromic deafness
H Yuan, P Dai, Y Liu, T Yang - Zhonghua yi xue yi Chuan xue za …, 2020 - europepmc.org
Genetic factors are a common cause for non-syndromic hearing loss (NSHL). Along with the
development and maturity of molecular techniques, genetic diagnosis and counseling is …
development and maturity of molecular techniques, genetic diagnosis and counseling is …
Hereditary hearing loss: genetic counselling
RC Farpón, JC Bañales - Acta Otorrinolaringologica (English Edition), 2012 - Elsevier
The aim of this review is to provide an updated overview of hereditary hearing loss, with
special attention to the etiological diagnosis of sensorineural hearing loss, the genes most …
special attention to the etiological diagnosis of sensorineural hearing loss, the genes most …