Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care
AE Shearer, RJH Smith - Otolaryngology–Head and Neck …, 2015 - journals.sagepub.com
Objective To evaluate the use of new genetic sequencing techniques for comprehensive
genetic testing for hearing loss. Data Sources Articles were identified from PubMed and …
genetic testing for hearing loss. Data Sources Articles were identified from PubMed and …
Variations in multiple syndromic deafness genes mimic non-syndromic hearing loss
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is
characterized by a high degree of genetic heterogeneity. We analyzed whole exome …
characterized by a high degree of genetic heterogeneity. We analyzed whole exome …
Diagnóstico etiológico de la sordera infantil: recomendaciones de la CODEPEH
F Núñez-Batalla, C Jáudenes-Casaubón… - Acta …, 2017 - Elsevier
Important progress in the fields of molecular genetics (principally) and diagnostic imaging,
together with the lack of a consensus protocol for guiding the diagnostic process after …
together with the lack of a consensus protocol for guiding the diagnostic process after …
[HTML][HTML] Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients
P Canzi, A Pecci, M Manfrin, E Rebecchi… - Acta …, 2016 - ncbi.nlm.nih.gov
SUMMARY MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder
characterised by congenital thrombocytopenia and is associated with the risk of developing …
characterised by congenital thrombocytopenia and is associated with the risk of developing …
Aetiological diagnosis of child deafness: CODEPEH recommendations
F Núñez-Batalla, C Jáudenes-Casaubón… - Acta …, 2017 - Elsevier
Important progress in the fields of molecular genetics (principally) and diagnostic imaging,
together with the lack of a consensus protocol for guiding the diagnostic process after …
together with the lack of a consensus protocol for guiding the diagnostic process after …
Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit
M Costales, M Diñeiro, GÁ Cifuentes, R Capín… - Acta …, 2020 - Elsevier
Introduction Sensorineural hearing loss (SNL) is the most prevalent sensory deficit in our
environment. The next generation genomic sequencing (NGS) allows to obtain an …
environment. The next generation genomic sequencing (NGS) allows to obtain an …
Investigation of KCNQ1 polymorphisms as biomarkers for cardiovascular diseases in the Turkish Cypriots for establishing preventative medical measures
Potassium channels are important in transmitting electrical signals through potassium ions
transport. These potassium channels are made from signals encoded by KCNQ1 gene …
transport. These potassium channels are made from signals encoded by KCNQ1 gene …
Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome
C Wang, Y Lu, J Cheng, L Zhang, W Liu… - Acta Oto …, 2017 - Taylor & Francis
Conclusion: Besides expanding the spectrum of KCNQ1 mutations causing Jervell and
Lange-Nielsen Syndrome (JLNS), the results showed diversity of its phenotypes, and …
Lange-Nielsen Syndrome (JLNS), the results showed diversity of its phenotypes, and …
Utilidad clínica de la secuenciación de nueva generación en el diagnóstico etiológico de la hipoacusia neurosensorial en una Unidad de Hipoacusia Infantil
M Costales, M Diñeiro, GA Cifuentes, R Capín… - Acta …, 2020 - Elsevier
Introducción La hipoacusia neurosensorial (HNS) es el déficit sensorial más prevalente en
nuestro medio. La secuenciación genómica de nueva generación (NGS) permite obtener un …
nuestro medio. La secuenciación genómica de nueva generación (NGS) permite obtener un …
Genetic Evaluation in People with Sensorineural Hearing Loss
Hearing loss is the most common sensory disorder affecting~ 1 in 500 newborns. Over half
of cases with congenital or prelingual-onset sensorineural hearing loss have underlying …
of cases with congenital or prelingual-onset sensorineural hearing loss have underlying …