Results 61 to 70 of about 9,773 (106)

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non-Syndromic Hearing Loss

Hale EB, Vona B, Goodyear RJ, Osgood RT, Shen J, Amr SS, Mojica K, Hofrichter MAH, Schröder J, Flandin S, Gratias P, Vera-Monroy R, Callahan K, Gudlewski KL, Quadros R, Ohtsuka M, McGee J, Walsh EJ, Morton CC, Haaf T, Gurumurthy C, Saunders JE, Richardson GP, Indzhykulian AA.   +23 more
europepmc   +1 more source

Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia. [PDF]

BMC Med Genomics
Nouri Z, Sarmadi A, Narrei S, Kianersi H, Kianersi F, Tabatabaiefar MA.   +5 more
europepmc   +1 more source

Extracellular vesicle-mediated gene editing for the treatment of nonsyndromic progressive hearing loss in adult mice. [PDF]

Sci Transl Med
Pan X, Huang P, Ali SS, Renslo B, Greenberg Z, Erwin N, Li Y, Ding Z, Hutchinson TE, Warnecke A, Fernandez NE, Staecker H, He M.   +12 more
europepmc   +1 more source

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Non-Syndromic Sensorineural Hearing Loss in Children

Neuroimaging Clinics of North America, 2023
Pediatric hearing loss is common with significant consequences in terms of language, communication, social and emotional development, and academic advancement. Radiological imaging provides useful information regarding hearing loss etiology, prognosis, therapeutic options, and potential surgical pitfalls.
Caroline Robson, Felice D'Arco
exaly   +3 more sources

An Immunological Perspective to Non-syndromic Sensorineural Hearing Loss [PDF]

Frontiers in Immunology, 2019
Conventionally the etiology of congenital Non-Syndromic Hearing Loss has been attributed to mutations in the genes involved in ion homeostasis or the structural compartments of the inner ear. However, this contributes to only a part of the problem, as still the determinants for a large majority of the Non-Syndromic Hearing loss seems to be an enigma ...
Moinak Banerjee
exaly   +4 more sources

Genetic testing hearing loss: The challenge of non syndromic mimics

International Journal of Pediatric Otorhinolaryngology, 2021
Congenital hearing loss is a common cause of morbidity in early childhood. There are multiple reasons for congenital hearing impairment, with genetic contribution becoming increasingly recognized. Sensorineural hearing loss has classically been viewed as either syndromic or non-syndromic.
Nathaniel Robin, Catherine Gooch, Richard Smith   +2 more
exaly   +3 more sources

Non-syndromic hearing loss: clinical and diagnostic challenges

Medizinische Genetik, 2020
Abstract 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 are associated with syndromic forms. Despite an increasing number of genes that have been implemented into routine molecular genetic diagnostic ...
Thomas Haaf, Barbara Vona, Michaela A H Hofrichter   +2 more
exaly   +2 more sources

Mitochondrial mutations in non-syndromic hearing loss at UAE

International Journal of Pediatric Otorhinolaryngology, 2020
Hearing loss (HL) is a common sensory disorder over the world, and it has been estimated that genetic etiology is involved in more than 50% of the cases in developed countries. Both nuclear and mitochondrial genes were reported as responsible for hereditary HL.
Walaa Kamal Eldin Mohamed, Marc Arnoux, Thyago H.S. Cardoso, Abdullah Almutery, Abdelaziz Tlili   +4 more
openaire   +2 more sources

Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss

Audiology and Neurotology, 2023
Background: Low-frequency non-syndromic hearing loss (LFNSHL) is a rare form of hearing loss (HL). It is defined as HL at low frequencies (≤2,000 Hz) resulting in a characteristic ascending audiogram. LFNSHL is usually diagnosed postlingually and is progressive, leading to HL affecting other frequencies as well.
Nina Sara Gan, Dominika Oziębło, Henryk Skarżyński, Monika Ołdak   +3 more
openaire   +2 more sources

Molecular testing for the study of non-syndromic hearing loss

Hearing, Balance and Communication, 2020
Objective Hearing loss (HL) is the most common sensory disorder, with more than 460 millions of people affected worldwide. Among the genetic cases of HL, Non-Syndromic Hearing Loss (NSHL) accounts for the majority of them, and its diagnosis still represents a challenge for both clinicians and geneticists. In the present work we
Anna Morgan, Paolo Gasparini, Giorgia Girotto   +2 more
exaly   +3 more sources