Results 11 to 20 of about 161,807 (290)

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2015
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15.
Yong Suk Shim, Woohyeok Choi, Il Tae Hwang, Seung Yang   +3 more
doaj   +2 more sources

Risks of tinnitus, sensorineural hearing impairment, and sudden deafness in patients with non-migraine headache.

PLoS ONE, 2019
Tinnitus and hearing impairment are prevalent among headache patients. This study aims to investigate the risk of tinnitus, sensorineural hearing impairment, and sudden deafness in patients with non-migraine headache.
Yi-Chun Chen, Shiang-Jiun Tsai, Jin-Cherng Chen, Juen-Haur Hwang   +3 more
doaj   +2 more sources

Transient evoked otoacoustic emissions testing for screening of sensorineural deafness in puppies [PDF]

Journal of Veterinary Internal Medicine, 2011
<p><b>Background:</b> Transient evoked otoacoustic emissions (TEOAE) are widely used for human neonatal deafness screening, but have not been reported for clinical use in dogs.</p> <p><b>Hypothesis/Objectives:< ...
Ahlstrom, Branis, De Capua, Doyle, Famula, Hall, Igarashi, Kemp, Korres, Lonsbury-Martin, Lonsbury-Martin, Lurie, Maxon, Platt, Rhodes, Schemera, Sims, Sockalingam, Strain, Strain, Strain, Strain, Ter Haar, Wilkes, Wilson, Wood   +25 more
core   +2 more sources

Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10.

PLoS ONE, 2010
BackgroundCongenital sensorineural deafness is an inherited condition found in many dog breeds, including Australian Stumpy-tail Cattle Dogs (ASCD). This deafness is evident in young pups and may affect one ear (unilateral) or both ears (bilateral).
Susan Sommerlad, Allan F McRae, Brenda McDonald, Isobel Johnstone, Leigh Cuttell, Jennifer M Seddon, Caroline A O'Leary   +6 more
doaj   +2 more sources

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness

Neural Plasticity, 2016
Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness ...
Penghui Chen, Longxia He, Xiuhong Pang, Xiaowen Wang, Tao Yang, Hao Wu   +5 more
doaj   +2 more sources

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness. [PDF]

Ann Clin Transl Neurol, 2021
CoenzymeQ10 is one of the main cellular antioxidants and an essential lipid involved in numerous cell reactions, such as energy production and apoptosis modulation. A large number of enzymes are involved in CoQ10 biosynthesis.
Nardecchia F, De Giorgi A, Palombo F, Fiorini C, De Negri AM, Carelli V, Caporali L, Leuzzi V.   +7 more
europepmc   +2 more sources

COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy. [PDF]

JIMD Rep, 2020
Primary coenzyme Q10 (CoQ10) deficiencies are a group of mitochondrial disorders that has proven responsiveness to replacement therapy. Mutations in enzymes involved in the biosynthesis of CoQ10 genes are associated with these deficits.
Justine Perrin R, Rousset-Rouvière C, Garaix F, Cano A, Conrath J, Boyer O, Tsimaratos M.   +6 more
europepmc   +2 more sources

An Interesting Case of Wolf-Parkinson-White Syndrome in a Young Patient With Sensorineural Deafness. [PDF]

Cureus
Khan Z, Khan A.
europepmc   +3 more sources

Sensorineural deafness and aging.

AUDIOLOGY JAPAN, 1995
Takashi Tsuiki
openaire   +3 more sources

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.

J Am Soc Nephrol, 2021
Visual Abstract Significance Statement A novel disease phenotype comprises a tubulopathy with severe hypokalemia, renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness associated with variants in KCNJ16 (Kir5.1).
Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, de Baaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, Konrad M.   +30 more
europepmc   +2 more sources