Results 41 to 50 of about 161,807 (290)

American Cochlear Implant Alliance Task Force Guidelines for Clinical Assessment and Management of Adult Cochlear Implantation for Single-Sided Deafness

Ear and Hearing, 2022
The indications for cochlear implantation have expanded to include individuals with profound sensorineural hearing loss in the impaired ear and normal hearing (NH) in the contralateral ear, known as single-sided deafness (SSD).
Margaret T. Dillon, Armine Kocharyan, Ghazal S. Daher, M. Carlson, W. Shapiro, Hillary A. Snapp, J. Firszt   +6 more
semanticscholar   +1 more source

A rare cause for primary amenorrhea: Sporadic perrault syndrome

Indian Journal of Endocrinology and Metabolism, 2012
Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault ...
K H Noorul Ameen, Rakesh Pinninti
doaj   +1 more source

Sensorineural hearing loss due to a novel mutation in the PCDH15 gene: A case study

Brain Disorders, 2023
Sensory deafness is a disorder with a broad spectrum of phenotypes. It is associated with genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnosis.
Raidah Albaradie, Mohammad Uzair, Shahid Bashir   +2 more
doaj   +1 more source

A rare cause for primary amenorrhoea

Journal of Human Reproductive Sciences, 2012
Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault′s
Kaderthambi Hajamohideen Noorul Ameen, Rakesh Pinninti   +1 more
doaj   +1 more source

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. [PDF]

, 2015
Hearing impairment is the second most prevalent clinical feature after optic atrophy in Dominant Optic Atrophy associated with mutations in the OPA1 gene.
Arslan, E, Biscaro, A, Cama, Elona, Caporali, L, Carelli, V., La Morgia, C, Liguori, R, Magnavita, V, Monteleone, A, Rossi, R, Santarelli, Rosamaria, Scimemi, Pietro, Valentino, Ml   +12 more
core   +3 more sources

Tissue-specific calibration of extracellular matrix material properties by transforming growth factor-beta and Runx2 in bone is required for hearing [PDF]

, 2010
Publisher version: http://www.nature.com/embor/journal/v11/n10/full/embor2010135.htmlDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA - ENG PT - JOURNAL ARTICLEDA - 20100917 IS - 1469-3178 (Electronic) IS - 1469-221X (Linking) LA ...
Alexandra E Porter, Anil Lalwani, Carol G Chen, Currey JD, Delia S Brauer, Emily N Chin, Filvaroff E, Grayson W Marshall, Guive Balooch, Higashi K, Jacob Johnson, Jolie L Chang, Kristin Butcher, Lawrence Lustig, Mary Beth Humphrey, Omar Akil, Richard A Schneider, Rik Derynck, Robert O Ritchie, Sally J Marshall, Sorensen MS, Tamara Alliston   +21 more
core   +1 more source

Prediction of hearing recovery in sudden deafness treated with intratympanic steroids [PDF]

, 2018
The present study aims to obtain a probability model allowing the prediction of the auditory recovery in patients affected by sudden sensorineural hearing loss treated exclusively with intratympanic steroids.
Attanasio, G., Cagnoni, L., De Vincentiis, M., Di Porto, E., Greco, A., Masci, E., Ralli, M., RUSSO, FRANCESCA YOSHIE   +7 more
core   +1 more source

A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

Genetics and Molecular Biology, 2006
Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness
Raquel Rabionet, Estela Morales-Peralta, Núria López-Bigas, Maria Lourdes Arbonés, Xavier Estivill   +4 more
doaj   +1 more source

Brainstem auditory evoked responses in an equine patient population. Part II: foals. [PDF]

, 2014
BackgroundReports of the use of brainstem auditory evoked response (BAER) as a diagnostic modality in foals have been limited.Hypothesis/objectivesTo describe BAER findings and associated causes of hearing loss in foals.AnimalsStudy group 18 foals (15 ...
Aleman, M, Holliday, TA, Madigan, JE, Williams, DC   +3 more
core   +1 more source

Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome

Developmental Medicine & Child Neurology, 2013
Recently, we reported a previously unrecognized symptom constellation comprising epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) associated with recessive mutations in the KCNJ10 gene.
J. H. Cross, R. Arora, R. Heckemann, R. Gunny, K. Chong, L. Carr, T. Baldeweg, A. Differ, N. Lench, S. Varadkar, T. Sirimanna, E. Wassmer, Sally A Hulton, M. Ognjanovic, V. Ramesh, S. Feather, R. Kleta, A. Hammers, D. Bockenhauer   +18 more
semanticscholar   +1 more source