Results 21 to 30 of about 161,807 (290)

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature. [PDF]

open access: yesBMC Endocr Disord, 2019
BackgroundBarakat syndrome is an autosomal dominant rare genetic disease caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene.
Joseph ADD   +7 more
europepmc   +2 more sources

Dystonia deafness syndrome: A rare deep brain stimulation responsive dystonia

open access: yesAnnals of Indian Academy of Neurology, 2023
Dystonia deafness syndrome (DDS) is a rare syndrome characterized by childhood onset sensorineural deafness followed by adult-onset dystonia. We here report the first case of DDS from India caused by ACTB gene mutation presented with deafness ...
Sruthi Kola   +6 more
doaj   +1 more source

Adjuvant Migraine Medications in the Treatment of Sudden Sensorineural Hearing Loss. [PDF]

open access: yes, 2021
Objectives/hypothesisTo examine the hearing outcomes of patients with sudden sensorineural hearing loss (SSNHL) treated with oral and intratympanic (IT) steroid only or a combination of steroid and migraine treatment.
Abouzari, Mehdi   +7 more
core   +1 more source

Deafness: from genetic architecture to gene therapy

open access: yesNature reviews genetics, 2023
Progress in deciphering the genetic architecture of human sensorineural hearing impairment (SNHI) or loss, and multidisciplinary studies of mouse models, have led to the elucidation of the molecular mechanisms underlying auditory system function ...
C. Petit, C. Bonnet, S. Safieddine
semanticscholar   +1 more source

Deafness gene screening based on a multilevel cascaded BPNN model

open access: yesBMC Bioinformatics, 2023
Sudden sensorineural hearing loss is a common and frequently occurring condition in otolaryngology. Existing studies have shown that sudden sensorineural hearing loss is closely associated with mutations in genes for inherited deafness. To identify these
Xiao Liu   +5 more
doaj   +1 more source

Living‐donor kidney transplantation for a patient with hypoparathyroidism, deafness, and renal dysplasia syndrome

open access: yesIJU Case Reports, 2020
Introduction Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome is an autosomal dominant rare genetic disease. Some patients with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome may present with renal ...
Nobutaka Nishimura   +9 more
doaj   +1 more source

Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report. [PDF]

open access: goldOnco Targets Ther, 2018
Kojima M   +10 more
europepmc   +3 more sources

Barakat syndrome diagnosed decades after initial presentation

open access: yesEndocrinology, Diabetes & Metabolism Case Reports, 2023
Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).
Umberto Spennato   +9 more
doaj   +1 more source

Bone conductive implants in single sided deafness [PDF]

open access: yes, 2015
Conclusion: The Bone Conductive Implants (BCI) showed to partly restore some of the functions lost when the binaural hearing is missing, such as in the single-sided deafness (SSD) subjects.
ATTURO, FRANCESCA   +4 more
core   +1 more source

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