Results 121 to 130 of about 179,655 (257)
The Diverse Genetic Landscape of Hearing Impairment in South African Families
Clinical Genetics, EarlyView.South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj +10 more
wiley +1 more source
Efficacy in noise of the Starkey Surflink Mobile 2 technology in directional versus omnidirectional microphone mode with experienced adult hearing aid users [PDF]
, 2016 The Starkey SurfLink Mobile 2 is a remote microphone accessory. Starkey claims that by placing the SurfLink’s internal microphone in the directional microphone setting, the participant will hear better in noise over the omnidirectional setting.
Beal, Taylor Rae
core +1 more source
Clinical Genetics, EarlyView.We report a 2‐year‐old male with clinical features of Takenouchi‐Kosaki syndrome, bilateral colobomas, and a de novo, likely pathogenic missense variant in CDC42. Supportive evidence includes a Cdc42 conditional knock‐out mouse model with colobomas.
Diana Brightman +11 more
wiley +1 more source
Clinical Genetics, EarlyView.We report an individual with mucopolysaccharidosis type IIIB and chronic pancytopenia. Hematological studies in a mouse model revealed microcytic anemia and decreased monocyte count. Hence, pancytopenia is thought to be secondary to mucopolysaccharidosis type IIIB, and we suggest that a complete blood count should be included in the clinical ...
Éliane Beauregard‐Lacroix +3 more
wiley +1 more source
Acute Profound Sensorineural Hearing Loss After COVID-19 Pneumonia
Mayo Clinic proceedings, 2020 C. Degen, T. Lenarz, K. Willenborg
semanticscholar +1 more source
Clinical Genetics, EarlyView.Our mouse model with a c.259G>A transition in PRPS1 showed a significant decrease in the number of hair cells and SGN counts at 48 weeks of age and a reduction in Prps1 enzymatic activity in the KI mouse. This model will serve as a valuable tool for developing therapeutic strategies.
Denise Yan +6 more
wiley +1 more source
Hearing loss in Adult Women with Turner Syndrome [PDF]
, 2013 L'objectiu d'aquest estudi és definir els patrons d'hipoacúsia en dones amb Síndrome de Turner i els possibles factors que poden afavorir el desenvolupament d'hipoacúsia neurosensorial en dones adultes amb Síndrome de Turner.
Andreu Castelo-Branco, Camil +5 more
core
Clinical Genetics, EarlyView.Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam +9 more
wiley +1 more source
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity
Clinical Genetics, EarlyView.A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis +14 more
wiley +1 more source
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort
Clinical Genetics, EarlyView.This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca +13 more
wiley +1 more source