Results 121 to 130 of about 47,561 (284)
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
Bilateral sensorineural hearing loss associated with mycoplasma pneumoniae infection [PDF]
, 1987 Keiko Nishioka +5 more
openalex +1 more source
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
Perception of stop consonant formant transitions by normal and high-frequency sensorineurally hearing-impaired listeners: Identification and psychoacoustic evidence [PDF]
, 1983 T. Ochs, Larry E. Humes, Ralph N. Ohde
openalex +1 more source
Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome
Clinical Genetics, EarlyView.Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato +15 more
wiley +1 more source
Relations between frequency selectivity, temporal resolution, and speech intelligibility in sensorineural hearing-impaired subjects [PDF]
, 1988 Kiyoshi Yonemoto +3 more
openalex +1 more source
The Usefulness of ETDQ‐7 Score in Assessing ETD
Clinical Otolaryngology, EarlyView.ABSTRACT Introduction The ETDQ‐7 questionnaire has been validated for diagnosing Eustachian tube dysfunction (ETD) and a minimal clinically important difference (MCID) of > 3.5 has been suggested. We aim to assess the use of ETDQ‐7 for assessing ETD and a potential correlation between ETDQ‐7 and the Sino‐Nasal Outcome Test 22 (SNOT‐22). Methods ETD was
Niels Højvang Holm, Therese Ovesen
wiley +1 more source