Results 81 to 90 of about 3,605,025 (319)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source
Etiology of Childhood Bilateral Sensorineural Hearing Loss in Shandong Province, China. [PDF]
, 2020 Objectives The purpose of this study is to ascertain the etiology of bilateral sensorineural hearing loss (SNHL) in children aged ≤ 18 years living in Shandong province.
Kuper, Hannah +7 more
core +1 more source
Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer +4 more
wiley +1 more source
The Pathogenesis of Cytomegalovirus and Other Viruses Associated with Hearing Loss: Recent Updates
Viruses, 2023 Virus infection is one of the most common etiologies of hearing loss. Hearing loss associated with viral infection can be unilateral or bilateral, mild or severe, sudden or progressive, and permanent or recoverable.
Xinyu Shi, Xiao-Zhou Liu, Yu Sun
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa +4 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source
Hearing loss: an unusual presentation of neurobrucellosis: a case report
Journal of Medical Case Reports, 2023 Introduction Brucellosis is a zoonotic disease, caused by a Gram-negative coccobacillus of Brucella genus, transmitted to humans by animals, especially cattle.
Prem Kumar Sah +4 more
doaj +1 more source
The Anatomical Record, EarlyView.Abstract Nineteenth century excavations of the Ciply‐Malogne Phosphatic Chalk Formation in Hainaut, Belgium, yielded over 50 partial mosasaur skeletons, the majority of which were referred to the species Mosasaurus lemonnieri Dollo, 1889. In the years since, this taxon has experienced a complicated taxonomic history, and its exceptional hypodigm has ...
Henry S. Sharpe +3 more
wiley +1 more source
Cochlear Hearing Loss Detection System Based on Transient Evoked Otoacoustic Emissions [PDF]
, 2004 The aim of this paper is to evaluate the application of the discrete wavelet transform (DWT) and support vector machines (SVM) to transient evoked otoacoustic emissions (TEOAE) in order to achieve a detection of frequency-specific hearing loss (HL).We ...
Weiss, Stephan +3 more
core +2 more sources
Journal of Neural Transplantation and Plasticity, 2019 Abnormal neural activity in the cerebellum has been implicated in hearing impairments, but the effects of long-term hearing loss on cerebellar function are poorly understood.
Xiao-Min Xu +7 more
semanticscholar +1 more source