Results 51 to 60 of about 93,748 (336)
Hearing Loss: From Basic to Clinical Science
Advanced Science, EarlyView.Abstract Hearing loss (HL) affects over 1.5 billion people globally, with genetic factors accounting for ≈50% of congenital cases. Therefore, HL has become a global health issue, driving extensive research from basic science to clinical applications. This Special Collection includes a total of 31 papers, among which 9 are review papers, 21 are research
Renjie Chai, Hai Huang, Jing Zou
wiley +1 more source
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source
Tuberculous Meningitis Presented with Bilateral Sensorineural Hearing Loss: Acute Deafness
Türk Nöroloji Dergisi, 2011 Tuberculous meningitis is the most severe manifestation of extrapulmonary tuberculosis with a high mortality and morbidity rates. It is usually presented with headache, fever, consciousness disturbances and convulsions. Eigth cranial nerve involvement is
Kürşad Çetin Akpınar +2 more
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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 +3 more
core +1 more source
A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen +3 more
wiley +1 more source
Database for sensorineural hearing loss
International Journal of Pediatric Otorhinolaryngology, 1996 We are creating a bank of EBV immortalized lymphoblast cells and extracted DNA taken from the blood of deaf children and their relatives, in order to study the molecular basis of hereditary deafness. We have established a corresponding database for sensorineural hearing loss that records clinical data for each entered specimen.
A J, Fishman, N, Sculerati
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
Brazilian Journal of Otorhinolaryngology, 2010 Estudo retrospectivo com o objetivo de avaliar a interferência das doenças associadas na evolução e prognóstico da perda auditiva neurossensorial súbita idiopática. MATERIAL E MÉTODO: Estudo caso controle.
Jayson Nagaoka +5 more
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Frontiers in Cellular Neuroscience, 2020 We live in a world continuously immersed in noise, an environmental, recreational, and occupational factor present in almost every daily human activity. Exposure to high-level noise could affect the auditory function of individuals at any age, resulting ...
Juan Carlos Alvarado +3 more
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