Zobrazeno 1 - 10
of 106
pro vyhledávání: '"Shuan-Yow Li"'
Publikováno v:
Journal of the Formosan Medical Association, Vol 116, Iss 9, Pp 711-719 (2017)
Pediatric epilepsy caused by a KCNQ2 gene mutation usually manifests as benign familial neonatal seizures (BFNS) during the 1st week of life. However, the exact mechanism, phenotype, and genotype of the KCNQ2 mutation are unclear. Methods: We studied
Externí odkaz:
https://doaj.org/article/90603507e8334bfebd26fde09d329458
Publikováno v:
Pediatrics and Neonatology, Vol 58, Iss 4, Pp 338-343 (2017)
We wanted to identify in children with epilepsy the factors associated with seizure control and recurrence after a 2-year remission. Methods: We did a 5-year follow-up of epileptic children whose antiepileptic medication had been stopped. Bivariate a
Externí odkaz:
https://doaj.org/article/1770064209314157abe0c5fa9efc83a4
Publikováno v:
Journal of Functional Foods, Vol 28, Iss , Pp 157-167 (2017)
Ferulic acid (FA) derivatives have applied in American clinical trials for preventing and treating auditory dysfunctions. However, the effects of FA on neomycin-mediated sensorineural hearing loss are still unknown. We developed a transgenic zebrafis
Externí odkaz:
https://doaj.org/article/e8f65ab3634f452aa0d9330a29790450
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background Epilepsy caused by a KCNQ2 gene mutation usually manifests as neonatal seizures during the first week of life. The genotypes and phenotypes of KCNQ2 mutations are noteworthy. Methods The KCNQ2 sequencings done were selected from 1
Externí odkaz:
https://doaj.org/article/e8ee9c4203e74f629e4ff3e6ecf40bd3
Publikováno v:
Pediatrics and Neonatology, Vol 56, Iss 6, Pp 408-414 (2015)
Lenticulostriate vasculopathy is associated with various disorders, in particular cytomegalovirus infection, which can cause neurological consequences. We wanted to evaluate the association of lenticulostriate vasculopathy and cytomegalovirus infecti
Externí odkaz:
https://doaj.org/article/c5093fb9222e4fc4a06c368d6e77fde0
Publikováno v:
Cells, Vol 9, Iss 5, p 1291 (2020)
Nonsyndromic hearing loss (NSHL) is of great clinical importance, and mutations in the GJB2 gene and the encoded human CONNEXIN 26 (CX26) protein play important roles in the genetic pathogenesis. The CX26 p.R184Q mutation was shown to be a dominant-n
Externí odkaz:
https://doaj.org/article/4290ff575bba4636992c4cdf207ef320
Autor:
Trang-Tiau Wu, Tsui-Wei Tsai, Han Chang, Ching-Chyuan Su, Shuan-Yow Li, Hong-Shiee Lai, Chuan Li
Publikováno v:
Journal of the Formosan Medical Association, Vol 109, Iss 1, Pp 32-38 (2010)
Mutations in the receptor tyrosine kinase RET gene are associated with Hirschsprung disease (HD), which is also known as congenital intestinal aganglionosis. We found an association with specific alleles in five single nucleotide polymorphism (SNP) s
Externí odkaz:
https://doaj.org/article/5cbe9e05bdb04f2fb140dc03fd89c7dc
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e21473 (2011)
Dysfunctional gap junctions caused by GJB2 (CX26) and GJB6 (CX30) mutations are implicated in nearly half of nonsyndromic hearing loss cases. A recent study identified a heterozygous mutation, c.119C>T (p.A40V), in the GJB6 gene of patients with nons
Externí odkaz:
https://doaj.org/article/80a96dbbef32434681e8251215dab0a5
Autor:
Chia-Fang Hsu, Shuan-Yow Li, Jiann-Jou Yang, Zeng-Chin Liang, Fu-An Yang, Hao-Wei Song, Shih-Chuan Liu
Publikováno v:
Current Topics in Nutraceutical Research. 18:366-372
Aminoglycoside treatment increases the loss of hair cells in the inner ear. Once the hair cells are lost, they are unable to regenerate spontaneously, and the resulting hearing loss is profound and irreversible in humans. The aqueous extract from the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cfdd9326036e1578a8d91a135f7b694
https://doi.org/10.37290/ctnr2641-452x.18:366-372
https://doi.org/10.37290/ctnr2641-452x.18:366-372
Publikováno v:
Journal of Personalized Medicine
Journal of Personalized Medicine, Vol 10, Iss 281, p 281 (2020)
Volume 10
Issue 4
Journal of Personalized Medicine, Vol 10, Iss 281, p 281 (2020)
Volume 10
Issue 4
Background: Pediatric epileptic encephalopathy and severe neurological disorders comprise a group of heterogenous diseases. We used whole-exome sequencing (WES) to identify genetic defects in pediatric patients. Methods: Patients with refractory seiz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::453ad2f38fa5bb1c5a5c247d4e466d80
http://europepmc.org/articles/PMC7765181
http://europepmc.org/articles/PMC7765181