Zobrazeno 11 - 20
of 126
pro vyhledávání: '"Mei-Chyn Chao"'
Publikováno v:
Kaohsiung Journal of Medical Sciences, Vol 25, Iss 11, Pp 588-595 (2009)
Recent longitudinal experiences have emphasized that the follow-up of children with treated congenital hypothyroidism (CHT) should not be limited to the cognitive domain. This study attempted to evaluate the emotional–behavioral profiles in childre
Externí odkaz:
https://doaj.org/article/439fda8bd843413d847ca95d9e181566
Publikováno v:
Kaohsiung Journal of Medical Sciences, Vol 25, Iss 4, Pp 212-216 (2009)
A 15-year-old girl was admitted because of an acute onset of facial palsy and right hemiparesis. The patient had a history of moderate mental retardation and developmental delay. On admission, her vital signs were stable, except for high blood pressu
Externí odkaz:
https://doaj.org/article/014ef87c01844988a3fb2469478a4b96
Autor:
Hsiao-Lin Hwa, Yih-Yuan Chang, Chien-Hao Huang, Chung-Hsiung Chen, Yen-Shi Kao, Yuh-Jyh Jong, Mei-Chyn Chao, Tsang-Ming Ko
Publikováno v:
Journal of the Formosan Medical Association, Vol 107, Iss 6, Pp 463-469 (2008)
Duchenne/Becker muscular dystrophies are X-linked recessive disorders caused by mutations in the Duchenne muscular dystrophy (DMD) gene. We aimed to demonstrate the small mutation patterns of the DMD gene in Taiwanese subjects. Methods: We sequenced
Externí odkaz:
https://doaj.org/article/4de27393a122444482a9358022cb47b6
Autor:
Hsiao-Lin Hwa, Yih-Yuan Chang, Chung-Hsiung Chen, Yen-Shi Kao, Yuh-Jyh Jong, Mei-Chyn Chao, Tsang-Ming Ko
Publikováno v:
Journal of the Formosan Medical Association, Vol 106, Iss 5, Pp 339-346 (2007)
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X- linked recessive disorders caused by mutations in the DMD gene. We intended to determine the distribution of DMD gene deletions and duplications in local Taiwanese male pati
Externí odkaz:
https://doaj.org/article/95f31595fd49440c9089aafee0344fb8
Publikováno v:
Journal of the Formosan Medical Association, Vol 106, Iss 2, Pp 169-172 (2007)
Noonan syndrome (NS) is an autosomal dominant disorder presenting with characteristic facies, short stature, skeletal anomalies, and congenital heart defects. Mutations in protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11), encoding SHP-2, ac
Externí odkaz:
https://doaj.org/article/39102f58873140d8bbc8ec6eef9b84fa
Autor:
Lee-Moay Lim, Xuan Zhao, Mei-Chyn Chao, Jer-Ming Chang, Wei-Chiao Chang, Hung-Ying Kao, Daw-Yang Hwang, Hung-Chun Chen
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0138152 (2015)
Hereditary 1, 25-dihydroxyvitamin D-resistant rickets (HVDRR), a rare recessive disease, is caused by mutation in the VDR gene encoding the vitamin D receptor leading to the resistance to vitamin D. We described a female toddler with initial presenta
Externí odkaz:
https://doaj.org/article/a058f338a3a84238830467bb575644a6
Publikováno v:
Journal of the Formosan Medical Association, Vol 105, Iss 12, Pp 1013-1016 (2006)
Campomelic dysplasia (CD; OMIM #114290) is an autosomal dominant, frequently lethal dysplasia syndrome whose primary features include angular bowing and shortening of the limbs, and sex reversal in the majority of affected XY individuals. Most CD cas
Externí odkaz:
https://doaj.org/article/5469a972a9a94305be59a60952f73a29
Autor:
Yi-Lei Wu, Daw-Yang Hwang, Hui-Pin Hsiao, Wei-Hsin Ting, Chi-Yu Huang, Wen-Yu Tsai, Hung-Chun Chen, Mei-Chyn Chao, Fu-Sung Lo, Jeng-Daw Tsai, Stone Yang, Shin-Lin Shih, Shuan-Pei Lin, Chiung-Ling Lin, Yann-Jinn Lee
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e90640 (2014)
An inactivating mutation in the GNAS gene causes either pseudohypoparathyroidism 1a (PHP1A) when it is maternally inherited or pseudopseudohypoparathyroidism (PPHP) when it is paternally inherited. We investigated clinical manifestations and mutation
Externí odkaz:
https://doaj.org/article/6c81de158484432583f7e93354c9eec0
Autor:
Ming-Tsang Wu, Chia-Fang Wu, Bai-Hsiun Chen, Eric K Chen, Yi-Ling Chen, Jentaie Shiea, Wei-Te Lee, Mei-Chyn Chao, Jiunn-Ren Wu
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e55005 (2013)
BACKGROUND: On April-May, 2011, two Taiwan chemical companies were found to have intentionally added phthalates, Di-(2-ethylhexyl) phthalate (DEHP) and/or Di-isononyl phthalate, as a substitute of emulsifier to many foodstuffs. This study aimed to in
Externí odkaz:
https://doaj.org/article/167606e8e37348da92fc3ea3f4a49f7b
Autor:
Ho-Chang Kuo, Mei-Chyn Chao, Yu-Wen Hsu, Ying-Chi Lin, Ying-Hsien Huang, Hong-Ren Yu, Ming-Feng Hou, Chi-Di Liang, Kuender D. Yang, Wei-Chiao Chang, Chih-Lu Wang
Publikováno v:
The Scientific World Journal, Vol 2012 (2012)
Background. Kawasaki disease (KD) is characterized by systemic vasculitis of unknown etiology. Our previous studies showed expression of CD40 ligand on CD4+ T cells correlated to the coronary artery lesion (CAL) and disease progress in KD. Other stud
Externí odkaz:
https://doaj.org/article/f77422780a5744d78b104e8873d27940