Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Mei-Chyn Chao"'
Autor:
San-Ging Shu, Pao-Chin Chiu, Fu-Sung Lo, Mei-Chyn Chao, Shuan-Pei Lin, Yann-Jinn Lee, Min-Tzu Kuo, Ju-Li Lin
Publikováno v:
European Journal of Pediatrics. 168:919-923
Noonan syndrome is a highly variable disorder that has significant phenotypic overlap with Costello syndrome and cardio-facio-cutaneous syndrome. KRAS mutation was the second reported gene for Noonan syndrome. This study screened for mutation of the
Autor:
Ho-Chang Kuo, Peng Yeong Woon, Cheng Yu Liao, Mei Chyn Chao, Yung Ching Fan, Siou Jin Chiu, Wei Chiao Chang, Wei Chiao Chen
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 413(11-12)
Background The most common congenital endocrine disorder, congenital hypothyroidism (CHT), is strongly associated with thyroid hormone deficiency. Previous studies have indicated that mutations of thyroid stimulation hormone receptor (TSHR) are a ris
Autor:
Chien-Nan Lee, Chia-Cheng Hung, Shuan-Pei Lin, Shin-Yu Lin, Chih-Ping Chen, Shyh-Shin Chiou, Yi-Ning Su, Mei-Chyn Chao
Publikováno v:
BMC Medical Genetics, Vol 12, Iss 1, p 76 (2011)
BMC Medical Genetics
BMC Medical Genetics
Background Retinoblastoma is caused by compound heterozygosity or homozygosity of retinoblastoma gene (RB1) mutations. In germline retinoblastoma, mutations in the RB1 gene predispose individuals to increased cancer risks during development. These mu
Autor:
Chien-Hao Huang, Tsang-Ming Ko, Mei-Chyn Chao, Chung-Hsiung Chen, Yen-Shi Kao, Yuh-Jyh Jong, Hsiao-Lin Hwa, Yih-Yuan Chang
Publikováno v:
Journal of the Formosan Medical Association, Vol 107, Iss 6, Pp 463-469 (2008)
Background/Purpose 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. Met
Autor:
Yann-Jinn Lee, Hsiang Tai Chao, Hsien Hsiung Lee, Fu Sung Lo, Shio Jean Lin, Dau Ming Niu, Fuu Jen Tsai, Mei Chyn Chao, Yu Mei Wang
Publikováno v:
Molecular genetics and metabolism. 93(4)
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder which causes more than 90% of CAH cases due to defects in the steroid 21-hydroxylase gene (CYP21A2). The frequency of large mutations was determined in 200 ethnic Chinese (