Zobrazeno 1 - 6
of 6
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:
Tracy L. McGregor, Elena V. Semina, Rebecca C. Tyler, Eric Weh, Stephanie Wallace, Jeffrey C. Murray, William J. Rhead, David P. Bick, Linda M. Reis, Mei-Chyn Chao, Shelley K. Dills
Peters plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities. In this report, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f60681367aeb5b0032b462ab67cc83
https://europepmc.org/articles/PMC4103962/
https://europepmc.org/articles/PMC4103962/
Autor:
Xuan Zhao, Hung Ying Kao, Chang Jm, Lee Moay Lim, Daw Yang Hwang, Hung Chun Chen, Mei Chyn Chao, Wei Chiao Chang
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0138152 (2015)
PLoS ONE
PLoS ONE
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
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