Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Mei-Chyn Chao"'
Autor:
Hsiang-Yu Lin, Chung-Lin Lee, Sisca Fran, Ru-Yi Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao-Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Meng-Che Tsai, Mei-Chyn Chao, Li-Ping Tsai, Chia-Feng Yang, Pen-Hua Su, Yu-Wen Pan, Chen-Hao Lee, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin
Publikováno v:
Journal of Personalized Medicine, Vol 11, Iss 11, p 1197 (2021)
Background: Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder characterized by severe intrauterine growth retardation, poor postnatal growth, characteristic facial features, and body asymmetry. Hypomethylation of
Externí odkaz:
https://doaj.org/article/3257f6381d5e41c3a776238d745c4a55
Autor:
Sisca Fran, Meng Che Tsai, Hsiang-Yu Lin, Ya-Hui Chang, Chia-Ying Chang, Chung-Lin Lee, Li-Ping Tsai, Pao-Chin Chiu, Chih-Kuang Chuang, Yen Yin Chou, Tzu-Hung Chu, Yu-Wen Pan, Ru-Yi Tu, Chen-Hao Lee, Hui-Pin Hsiao, Chia-Feng Yang, Mei-Chyn Chao, Dau-Ming Niu, Pen-Hua Su, Shuan-Pei Lin
Publikováno v:
Journal of Personalized Medicine
Volume 11
Issue 11
Journal of Personalized Medicine, Vol 11, Iss 1197, p 1197 (2021)
Volume 11
Issue 11
Journal of Personalized Medicine, Vol 11, Iss 1197, p 1197 (2021)
Background: Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder characterized by severe intrauterine growth retardation, poor postnatal growth, characteristic facial features, and body asymmetry. Hypomethylation of
Autor:
Mei Chyn Chao, Pao Chin Chiu, Siew Lee Wong, Fuu Jen Tsai, Wei De Lin, Ni-Chung Lee, Yu Yuan Ke, Hui Pin Hsiao, Wuh-Liang Hwu, Yin-Hsiu Chien, Chung Hsing Wang, Shao Yin Chu, Beng Huat Lau, Rai Hseng Hsu
Publikováno v:
Journal of the Formosan Medical Association, Vol 118, Iss 1, Pp 142-147 (2019)
Background: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenot
Autor:
Jien-Wen Chien, Gwo-Chin Ma, Yu-Yuan Ke, Mei-Chyn Chao, Hsin-Ru Wu, Tung-Ming Chang, Ming Chen, Kuan-Jung Chen
Publikováno v:
Pediatrics and Neonatology, Vol 62, Iss 3, Pp 327-328 (2021)
Autor:
Ming-Ren Chen, Shuan-Pei Lin, Jui Lung Yen, Dau Ming Niu, Li Ping Tsai, Pao Lin Kuo, Mei Chyn Chao, Yann-Jinn Lee, Chi Yu Huang, Chih-Kuang Chuang, Hsiang-Yu Lin
Publikováno v:
Acta Paediatrica. 96:902-905
Aim: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader–Willi syndrome (PWS). Methods: We performed a retrospective analysis of 67 cases of molecularly confirmed PWS diagnosed from Janu
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,
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:
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
Publikováno v:
Molecular genetics and metabolism. 97(1)
CYP21A2 mutations resulting from microconversions of the CYP21A1P sequence in congenital adrenal hyperplasia (CAH) commonly appear in all populations. However, it has not often been described as being due to the gene founder effect. Herein, we invest
Autor:
Hsiang-Yu, Lin, Shuan-Pei, Lin, Chih-Kuang, Chuang, Ming-Ren, Chen, Jui-Lung, Yen, Yann-Jinn, Lee, Chi-Yu, Huang, Li-Ping, Tsai, Dau-Ming, Niu, Mei-Chyn, Chao, Pao-Lin, Kuo
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). 96(6)
Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader-Willi syndrome (PWS).We performed a retrospective analysis of 67 cases of molecularly confirmed PWS diagnosed from January 1980 through