Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Li-Ping Tsai"'
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Introduction: Attention problems are frequently observed in patients with Prader–Willi syndrome (PWS); however, only few studies have investigated the severity and mechanisms of attention problems in them. In this study, we aim to evaluate dynamic
Externí odkaz:
https://doaj.org/article/4b0733a2a26140f49a509939dec5c398
Autor:
Rui-Ni Wu, Wei-Chen Hung, Ching-Tsuey Chen, Li-Ping Tsai, Wen-Sung Lai, Ming-Yuan Min, Shi-Bing Wong
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-12 (2020)
Abstract Background Prader–Willi syndrome (PWS) is a neurodevelopmental disorder characterized by multiple respiratory, cognitive, endocrine, and behavioral symptoms, such as central apnea, intellectual disabilities, exaggerated stress responses, a
Externí odkaz:
https://doaj.org/article/ea990e5975554037b5bc7cbf7cc93bf0
Publikováno v:
Tzu-Chi Medical Journal, Vol 32, Iss 2, Pp 137-144 (2020)
Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are considered sister imprinting disorders. Although both AS and PWS congenital neurodevelopmental disorders have chromosome 15q11.3-q13 dysfunction, their molecular mechanisms differ owing to
Externí odkaz:
https://doaj.org/article/797fbb3eed3c45e5a6efbcfcd6e07fcb
Publikováno v:
Tzu-Chi Medical Journal, Vol 31, Iss 2, Pp 113-117 (2019)
Objective: Prone sleep is an identified risk factor for sudden infant death syndrome, possibly due to reduced blood pressure, cerebral oxygenation, and impaired cerebral vascular control. Cardiac and respiratory responses in neonates during supine an
Externí odkaz:
https://doaj.org/article/4f30c12b0e5f4c15a72b07a842ee70ce
Publikováno v:
Children, Vol 9, Iss 6, p 912 (2022)
Obstructive sleep apnea syndrome (OSAS) is one of the most common comorbidities in patients with Prader–Willi syndrome (PWS) and causes significant consequences. This observational study was conducted to investigate the progression of OSAS in pedia
Externí odkaz:
https://doaj.org/article/d0dc763057a34004832c29686baa00b3
Autor:
Ching-Ming Lin, Jay-How Yang, Hwei-Jen Lee, Yu-Pang Lin, Li-Ping Tsai, Chih-Sin Hsu, G. W. Gant Luxton, Chih-Fen Hu
Publikováno v:
Life, Vol 11, Iss 11, p 1230 (2021)
Background: Cockayne syndrome (CS) is a rare form of dwarfism that is characterized by progressive premature aging. CS is typically caused by mutations in the excision repair cross-complementing protein group 6 (ERCC6) gene that encodes the CS group
Externí odkaz:
https://doaj.org/article/2f06896b361347308d379e7f110296a8
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:
Ying-Ju Lin, Wen-Ling Liao, Chung-Hsing Wang, Li-Ping Tsai, Chih-Hsin Tang, Chien-Hsiun Chen, Jer-Yuarn Wu, Wen-Miin Liang, Ai-Ru Hsieh, Chi-Fung Cheng, Jin-Hua Chen, Wen-Kuei Chien, Ting-Hsu Lin, Chia-Ming Wu, Chiu-Chu Liao, Shao-Mei Huang, Fuu-Jen Tsai
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)
Abstract Human height can be described as a classical and inherited trait model. Genome-wide association studies (GWAS) have revealed susceptible loci and provided insights into the polygenic nature of human height. Familial short stature (FSS) repre
Externí odkaz:
https://doaj.org/article/78bc59b5d1f841d4ba370237da413dde
Publikováno v:
PeerJ, Vol 5, p e4097 (2017)
Background Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by a variety of physical, cognitive, and behavioral impairments. PWS is a unique sarcopenia model characterized by an abnormal increase in body fat mass a
Externí odkaz:
https://doaj.org/article/2c1cefe2817d4bd78a4a4fb2ab2d6822
Autor:
Yin-Hsiu Chien, Shu-Chuan Chiang, Kai-Ling Chang, Hsin-Hui Yu, Wen-I Lee, Li-Ping Tsai, Li-Wen Hsu, Min-Huei Hu, Wuh-Liang Hwu
Publikováno v:
Journal of the Formosan Medical Association, Vol 114, Iss 1, Pp 12-16 (2015)
In order to know the true incidence of severe combined immunodeficiency (SCID) in a Chinese population, we conducted and implemented SCID newborn screening in Taiwan. Methods: Between May 1, 2010 and December 31, 2011, the National Taiwan University
Externí odkaz:
https://doaj.org/article/47823ec2e47946bab9ee4bcdafed0b58