Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Yirou Wang"'
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-10 (2024)
Abstract Background Kabuki syndrome (KS) is a monogenic disorder leading to special facial features, mental retardation, and multiple system malformations. Lysine demethylase 6A, (KDM6A, MIM*300128) is the pathogenic gene of Kabuki syndrome type 2 (K
Externí odkaz:
https://doaj.org/article/d77c0906954442b181a0d4daacbc03c7
Autor:
Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-en Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. This study d
Externí odkaz:
https://doaj.org/article/d98c01e1529f4d728287ac70ff3d4079
Autor:
Yijun Tang, Yao Chen, Jiayi Wang, Qianwen Zhang, Yirou Wang, Yufei Xu, Xin Li, Jian Wang, Xiumin Wang
Publikováno v:
Endocrine Connections, Vol 12, Iss 10, Pp 1-23 (2023)
Diagnosis and management strategy of disorders of sex developme nt (DSD) are difficult and various due to heterogeneous phenotype and genotype. Under widespread use of genomic sequencing technologies, multiple genes and mechanisms have been identifie
Externí odkaz:
https://doaj.org/article/acf0084fdc144edc88483c32276361a3
Autor:
Qianwen Zhang, Guoying Chang, Yijun Tang, Shili Gu, Yu Ding, Yao Chen, Yirou Wang, Shijian Liu, Jian Wang, Xiumin Wang
Publikováno v:
BMC Pediatrics, Vol 23, Iss 1, Pp 1-8 (2023)
Abstract Background Dyslipidemia, especially hypercholesterolemia is of significant clinical interest. Precise diagnosis is not paid enough attention to about the management of pediatric patients with hypercholesterolemia, which is especially apparen
Externí odkaz:
https://doaj.org/article/463fc0d63e374bd9b53b5a704021b638
Autor:
Yu Ding, Zhe Li, Qianwen Zhang, Niu Li, Guoying Chang, Yirou Wang, Xin Li, Juan Li, Qun Li, Ru-en Yao, Xiumin Wang
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundWFS1-related disorders involve a wide range of clinical phenotypes, including diabetes mellitus and neurodegeneration. Inheritance patterns of pathogenic variants of this gene can be autosomal recessive or dominant, and differences in penet
Externí odkaz:
https://doaj.org/article/37ff6ffbd9d34a109b85458eb1e13894
Autor:
Biyun Feng, Guoying Chang, Qianwen Zhang, Xin Li, Yijun Tang, Shili Gu, Yirou Wang, Jian Wang, Xiumin Wang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
Abstract Background Mosaic variegated aneuploidy (MVA) syndrome is a rare, autosomal recessive genetic disease. Here, we report an ultra‐rare case of MVA syndrome associated with a CEP57 variant. Methods We retrospectively analyzed the clinical dat
Externí odkaz:
https://doaj.org/article/95251c189a6e4e84816441bcb6eb37d6
Autor:
Yao Chen, Jianyong Chen, Yijun Tang, Qianwen Zhang, Yirou Wang, Qun Li, Xin Li, Zihan Weng, Ju Huang, Xiumin Wang, Shijian Liu
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
ObjectiveTo compared the incidence rates and clinical features of precocious girls before and during the COVID-19 pandemic among Shanghai school-aged girls, and explored the potential mechanisms.MethodsThis cross-sectional study collected medical dat
Externí odkaz:
https://doaj.org/article/55483e3fe31c4f40b7d7e8b181fd59cc
Autor:
Liying Sun, Qianwen Zhang, Qun Li, Yijun Tang, Yirou Wang, Xin Li, Niu Li, Jian Wang, Xiumin Wang
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by t
Externí odkaz:
https://doaj.org/article/19226a2d562a4da69d173cd62331ec97
Autor:
Qianwen Zhang, Yu Ding, Biyun Feng, Yijun Tang, Yao Chen, Yirou Wang, Guoying Chang, Shijian Liu, Jian Wang, Qian Li, Lijun Fu, Xiumin Wang
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Alström syndrome (ALMS) is a rare inherited metabolic disease and ciliopathy. Large cohorts of ALMS are lacking around the world. Detailed genetic and phenotypic data were obtained from all affected individuals. Olfactory function was evaluated by t
Externí odkaz:
https://doaj.org/article/7300dc31122e4c388af1627ef914df65
Autor:
Niu Li, Yirou Wang, Yu Yang, Pengpeng Wang, Hui Huang, Shiyi Xiong, Luming Sun, Min Cheng, Cui Song, Xinran Cheng, Yu Ding, Guoying Chang, Yao Chen, Yufei Xu, Tingting Yu, Ru-en Yao, Yiping Shen, Xiumin Wang, Jian Wang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-13 (2018)
Abstract Background Wiedemann–Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene. To date, only 2 Chin
Externí odkaz:
https://doaj.org/article/f0d6669fbafe4102b8661ff152c7c733