Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Yongyi, Zou"'
Autor:
Qing Lu, Laipeng Luo, Baitao Zeng, Haiyan Luo, Xianjin Wang, Lijuan Qiu, Yan Yang, Chuanxin Feng, Jihui Zhou, Yanling Hu, Tingting Huang, Pengpeng Ma, Ting Huang, Kang Xie, Huizhen Yuan, Shuhui Huang, Bicheng Yang, Yongyi Zou, Yanqiu Liu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background and objectives Congenital heart defect (CHD) is one of the most common birth defects. The aim of this cohort study was to evaluate the prevalence of chromosomal abnormalities and the clinical utility of chromosomal microarray anal
Externí odkaz:
https://doaj.org/article/be0dc194fa524d1fae92b68b64eff4c6
Autor:
Cheng Huang, Haiyan Luo, Baitao Zeng, Chuanxin Feng, Jia Chen, Huizhen Yuan, Shuhui Huang, Bicheng Yang, Yongyi Zou, Yanqiu Liu
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background and purpose: Intellectual disability-7 (MRD7) is a subtype disorder of intellectual disability (MRD) involving feeding difficulties, hypoactivity, and febrile seizures at an age of early onset, then progressive intellectual and physical de
Externí odkaz:
https://doaj.org/article/7fd74913cf8c48adbbe8a18e08c6c879
Autor:
Baitao Zeng, Haoyi Zhang, Qing Lu, Qingzi Fu, Yang Yan, Wan Lu, Pengpeng Ma, Chuanxin Feng, Jiawei Qin, Laipeng Luo, Bicheng Yang, Yongyi Zou, Yanqiu Liu
Publikováno v:
Frontiers in Behavioral Neuroscience, Vol 17 (2023)
BackgroundEpilepsy is characterized by recurrent unprovoked seizures. Mutations in the voltage-gated sodium channel alpha subunit 1 (SCN1A) gene are the main monogenic cause of epilepsy. Type and location of variants make a huge difference in the sev
Externí odkaz:
https://doaj.org/article/9ef41a29de574fdf9c006fd477ca8af7
Autor:
Huihua Rao, Haoyi Zhang, Yongyi Zou, Pengpeng Ma, Tingting Huang, Huizhen Yuan, Jihui Zhou, Wan Lu, Qiao Li, Shuhui Huang, Yanqiu Liu, Bicheng Yang
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background and aims: Certain chromosomal structural variations (SVs) in biological parents can lead to recurrent spontaneous abortions (RSAs). Unequal crossing over during meiosis can result in the unbalanced rearrangement of gamete chromosomes such
Externí odkaz:
https://doaj.org/article/80804f40c5a94b11902623e28a34c012
Autor:
Baitao Zeng, Qing Lu, Shaohong Chen, Huizhen Guan, Xiaolan Xu, Yongyi Zou, Feng Wang, Shuhui Huang, Yanqiu Liu, Bicheng Yang
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive disorder of amino acid metabolism and caused by mutations in the phenylalanine hydroxylase (PAH) gene. Without timely and appropriate dietary management, the disturbanc
Externí odkaz:
https://doaj.org/article/9f13985710324df08bb812e70bd5beeb
Autor:
Yongyi Zou, Chuanxin Feng, Jiawei Qin, Xinrong Wang, Tingting Huang, Yan Yang, Kang Xie, Huizhen Yuan, Shuhui Huang, Bicheng Yang, Wan Lu, Yanqiu Liu
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
To evaluate the performance of expanded non-invasive prenatal testing (expanded noninvasive prenatal testing, NIPT-Plus) in screening for fetal chromosomal abnormalities includes aneuploidies and copy number variations, a total of 23,116 pregnant wom
Externí odkaz:
https://doaj.org/article/1e531bd602d2415fab283a68df6663fa
Autor:
Kang Xie, Baitao Zeng, Liuyang Zhang, Shaohong Chen, Yongyi Zou, Huizhen Yuan, Shuhui Huang, Feng Wang, Qing Lu, Yanqiu Liu, Bicheng Yang
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Hyperphenylalaninemia (HPA) is the most common inborn error in amino acid metabolism. It can be primarily classified into phenylalanine hydroxylase (PAH) deficiency and tetrahydrobiopterin (BH4) deficiency. BH4 deficiency (BH4D) is caused
Externí odkaz:
https://doaj.org/article/c1e4acfc0cf54d3caa450f3dadfd575e
Autor:
Haiyan Luo, Yan Yang, Xinrong Wang, Fangping Xu, Cheng Huang, Danping Liu, Liuyang Zhang, Ting Huang, Pengpeng Ma, Qing Lu, Shuhui Huang, Bicheng Yang, Yongyi Zou, Yanqiu Liu
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Background and aimsConcurrent hearing and genetic screening of newborns have been widely adopted as an effective strategy in early diagnosis and intervention for hearing loss in many cities in China. Here, we aimed to firstly explore the efficacy of
Externí odkaz:
https://doaj.org/article/23fd13a4d0aa4996bde023a5f5025f39
Autor:
Haiyan Luo, Ting Huang, Qing Lu, Liuyang Zhang, Yonghua Xu, Yan Yang, Zhen Guo, Huizhen Yuan, Yinqin Shen, Shuhui Huang, Bicheng Yang, Yongyi Zou, Yanqiu Liu
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background and aims: Hemoglobinopathy associated with the HBB gene, with its two general subtypes as thalassemia and abnormal hemoglobin (Hb) variants, is one of the most prevalent hereditary Hb disorders worldwide. Herein we aimed to elucidate the p
Externí odkaz:
https://doaj.org/article/74b8d14b3d50403b89ac82e8c8f3283e
Autor:
Yongyi Zou, Haiyan Luo, Huizhen Yuan, Kang Xie, Yan Yang, Shuhui Huang, Bicheng Yang, Yanqiu Liu
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Background and PurposeInfantile neuroaxonal dystrophy (INAD) is a subtype of PLA2G6-Associated Neurodegeneration (PLAN) with an age of early onset and severe clinical phenotypes of neurodegeneration. Individuals affected with INAD are characterized b
Externí odkaz:
https://doaj.org/article/a25aff9afad74296821a13895126294b