Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Xunzhao Zhou"'
Autor:
Qi Yang, Xunzhao Zhou, Sheng Yi, XiaoLing Li, Qiang Zhang, Shujie Zhang, Li Lin, Shang Yi, Biyan Chen, Zailong Qin, Jingsi Luo
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
IntroductionMutations in the protein WD repeat structural domain 26 (WDR26, MIM 617424) have been identified as the cause of autosomal dominant Skraban-Deardorff syndrome, a rare genetic disorder characterized by intellectual disability (ID), develop
Externí odkaz:
https://doaj.org/article/c20e17db125443eb98c7b4e20ec0d477
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Objective ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts, among which autosomal recessive Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare phenotype. In this
Externí odkaz:
https://doaj.org/article/9b0e45994a0143849b3a029506bf0839
Autor:
Qi Yang, Xunzhao Zhou, Yeying Ling, Qiang Zhang, Shang Yi, Qiuli Chen, Shujie Zhang, Zailong Qin, Jingsi Luo
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e27955- (2024)
Trichohepatoneurodevelopmental syndrome is an extremely uncommon autosomal recessive disorder resulting from variants in the CCDC47 gene, which encodes a Ca2+-binding endoplasmic reticulum (ER) transmembrane protein. To date, only four patients with
Externí odkaz:
https://doaj.org/article/a83d46d32c704998a1470d51eeacdb09
Autor:
Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
Abstract Background TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities (MIM 619243), is a rare autosomal dominant genetic disease mainly characterized by facial dysmorphism, developmental del
Externí odkaz:
https://doaj.org/article/e4c3e656efed4846a510f6d0dc4a7461
Autor:
Qi Yang, Qiang Zhang, Sheng Yi, Shujie Zhang, Shang Yi, Xunzhao Zhou, Zailong Qin, Biyan Chen, Jingsi Luo
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Kleefstra syndrome (KLEFS) refers to a rare inherited neurodevelopmental disorder characterized by intellectual disability (ID), language and motor delays, behavioral abnormalities, abnormal facial appearance, and other variable clinical features. KL
Externí odkaz:
https://doaj.org/article/c4612f9c4374459fa8993648021621d1
Autor:
Sheng Yi, Xiaofei Zhang, Qi Yang, Jingjing Huang, Xunzhao Zhou, Jiale Qian, Pingshan Pan, Shang Yi, Shujie Zhang, Qiang Zhang, Xianglian Tang, Limei Huang, Qinle Zhang, Zailong Qin, Jingsi Luo
Publikováno v:
Heliyon, Vol 9, Iss 10, Pp e20223- (2023)
Kabuki syndrome (KS) is a multiple congenital anomaly syndrome that is characterized by postnatal growth deficiency, hypotonia, short stature, mild-to-moderate intellectual disability, skeletal abnormalities, persistence of fetal fingertip pads, and
Externí odkaz:
https://doaj.org/article/d180c9f3a90c49c496bb7c29a7f3a342
Autor:
Sheng Yi, Zailong Qin, Xunzhao Zhou, Junjie Chen, Shang Yi, Qiuli Chen, Limei Huang, Qinle Zhang, Biyan Chen, Jingsi Luo
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)
Abstract Background Homozygous or compound heterozygous ROBO3 gene mutations cause horizontal gaze palsy with progressive scoliosis (HGPPS). This is an autosomal recessive disorder that is characterized by congenital absence or severe restriction of
Externí odkaz:
https://doaj.org/article/e38971df665f4890b1bf7887add53696
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveThe aim of this study was to identify causative variants associated with Allan-Herndon-Dudley syndrome (AHDS) in two unrelated Chinese families, and to determine their potential pathogenicity. We also summarized the core clinical symptoms of
Externí odkaz:
https://doaj.org/article/2d94134f977c4891bddcbf54dfeaf357
Autor:
Jiasun Su, Weiliang Lu, Mengting Li, Qiang Zhang, Fei Chen, Shang Yi, Qi Yang, Sheng Yi, Xunzhao Zhou, Limei Huang, Yiping Shen, Jingsi Luo, Zailong Qin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Abstract Background Congenital hydrocephalus‐3 with brain anomalies (HYC3, MIM 617967) is a rare form of congenital hydrocephalus characterized by severe hydrocephalus and cerebellar abnormalities, the onset of the disease occurs in utero even resu
Externí odkaz:
https://doaj.org/article/c7e3d389313f4acf9cf8e2aaaf58dddd
Autor:
Sisi Ning, Zhengbo Wei, Kui Yan, Xunzhao Zhou, Ying Xie, Mengwei Yao, Yuan Wu, Changtao Zhong
Publikováno v:
Pharmacogenomics and Personalized Medicine
Zhengbo Wei,1 Mengwei Yao,2 Sisi Ning,2 Yuan Wu,2 Xunzhao Zhou,2 Changtao Zhong,2 Kui Yan,2 Ying Xie3,4 1Department of Head and Neck Tumor Surgery, Cancer Hospital of Guangxi Medical University, Nanning, People’s Republic of China; 2Graduate School
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c64e73fb007373b51811381a15aae0d
https://www.dovepress.com/the-association-of-single-nucleotide-polymorphism-rs13181-in-ercc2-wit-peer-reviewed-article-PGPM
https://www.dovepress.com/the-association-of-single-nucleotide-polymorphism-rs13181-in-ercc2-wit-peer-reviewed-article-PGPM