Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Yilun Tao"'
Autor:
Xiufang Feng, Jiangyuan Ping, Shan Gao, Dong Han, Wenxia Song, Xiaoze Li, Yilun Tao, Lihong Wang
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract Alagille Syndrome (ALGS) is a complex genetic disorder characterized by cholestasis, congenital cardiac anomalies, and butterfly vertebrae. The variable phenotypic expression of ALGS can lead to challenges in accurately diagnosing affected i
Externí odkaz:
https://doaj.org/article/1bc3d3cdf42e418b9de68d11607b776b
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an infrequent autosomal dominant genetic disorder caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene. In this report, we present a case study of a 6-year-old fem
Externí odkaz:
https://doaj.org/article/54906215d0ca470aaeaa4b0f651005b7
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy. PKAN is caused by bialleli
Externí odkaz:
https://doaj.org/article/d338bfb2d0b94bb6b8706f7495f27b5e
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Objective: To evaluate positive rate and accuracy of non-invasive prenatal testing (NIPT) combining Z-score and maternal copy number variation (CNV) analysis. To assess the relationship between Z-score and positive predictive value (PPV).Methods: Thi
Externí odkaz:
https://doaj.org/article/0e70afbf1813421daaf8a66242afff62
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Infantile hypotonia with psychomotor retardation and characteristic facies 2 (IHPRF2) is a rare autosomal recessive neurodevelopmental disorder caused by mutations in the UNC80 gene. It is characterized by severe global developmental dela
Externí odkaz:
https://doaj.org/article/ae7e9a1e177a46ffaf2b6af827df435e
Publikováno v:
Medicine; 8/16/2024, Vol. 103 Issue 33, p1-4, 4p
Autor:
Yilun Tao
Supplemental Figure 1. Mean age of diagnosis for each HDR defect based on mutation type. (a) Diagnosis of HDR defects occurred at a earlier age in the 192 patients with missense mutations (n = 42), compared to patients with null mutations (which incl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03f1831fd03dd422d6c9b5c0622915db
Autor:
Dong Han, Lihong Wang, Yilun Tao, Chenggang Huang, Xiaoze Li, Lili Yue, Xi-Yuan Li, Dandan Lu
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 509
Ethylmalonic encephalopathy (EE) is a rare and devastating neurodegenerative disease caused by mutations in the ETHE1 gene. It is characterized by early-onset encephalopathy, chronic diarrhea, petechiae, orthostatic acrocyanosis, and high levels of m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f775e62eee34727aa3409e0aa1bcd5
https://pubmed.ncbi.nlm.nih.gov/32485156
https://pubmed.ncbi.nlm.nih.gov/32485156