Zobrazeno 1 - 10
of 660
pro vyhledávání: '"Atm gene"'
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Ataxia-Telangiectasia (A-T) is a rare, autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, and increased cancer risk. Mutations in the ATM gene, which is essential for DNA dama
Externí odkaz:
https://doaj.org/article/7476f3c19869459b98dfc9e303a4406e
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundAtaxia-telangiectasia (A-T) is a multisystem genetic disorder involving ataxia, oculocutaneous telangiectasia, and immunodeficiency caused by biallelic pathogenic variants in the ATM gene. To date, most ATM variants have been reported in th
Externí odkaz:
https://doaj.org/article/7207863345be4359a4f6aaeda1e68499
Akademický článek
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Autor:
Marzieh Heidarzadeh Arani, Reza ArefNezhad, Javad Fathgharib, Asghar Aghamohammadi, Hossein Motedayyen
Publikováno v:
Clinical Case Reports, Vol 9, Iss 1, Pp 556-559 (2021)
Abstract Ataxia‐telangiectasia (A‐T) is known as an uncommon autosomal recessive disorder associated with recurrent infections and other clinical complications. The management of its complications can improve life quality of patients.
Externí odkaz:
https://doaj.org/article/620d881fc4464e09bc8809e02c4e02f0
Autor:
Peng Huang, Lu Zhang, Li Tang, Yi Ren, Hong Peng, Jie Xiong, Lingjuan Liu, Jie Xu, Yangyang Xiao, Jian Li, Dingan Mao, Liqun Liu
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveThe clinical manifestations of ataxia–telangiectasia (AT) are very complex and are easily misdiagnosed and missed. The purpose of this study was to explore the clinical characteristics and genetic features of five pediatric patients with A
Externí odkaz:
https://doaj.org/article/fe06981a2f354d6ca402c812f7e5a2c1
Publikováno v:
Drug Design, Development and Therapy, Vol Volume 14, Pp 2517-2534 (2020)
Zhenli Min,1,2,* Yue Zhu,1,3,* Xing Hong,1 Zhijun Yu,1,2 Min Ye,1,2 Qiong Yuan,1,2 Xiamin Hu4 1Hubei Province Key Laboratory of Occupational Hazard Identification and Control, Wuhan University of Science and Technology, Wuhan 430081, People’s Repub
Externí odkaz:
https://doaj.org/article/453c54ff8a394c339121fad310a4389f
Autor:
Giulia Federici, Silvia Soddu
Publikováno v:
Journal of Experimental & Clinical Cancer Research, Vol 39, Iss 1, Pp 1-12 (2020)
Abstract The promising expectations about personalized medicine have opened the path to routine large-scale sequencing and increased the importance of genetic counseling for hereditary cancers, among which hereditary breast and ovary cancers (HBOC) h
Externí odkaz:
https://doaj.org/article/4f32f07d62474cd297ad1c92f8a847fe
Akademický článek
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Autor:
Abed A. Aljamal, Mohamad K. Elajami, Ephraim H. Mansour, Hisham F. Bahmad, Ana Maria Medina, Mike Cusnir
Publikováno v:
Diseases, Vol 10, Iss 4, p 115 (2022)
Ataxia-telangiectasia is an autosomal recessive disorder that usually manifests in childhood due to mutations in the Ataxia-Telangiectasia Mutated (ATM) gene. It is believed that there is an association between this gene mutation/polymorphism and can
Externí odkaz:
https://doaj.org/article/390927698ca14445b3e15658a71d30a8
Akademický článek
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