Zobrazeno 1 - 10
of 107
pro vyhledávání: '"L A, Phylactou"'
Publikováno v:
Annals of the Rheumatic Diseases. 81:1856.1-1857
BackgroundWeiss-Kruszka syndrome (WSKA) is an autosomal dominant congenital anomaly syndrome due to mutations in the ZNF462 gene and manifests with developmental delay and multiple craniofacial abnormalities with variable expressivity1. It is also ch
Autor:
Wang J; College of Chemistry and Molecular Sciences, Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Wuhan University, 430072, Wuhan, P. R. China.; College of Health Science and Engineering, Key Laboratory for the Synthesis and Application of Organic Functional Molecules (Ministry of Education), Hubei University, 430062, Wuhan, P. R. China., Shang J; College of Chemistry and Molecular Sciences, Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Wuhan University, 430072, Wuhan, P. R. China., Yu S; College of Chemistry and Molecular Sciences, Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Wuhan University, 430072, Wuhan, P. R. China., Lin M; College of Chemistry and Molecular Sciences, Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Wuhan University, 430072, Wuhan, P. R. China., Gong X; College of Chemistry and Molecular Sciences, Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Wuhan University, 430072, Wuhan, P. R. China., Liu X; College of Chemistry and Molecular Sciences, Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Wuhan University, 430072, Wuhan, P. R. China., Liu Z; College of Health Science and Engineering, Key Laboratory for the Synthesis and Application of Organic Functional Molecules (Ministry of Education), Hubei University, 430062, Wuhan, P. R. China., Wang F; College of Chemistry and Molecular Sciences, Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Wuhan University, 430072, Wuhan, P. R. China.
Publikováno v:
Angewandte Chemie (International ed. in English) [Angew Chem Int Ed Engl] 2024 Oct 16, pp. e202417363. Date of Electronic Publication: 2024 Oct 16.
Publikováno v:
Clinical genetics. 84(6)
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by mutations in the CYP21A2 gene. The carrier frequency of CYP21A2 mutations has been estimated to be 1:25 to 1:10 on the b
Autor:
V, Neocleous, C, Shammas, A P, Phedonos, E, Karaoli, A, Kyriakou, M, Toumba, L A, Phylactou, N, Skordis
Publikováno v:
Georgian medical news. (210)
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder primarily caused by mutants in the CYP21A2 gene. Heterozygosity for CYP21A2 mutations in females increases their risk of clinically manifesting hyperandrogenism and the pre
Autor:
V, Neocleous, N, Skordis, G, Portides, E, Efstathiou, C, Costi, N, Ioannou, M, Pantzaris, V, Anastasiadou, C, Deltas, L A, Phylactou
Publikováno v:
Journal of endocrinological investigation. 34(10)
RET germline mutations predispose to the development of inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN2). Several variants of the RET proto-oncogene including G691S and S904S have been suggested to act as genetic modifiers at the
Autor:
L A, Phylactou
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 175
Publikováno v:
Methods in enzymology. 313
Autor:
Zardehi‐Tabriz, Ali1,2 (AUTHOR), Ghayebzadeh, Yoones1,2 (AUTHOR), Gerdroodbar, Amirhossein Enayati1,2 (AUTHOR), Golshan, Marzieh1,2 (AUTHOR), Roghani‐Mamaqani, Hossein1,2 (AUTHOR), Salami‐Kalajahi, Mehdi1,2 (AUTHOR) m.salami@sut.ac.ir
Publikováno v:
Macromolecular Materials & Engineering. Dec2023, Vol. 308 Issue 12, p1-20. 20p.
Autor:
Liu, Mohan1 (AUTHOR), Xie, Daoyuan1 (AUTHOR), Hu, Die1 (AUTHOR), Zhang, Rui1 (AUTHOR), Wang, Yusi1 (AUTHOR), Tang, Lin1 (AUTHOR), Zhou, Bailing1 (AUTHOR), Zhao, Binyan1 (AUTHOR), Yang, Li1 (AUTHOR) yl_tracy@scu.edu.cn
Publikováno v:
Advanced Science. 11/3/2023, Vol. 10 Issue 31, p1-18. 18p.
Publikováno v:
Polymer Chemistry; 11/21/2024, Vol. 15 Issue 43, p4454-4464, 11p