Zobrazeno 1 - 7
of 7
pro vyhledávání: '"22q11.1q11.21 duplication"'
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Purpose This paper presents a report on two uncommon instances of cat eye syndrome in a Chinese family. Case presentation The proband, a 23-year-old female, exhibited a diminutive cornea and complete blindness in her right eye, and the uncor
Externí odkaz:
https://doaj.org/article/4029b2a666974cd4ba2f8b04a88297c6
Autor:
Wang, Yanan1 (AUTHOR) wyanan0202@163.com, Zhang, Pai1 (AUTHOR), Chai, Yuqiong1 (AUTHOR), Zang, Weiwei1 (AUTHOR)
Publikováno v:
Molecular Cytogenetics (17558166). 10/25/2023, Vol. 16 Issue 1, p1-7. 7p.
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Cat eye syndrome (CES) is a rare congenital disease frequently caused by a partial tetrasomy of the proximal long (q) arm of chromosome 22, due to a small supernumerary marker chromosome (sSMC). CES patients show remarkable phenot
Externí odkaz:
https://doaj.org/article/371e6779109f4e0d9cab30b15516048d
Akademický článek
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Autor:
Hsiao, Ching-Hua1,2 (AUTHOR) DAZ07@tpech.gov.tw, Chen, Jia-Shing3 (AUTHOR) cjshing77@gmail.com, Shiao, Yu-Ming4,5 (AUTHOR) yumingshiao@gmail.com, Chen, Yann-Jang6 (AUTHOR) yjchen0206@nycu.edu.tw, Chen, Ching-Hsuan2 (AUTHOR), Chu, Woei-Chyn1 (AUTHOR) wu102007@gmail.com, Wu, Yi-Cheng1,7 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. Jul2022, Vol. 11 Issue 13, p3624-N.PAG. 19p.
Autor:
Verberne, Eline A., Westermann, Jonne M., de Vries, Tamar I., Ecury‐Goossen, Ginette M., Lo‐A‐Njoe, Shirley M., Manshande, Meindert E., Faries, Sonja, Veenhuis, Hans D., Philippi, Patricia, Falix, Farah A., Rosina‐Angelista, Irsa, Ponson‐Wever, Maria, Rafael‐Croes, Louise, Thorsen, Patricia, Arends, Eric, de Vroomen, Maartje, Nagelkerke, Sietse Q., Tilanus, Martijn, van der Veken, Lars T., Huijsdens‐van Amsterdam, Karin
Publikováno v:
American Journal of Medical Genetics. Part A; Jun2022, Vol. 188 Issue 6, p1777-1791, 15p
Autor:
Liu, Yi, Lv, Yuqiang, Zarrei, Mehdi, Dong, Rui, Yang, Xiaomeng, Higginbotham, Edward J., Li, Yue, Zhao, Dongmei, Song, Fengling, Yang, Yali, Zhang, Haiyan, Wang, Ying, Scherer, Stephen W., Gai, Zhongtao
Publikováno v:
NPJ Genomic Medicine; 1/12/2022, Vol. 7 Issue 1, p1-10, 10p