Zobrazeno 1 - 10
of 1 598
pro vyhledávání: '"Williams-Beuren"'
Publikováno v:
Неонатологія, хірургія та перинатальна медицина, Vol 14, Iss 2(52) (2024)
The widespread introduction of molecular genetic research methods into health care practice has made it possible to diagnose rare microdeletion syndromes in patients with multiple congenital malformations.. Aim of the study is to present the results
Externí odkaz:
https://doaj.org/article/51267e3f775d4036a1fe775ad0618fd6
Autor:
Fabio Colins
Publikováno v:
Revista Nova Paideia, Vol 6, Iss 1 (2024)
Este artigo tem como objetivo analisar os prejuízos causados pela discalculia às habilidades matemáticas inerentes à evocação de fatos aritméticos. Para isso, foi desenvolvida uma pesquisa de natureza qualitativa e do tipo estudo de caso. O co
Externí odkaz:
https://doaj.org/article/04565f59fd764e52866f2b8e8ddbf474
Autor:
Delong Liu, Charles J. Billington, Neelam Raja, Zoe C. Wong, Mark D. Levin, Wulfgang Resch, Camille Alba, Daniel N. Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C. R. Parrish, Russell H. Knutsen, Sharon Osgood, Joy A. Freeman, Clifton L. Dalgard, Giuseppe Merla, Barbara R. Pober, Carolyn B. Mervis, Amy E. Roberts, Colleen A. Morris, Lucy R. Osborne, Beth A. Kozel
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 3 (2024)
Background Supravalvar aortic stenosis (SVAS) is a characteristic feature of Williams–Beuren syndrome (WBS). Its severity varies: ~20% of people with Williams–Beuren syndrome have SVAS requiring surgical intervention, whereas ~35% have no appreci
Externí odkaz:
https://doaj.org/article/e2bf0005fc8048d4b610451362a2ab88
Autor:
Bianca Soares Carlotto, Desirée Deconte, Bruna Lixinski Diniz, Priscila Ramires da Silva, Paulo Ricardo Gazzola Zen, André Anjos da Silva
Publikováno v:
Revista Paulista de Pediatria, Vol 42 (2023)
ABSTRACT Objective: The aim of this study was to sum up and characterize all Williams-Beuren syndrome cases diagnosed by fluorescence in situ hybridization (FISH) since its implementation, as well as to discuss FISH as a cost-effective methodology in
Externí odkaz:
https://doaj.org/article/3ff88c1f10004958b448469b8a00a320
Autor:
Devishree Das, Neeti Makhija
Publikováno v:
Annals of Cardiac Anaesthesia, Vol 26, Iss 1, Pp 94-96 (2023)
Williams-Beuren syndrome is a rare genetic malformation with predilection for supravalvular aortic stenosis. Apart from cardiovascular malformation, hypocalcemia, developmental delay, and elfin facies, challenging airway make perioperative management
Externí odkaz:
https://doaj.org/article/d020e4bffc6f470a8ae3a81c8279c1b1
Akademický článek
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Akademický článek
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Autor:
Ruibin Huang, Hang Zhou, Fang Fu, Ru Li, Tingying Lei, Yingsi Li, Ken Cheng, You Wang, Xin Yang, Lushan Li, Xiangyi Jing, Yongling Zhang, Fucheng Li, Dongzhi Li, Can Liao
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-6 (2022)
Abstract Background There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis and des
Externí odkaz:
https://doaj.org/article/fd6360d149a34d9ba2b2c451eebbd8f8
Autor:
Yunan Wang, Chang Liu, Rong Hu, Juan Geng, Jian Lu, Xianzhe Zhao, Ying Xiong, Jing Wu, Aihua Yin
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
ObjectiveTo share our experience on prenatal diagnosis of Williams-Beuren syndrome(WBS) and to improve the awareness, diagnosis, and intrauterine monitoring of the fetuses of this disease.MethodsThe study retrospectively evaluated 14 cases of WBS dia
Externí odkaz:
https://doaj.org/article/96669c7f040e4ec3afa309731dc7d5be
Autor:
Jianrong Zhou, Ying Zheng, Guiying Liang, Xiaoli Xu, Jian Liu, Shaoxian Chen, Tongkai Ge, Pengju Wen, Yong Zhang, Xiaoqing Liu, Jian Zhuang, Yueheng Wu, Jimei Chen
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)
Abstract Genes associated with specific neurocognitive phenotypes in Williams–Beuren syndrome are still controversially discussed. This study identified nine patients with atypical deletions out of 111 patients with Williams–Beuren syndrome; thes
Externí odkaz:
https://doaj.org/article/76a2c0e2ffda4b969f78acd6a502a732