Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ethylin W Jabs"'
Autor:
Tao Wu, Holger Schwender, Ingo Ruczinski, Jeffrey C Murray, Mary L Marazita, Ronald G Munger, Jacqueline B Hetmanski, Margaret M Parker, Ping Wang, Tanda Murray, Margaret Taub, Shuai Li, Richard J Redett, M Daniele Fallin, Kung Yee Liang, Yah Huei Wu-Chou, Samuel S Chong, Vincent Yeow, Xiaoqian Ye, Hong Wang, Shangzhi Huang, Ethylin W Jabs, Bing Shi, Allen J Wilcox, Sun Ha Jee, Alan F Scott, Terri H Beaty
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e88088 (2014)
Nonsyndromic cleft palate (CP) is one of the most common human birth defects and both genetic and environmental risk factors contribute to its etiology. We conducted a genome-wide association study (GWAS) using 550 CP case-parent trios ascertained in
Externí odkaz:
https://doaj.org/article/15d955c4715d4d6eac28bc45d965d600
Autor:
Erika Yeh, Roberto D Fanganiello, Daniele Y Sunaga, Xueyan Zhou, Gregory Holmes, Katia M Rocha, Nivaldo Alonso, Hamilton Matushita, Yingli Wang, Ethylin W Jabs, Maria Rita Passos-Bueno
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e60439 (2013)
Apert syndrome (AS), the most severe form craniosynostosis, is characterized by premature fusion of coronal sutures. Approximately 70% of AS patients carry S252W gain-of-function mutation in FGFR2. Besides the cranial phenotype, brain dysmorphologies
Externí odkaz:
https://doaj.org/article/435ec9e34bab4c81adb65d7519318ea8
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-17 (2021)
Abstract There is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congen
Externí odkaz:
https://doaj.org/article/0b824d92093b42b18a9475d624ed7b68
Autor:
Susan M. Motch Perrine, Tim Stecko, Thomas Neuberger, Ethylin W. Jabs, Timothy M. Ryan, Joan T. Richtsmeier
Publikováno v:
Frontiers in Human Neuroscience, Vol 11 (2017)
The brain and skull represent a complex arrangement of integrated anatomical structures composed of various cell and tissue types that maintain structural and functional association throughout development. Morphological integration, a concept develop
Externí odkaz:
https://doaj.org/article/5fbd60253ea04931aec0a5e2933fd03b