نتایج جستجو برای: apert syndrome
تعداد نتایج: 621953 فیلتر نتایج به سال:
AIMS To demonstrate the expression patterns of two fibroblast growth factor receptors (FGFR-2 and FGFR-3) in the normal human fetal orbit. METHODS 6 microm orbital slide sections were prepared from 12 week old human fetal material obtained within established ethical guidelines. Radioactive in situ hybridisation techniques were used to demonstrate the expression patterns of FGFR-2 and FGFR-3 w...
T. Neuberger, K. Aldridge, C. A. Hill, J. A. Austin, T. M. Ryan, C. Percival, N. Martinez-Abadias, Y. Wang, E. Wang Jabs, A. G. Webb, and J. T. Richtsmeier The Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, PA, United States, University of Missouri-School of Medicine, Department of Anthropology, Pennsylvania State University, University Park, PA, United St...
Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome
Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS). Unlike the majority of FGFR2 mutations, S252W and P253R AS mutations and a D321A PS mutation retain ligand-dependency and are also associated with severe limb pathology. In addition, a recently ...
Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the parental origin of these FGFR2 mutations, the amplification refractory mutation system (ARMS) was used. ARMS PCR primers were developed to recognize polymorphisms that could distinguish maternal an...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید