Fragile X syndrome (FXS) is a rare genetic disorder, affecting 1 in every 3,600 that causes intellectual disability, behavioral and learning challenges, and various physical characteristics such as flat feet, double-jointed fingers, and hyperflexible joints. Many of the characteristics of FXS, ...
Objective:Clinical and cytogenetic features of the probands of fragile X syndrome were analysed to explore the diagnosis of the disease.Methods:Both clinic... J Chen,R Jin,A Yang - 《Chinese Journal of Birth Health & Heredity》 被引量: 0发表: 2001年 Development of coronary heart disease in...
Due to obesity and behavioral problems, children with Prader-Willi syndrome may seem disinterested in participating in physical education. Because of this apparent disinterest in physical activity and need for increased physical activity to control their weight, it is very important that these children ...
Thus, the ability of the solvent to affect the properties of protein molecules, along with the possibility of altering the properties of the solvent through technological processing, formed the basis for the development of drugs based on HD antibodies12. However, the nature of this effect from a...
there are a number of genetic dis- orders that are known to be associated with higher rates of ASD, such as Rett Syndrome, Fragile X and Down Syndrome, further illustrating the multiple aetiologies associated with this disorder.23 Large scale whole genome analyses have identified additional suscep...
Normal-weight obesity appears to be an extended diagnosis/syndrome associated with insufficient physical fitness levels and inadequate eating habits at least from school years. However, its relation to long term health parameters in pre-school children remains unknown, even though pre-school age is cr...
Many children diagnosed with CHARGE syndrome demonstrate behavioral difficulties in addition to visual, hearing and other systemic impairments. Previous re
fragile X syndromeprepubertal boysphysical characteristicsFragile X syndrome is the leading form of hereditary mental retardation, but the condition is still underdiagnosed in young children. Because of concern that the fragile X phenotype is subtle in young boys and therefore contributes to under...
Physical and oral characteristics of fragile X syndrome: literature reviewdoi:10.22456/2177-0018.99833Giovana Badan MartinsBruna Luiza Roim VarottoAna Eliza Dures de FariaRita de Cássia DOttaviano NápoleReynaldo AntequeraUniversidade Federal do Rio Grande do Sul...
Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome. Cell, 64 , 861–866.Bell MV, Hirst MC, Nakahori Y, MacKinnon RN, Roche A, Flint TJ, et al. Physical mapping across the fragile X: hypermethylation and clinical expression of the ...