Living with Marfan syndrome II: medication adherence and physical activity modification. Clin Genet 2001 Oct; 60(4): 283–92.Peters KF, Horne R, Kong F, Francomano CA, Biesecker BB (2001) Living with Marfan syndrome II. Medication adherence and physical activity modification. Clin Genet 60:...
Correction of the Marfan syndrome pathogenic FBN1 mutation by base editing in human cells and heterozygous embryos. Mol. Ther. https://doi.org/10.1016/j.ymthe.2018.08.007 (2018). CAS PubMed PubMed Central Google Scholar Chadwick, A. C., Wang, X. & Musunuru, K. In vivo base ...
The past 20 years have witnessed ever-growing evidence that the mechanical properties of biological tissues, from nanoscale to macroscale dimensions, are fundamental for cellular behaviour and consequent tissue functionality. This knowledge, combined with previously known biochemical cues, ...
That day my dad and I were simultaneously diagnosed with a genetic disorder called Marfan Syndrome. In a very tiny nutshell, it’s a connective tissue disorder found on the fibrillin one gene. It essentially weakens all connective tissue in the body. The result is a body whose heart, lungs,...
CA FrancomanoDepartment of MedicineBB BieseckerDepartment of MedicineClinical GeneticsPeters KF, Horne R, Kong F, et al. Living with Marfan syndrome II: medication adherence and physical activity modification. Clin Genet 2001 Oct; 60(4): 283–92....
Eighty-three percent of the respondents perceived Marfan syndrome as having had significant adverse consequences on their lives. Having striae, pain (sore joints), and depression were each independently correlated with this view. Fifty-eight percent of the respondents indicated that they felt they had...
Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AO. Systematic review of the psychosocial aspects of living with Marfan syndrome. Clin Genet. 2015;87(2):109-116.Velvin G, Bathen T, Rand-Hendriksen S, Geirdal AO. Systematic review of the psychosocial aspects of living with Marfan syndrome...
Special Editorial Living with the syndromedoi:10.3109/13816819609057862Marfan syndromebiographyVincent SchiavelliOphthalmic Genetics