Síndrome Hutchinson-Gilford

REFERÊNCIAS:
1. Hutchinson J. Congenital Absence of Hair and Mammary Glands with Atrophic Condition of the Skin and its Appendages, in a Boy whose Mother had been almost wholly Bald from Alopecia Areata from the age of Six. Medico-Chirurgical Transactions. 1886;69:473-7.
2. McKusick VA. The Gordon Wilson Lecture: The clinical legacy of Jonathan Hutchinson (1828-1913): syndromology and dysmorphology meet genomics. Transactions Of The American Clinical And Climatological Association. 2005;116:15-38.
3. Xiong Z, Lu Y, Xue J, Luo S, Xu X, Zhang L, et al. Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports. Journal of medical case reports. 2013;7.
4. KAREN GORDON BETOURNARY, 1999. Progeria Research Foundation, SPECTRUM Science Communications, Available at: http://www.progeriaresearch.org/ [Acessed 20 April 2014]
5. Cleveland RH, Gordon LB, Kleinman ME, Miller DT, Gordon CM, Snyder BD, et al. A prospective study of radiographic manifestations in Hutchinson-Gilford progeria syndrome. Pediatric Radiology. 2012;42:1089-98.
6. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003;423(6937):293-8.
7. Chi Y-H, Chen Z-J, Jeang K-T. The nuclear envelopathies and human diseases. Journal Of Biomedical Science. 2009;16:96-.
8. Gordon LB, Cao K, Collins FS. Progeria: translational insights from cell biology. The Journal Of Cell Biology. 2012;199(1):9-13.
9. Maier AB, Westendorp RGJ, Van Heemst D. β-Galactosidase Activity as a Biomarker of Replicative Senescence during the Course of Human Fibroblast Cultures. Annals of the New York Academy of Sciences. 2007;1100:323-32.
10. Busch A, Kiel T, Heupel W-M, Wehnert M, Hübner S. Nuclear protein import is reduced in cells expressing nuclear envelopathy-causing lamin A mutants. Experi mental Cell Research. 2009;315(14):2373-85.
11. Benson EK, Lee SW, Aaronson SA. Role of progerin-induced telomere dysfunction in HGPS premature cellular senescence. Journal Of Cell Science. 2010;123(Pt 15):2605-12.
12. Gordon LB, Kleinman ME, Miller DT, Neuberg DS, Giobbie-Hurder A, Gerhard-Herman M, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome. Proceedings of the National Academy of Sciences of the United States of America. 2012;109(41):16666-71.
13. MARK W. KIERAN, 2014. Physician Profile. Dana-Farber Cancer Institute. Available at: http://doctors.dana-farber.org/directory/profile.asp?pict_id=0000034 [Accessed 2 April 2014].
14. SEAN FINE & ANDREA NIX FINE, 2013. Life According to Sam, HBO Documentaries, Available at: http://lifeaccordingtosam.com/ [Acessed 19 April 2014]
15. SAM BERNS, 2013. My Philosophy for a Happy Life, TEDxTalks, Available at: http://tedxtalks.ted.com/video/My-philosophy-for-a-happy-life [Acessed 19 April 2014]