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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]

©  2014 Projeto Pedagógico Integrado da FMDUP.Síndrome Hutchinson-Gilford

Projeto Pedagógico Integrado - 2014
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