Arbustini E - Search Results

1

Aneurysm syndromes and TGF-beta receptor mutations.

Arbustini E, Marziliano N, Magrassi L. Arbustini E, et al. N Engl J Med. 2006 Nov 16;355(20):2155; author reply 2156. doi: 10.1056/NEJMc062573. N Engl J Med. 2006. PMID: 17108349 No abstract available.

2

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. Arbustini E, et al. Hum Mutat. 2005 Nov;26(5):494. doi: 10.1002/humu.9377. Hum Mutat. 2005. PMID: 16222657

3

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

Disabella E, Grasso M, Marziliano N, Ansaldi S, Lucchelli C, Porcu E, Tagliani M, Pilotto A, Diegoli M, Lanzarini L, Malattia C, Pelliccia A, Ficcadenti A, Gabrielli O, Arbustini E. Disabella E, et al. Among authors: arbustini e. Eur J Hum Genet. 2006 Jan;14(1):34-8. doi: 10.1038/sj.ejhg.5201502. Eur J Hum Genet. 2006. PMID: 16251899

4

Letter by Maurizia Grasso et al. regarding article, "Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation".

Grasso M, Pilotto A, Marziliano N, Pasotti M, Arbustini E. Grasso M, et al. Among authors: arbustini e. Int J Cardiol. 2008 Dec 17;131(1):144-5; author reply 146-7. doi: 10.1016/j.ijcard.2007.06.119. Epub 2007 Sep 4. Int J Cardiol. 2008. PMID: 17804094 No abstract available.

5

The shortness of Pygmies is associated with severe under-expression of the growth hormone receptor.

Bozzola M, Travaglino P, Marziliano N, Meazza C, Pagani S, Grasso M, Tauber M, Diegoli M, Pilotto A, Disabella E, Tarantino P, Brega A, Arbustini E. Bozzola M, et al. Among authors: arbustini e. Mol Genet Metab. 2009 Nov;98(3):310-3. doi: 10.1016/j.ymgme.2009.05.009. Epub 2009 May 28. Mol Genet Metab. 2009. PMID: 19541519

6

EDG3 and SHC3 on chromosome 9q22 are co-amplified in human ependymomas.

Magrassi L, Marziliano N, Inzani F, Cassini P, Chiaranda I, Skrap M, Pizzolito S, Arienta C, Arbustini E. Magrassi L, et al. Among authors: arbustini e. Cancer Lett. 2010 Apr 1;290(1):36-42. doi: 10.1016/j.canlet.2009.08.023. Epub 2009 Sep 12. Cancer Lett. 2010. PMID: 19748727

7

A method for morphological characterization of dural ectasia in Marfan syndrome.

Iacono MI, Passera K, Magrassi L, Dore R, Lago P, Arbustini E, Mainardi LT. Iacono MI, et al. Among authors: arbustini e. Annu Int Conf IEEE Eng Med Biol Soc. 2009;2009:5764-7. doi: 10.1109/IEMBS.2009.5332525. Annu Int Conf IEEE Eng Med Biol Soc. 2009. PMID: 19963654

8

alphaB-crystallin mutation in dilated cardiomyopathies: low prevalence in a consecutive series of 200 unrelated probands.

Pilotto A, Marziliano N, Pasotti M, Grasso M, Costante AM, Arbustini E. Pilotto A, et al. Among authors: arbustini e. Biochem Biophys Res Commun. 2006 Aug 11;346(4):1115-7. doi: 10.1016/j.bbrc.2006.05.203. Epub 2006 Jun 12. Biochem Biophys Res Commun. 2006. PMID: 16793013 No abstract available.

9

Cell density modulates SHC3 expression and survival of human glioblastoma cells through Fak activation.

Azzalin A, Moretti E, Arbustini E, Magrassi L. Azzalin A, et al. Among authors: arbustini e. J Neurooncol. 2014 Nov;120(2):245-56. doi: 10.1007/s11060-014-1551-x. Epub 2014 Jul 26. J Neurooncol. 2014. PMID: 25062668

10

Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.

Marziliano N, Mannarino S, Nespoli L, Diegoli M, Pasotti M, Malattia C, Grasso M, Pilotto A, Porcu E, Raisaro A, Raineri C, Dore R, Maggio PP, Brega A, Arbustini E. Marziliano N, et al. Among authors: arbustini e. Am J Med Genet A. 2007 May 1;143A(9):907-15. doi: 10.1002/ajmg.a.31653. Am J Med Genet A. 2007. PMID: 17394203 Free article.

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