Pilotto A - Search Results

1

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Olivieri C, Pagella F, Semino L, Lanzarini L, Valacca C, Pilotto A, Corno S, Scappaticci S, Manfredi G, Buscarini E, Danesino C. Olivieri C, et al. Among authors: pilotto a. J Hum Genet. 2007;52(10):820-829. doi: 10.1007/s10038-007-0187-5. Epub 2007 Sep 5. J Hum Genet. 2007. PMID: 17786384

2

Gene symbol: CMD1A. Disease: Dilated cardiomyopathy associated with conduction system disease.

Arbustini EA, Pasotti M, Pilotto A, Repetto A, Grasso M, Diegoli M. Arbustini EA, et al. Among authors: pilotto a. Hum Genet. 2005 Jul;117(2-3):295. Hum Genet. 2005. PMID: 16156018 No abstract available.

3

Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1.

Arbustini Eloisa AE, Pilotto A, Pasotti M, Grasso M, Diegoli M, Campana C, Gavazzi A, Alessandra R, Tavazzi L. Arbustini Eloisa AE, et al. Among authors: pilotto a. Hum Genet. 2005 Jul;117(2-3):298. Hum Genet. 2005. PMID: 16156025 No abstract available.

4

Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction tissue defect 1.

Arbustini Eloisa AE, Pilotto A, Porcu E, Landolina M, Pasotti M, Lucchelli C, Disabella E, Tavazzi L. Arbustini Eloisa AE, et al. Among authors: pilotto a. Hum Genet. 2005 Jul;117(2-3):300. Hum Genet. 2005. PMID: 16156034 No abstract available.

5

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. Among authors: pilotto a. Hum Mutat. 2005 Nov;26(5):494. doi: 10.1002/humu.9377. Hum Mutat. 2005. PMID: 16222657

6

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: pilotto a. Eur J Hum Genet. 2006 Jan;14(1):34-8. doi: 10.1038/sj.ejhg.5201502. Eur J Hum Genet. 2006. PMID: 16251899

7

Gene symbol: LMNA.

Arbustini EA, Pasotti M, Pilotto A, Grasso M, Porcu E, Tocco G, Marziliano N. Arbustini EA, et al. Among authors: pilotto a. Hum Genet. 2007 Feb;120(6):907-8. Hum Genet. 2007. PMID: 17438593 No abstract available.

8

Gene symbol: LDB3.

Arbustini E, Rossi ML, Marziliano N, Presbitero P, Pilotto A, Pasotti M, Grasso M. Arbustini E, et al. Among authors: pilotto a. Hum Genet. 2007 Feb;120(6):910. Hum Genet. 2007. PMID: 17438604 No abstract available.

9

Gene symbol: LDB3.

Arbustini E, Rossi ML, Marziliano N, Presbitero P, Pilotto A, Pasotti M, Grasso M. Arbustini E, et al. Among authors: pilotto a. Hum Genet. 2007 Feb;120(6):916-7. Hum Genet. 2007. PMID: 17438622 No abstract available.

10

Gene symbol: LMNA.

Arbustini E, Pasotti M, Pilotto A, Grasso M, Tagliani M, Lucchelli C, Campana C, Chiriatti G, Marziliano N, Landolina M. Arbustini E, et al. Among authors: pilotto a. Hum Genet. 2007 Feb;120(6):917-8. Hum Genet. 2007. PMID: 17438626 No abstract available.

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