Volpi L - Search Results

1

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.

Concolino D, Roversi G, Muzzi GL, Sestito S, Colombo EA, Volpi L, Larizza L, Strisciuglio P. Concolino D, et al. Among authors: volpi l. Am J Med Genet A. 2010 Oct;152A(10):2588-94. doi: 10.1002/ajmg.a.33600. Am J Med Genet A. 2010. PMID: 20734427

2

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.

Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L. Volpi L, et al. Am J Hum Genet. 2010 Jan;86(1):72-6. doi: 10.1016/j.ajhg.2009.11.014. Epub 2009 Dec 10. Am J Hum Genet. 2010. PMID: 20004881 Free PMC article.

3

Rothmund-Thomson syndrome.

Larizza L, Roversi G, Volpi L. Larizza L, et al. Among authors: volpi l. Orphanet J Rare Dis. 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. Orphanet J Rare Dis. 2010. PMID: 20113479 Free PMC article. Review.

4

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.

Colombo EA, Bazan JF, Negri G, Gervasini C, Elcioglu NH, Yucelten D, Altunay I, Cetincelik U, Teti A, Del Fattore A, Luciani M, Sullivan SK, Yan AC, Volpi L, Larizza L. Colombo EA, et al. Among authors: volpi l. Orphanet J Rare Dis. 2012 Jan 23;7:7. doi: 10.1186/1750-1172-7-7. Orphanet J Rare Dis. 2012. PMID: 22269211 Free PMC article.

5

Clinical utility gene card for: poikiloderma with neutropenia.

Larizza L, Negri G, Colombo EA, Volpi L, Sznajer Y. Larizza L, et al. Among authors: volpi l. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2012.298. Epub 2013 Jan 16. Eur J Hum Genet. 2013. PMID: 23321617 Free PMC article. No abstract available.

6

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.

Colombo EA, Spaccini L, Volpi L, Negri G, Cittaro D, Lazarevic D, Zirpoli S, Farolfi A, Gervasini C, Cubellis MV, Larizza L. Colombo EA, et al. Among authors: volpi l. Orphanet J Rare Dis. 2016 Oct 7;11(1):136. doi: 10.1186/s13023-016-0514-z. Orphanet J Rare Dis. 2016. PMID: 27717396 Free PMC article.

7

Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome.

Miozzo M, Castorina P, Riva P, Dalprà L, Fuhrman Conti AM, Volpi L, Hoe TS, Khoo A, Wiegant J, Rosenberg C, Larizza L. Miozzo M, et al. Among authors: volpi l. Int J Cancer. 1998 Aug 12;77(4):504-10. doi: 10.1002/(sici)1097-0215(19980812)77:4<504::aid-ijc5>3.0.co;2-y. Int J Cancer. 1998. PMID: 9679749

8

Activation of c-fos and c-fes in metastatic lympho-macrophage hybrids.

Fumagalli S, Volpi L, Rossi D, Larizza L. Fumagalli S, et al. Among authors: volpi l. Int J Cancer. 1992 Sep 30;52(3):478-82. doi: 10.1002/ijc.2910520324. Int J Cancer. 1992. PMID: 1399124

9

Differential induction of the two early genes c-jun and c-fos in weakly and strongly metastatic murine lymphoma cell lines.

Rossi D, Fumagalli S, Volpi L, Larizza L. Rossi D, et al. Among authors: volpi l. Int J Cancer. 1994 Apr 1;57(1):86-9. doi: 10.1002/ijc.2910570116. Int J Cancer. 1994. PMID: 8150544

10

An improved procedure for in situ RTPCR.

Volpi L, Doneda L, Grimoldi MG, Pollina E, Larizza L. Volpi L, et al. Mol Cell Probes. 1996 Feb;10(1):63-6. doi: 10.1006/mcpr.1996.0009. Mol Cell Probes. 1996. PMID: 8684378

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