Colombo EA - Search Results

1

Differential signature of the centrosomal MARK4 isoforms in glioma.

Magnani I, Novielli C, Fontana L, Tabano S, Rovina D, Moroni RF, Bauer D, Mazzoleni S, Colombo EA, Tedeschi G, Monti L, Porta G, Bosari S, Frassoni C, Galli R, Bello L, Larizza L. Magnani I, et al. Among authors: colombo ea. Anal Cell Pathol (Amst). 2011;34(6):319-38. doi: 10.3233/ACP-2011-0031. Anal Cell Pathol (Amst). 2011. PMID: 22156016 Free PMC article.

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. Among authors: colombo ea. 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

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: colombo ea. 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

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. 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: colombo ea. 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

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.

Colombo EA, Fontana L, Roversi G, Negri G, Castiglia D, Paradisi M, Zambruno G, Larizza L. Colombo EA, et al. Eur J Hum Genet. 2014 Nov;22(11):1298-304. doi: 10.1038/ejhg.2014.18. Epub 2014 Feb 12. Eur J Hum Genet. 2014. PMID: 24518840 Free PMC article.

7

Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.

Negri G, Crescenzi B, Colombo EA, Fontana L, Barba G, Arcioni F, Gervasini C, Mecucci C, Larizza L. Negri G, et al. Among authors: colombo ea. Br J Haematol. 2015 Nov;171(4):557-65. doi: 10.1111/bjh.13651. Epub 2015 Aug 25. Br J Haematol. 2015. PMID: 26306619 Free article.

8

A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.

Colombo EA, Carra S, Fontana L, Bresciani E, Cotelli F, Larizza L. Colombo EA, et al. Sci Rep. 2015 Nov 2;5:15814. doi: 10.1038/srep15814. Sci Rep. 2015. PMID: 26522474 Free PMC article.

9

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. 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.

10

Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib.

Gupta D, Chandrashekar L, Larizza L, Colombo EA, Fontana L, Gervasini C, Thappa DM, Rajappa M, Rajendiran KS, Sreenath GS, Kate V. Gupta D, et al. Among authors: colombo ea. Int J Dermatol. 2017 Feb;56(2):195-201. doi: 10.1111/ijd.13516. Int J Dermatol. 2017. PMID: 28074523

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