Zuntini R - Search Results

1

Searching for a needle in the haystack: comparing six methods to evaluate heteroplasmy in difficult sequence context.

Kurelac I, Lang M, Zuntini R, Calabrese C, Simone D, Vicario S, Santamaria M, Attimonelli M, Romeo G, Gasparre G. Kurelac I, et al. Among authors: zuntini r. Biotechnol Adv. 2012 Jan-Feb;30(1):363-71. doi: 10.1016/j.biotechadv.2011.06.001. Epub 2011 Jun 13. Biotechnol Adv. 2012. PMID: 21689740

2

An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cells.

Gasparre G, Iommarini L, Porcelli AM, Lang M, Ferri GG, Kurelac I, Zuntini R, Mariani E, Pennisi LF, Pasquini E, Pasquinelli G, Ghelli A, Bonora E, Ceccarelli C, Rugolo M, Salfi N, Romeo G, Carelli V. Gasparre G, et al. Among authors: zuntini r. Hum Mutat. 2009 Mar;30(3):391-6. doi: 10.1002/humu.20870. Hum Mutat. 2009. PMID: 19086058

3

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.

Pippucci T, Panza E, Pompilii E, Donadio V, Borreca A, Babalini C, Patrono C, Zuntini R, Kawarai T, Bernardi G, Liguori R, Romeo G, Montagna P, Orlacchio A, Seri M. Pippucci T, et al. Among authors: zuntini r. Eur J Neurol. 2009 Jan;16(1):121-6. doi: 10.1111/j.1468-1331.2008.02367.x. Eur J Neurol. 2009. PMID: 19087158

4

Placing mitochondrial DNA mutations within the progression model of type I endometrial carcinoma.

Guerra F, Kurelac I, Cormio A, Zuntini R, Amato LB, Ceccarelli C, Santini D, Cormio G, Fracasso F, Selvaggi L, Resta L, Attimonelli M, Gadaleta MN, Gasparre G. Guerra F, et al. Among authors: zuntini r. Hum Mol Genet. 2011 Jun 15;20(12):2394-405. doi: 10.1093/hmg/ddr146. Epub 2011 Apr 5. Hum Mol Genet. 2011. PMID: 21470976

5

Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion.

Pradella LM, Zuntini R, Magini P, Ceccarelli C, Neri I, Cerasoli S, Graziano C, Gasparre G, Turchetti D. Pradella LM, et al. Among authors: zuntini r. J Med Genet. 2011 Nov;48(11):779-82. doi: 10.1136/jmedgenet-2011-100152. Epub 2011 Sep 16. J Med Genet. 2011. PMID: 21926107

6

Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours.

Pradella LM, Lang M, Kurelac I, Mariani E, Guerra F, Zuntini R, Tallini G, MacKay A, Reis-Filho JS, Seri M, Turchetti D, Gasparre G. Pradella LM, et al. Among authors: zuntini r. Eur J Hum Genet. 2013 Oct;21(10):1169-72. doi: 10.1038/ejhg.2013.8. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386036 Free PMC article.

7

A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.

Pradella LM, Evangelisti C, Ligorio C, Ceccarelli C, Neri I, Zuntini R, Amato LB, Ferrari S, Martelli AM, Gasparre G, Turchetti D. Pradella LM, et al. Among authors: zuntini r. BMC Cancer. 2014 Feb 6;14:70. doi: 10.1186/1471-2407-14-70. BMC Cancer. 2014. PMID: 24498881 Free PMC article.

8

A unique combination of rare mitochondrial ribosomal RNA variants affects the kinetics of complex I assembly.

Porcelli AM, Calvaruso MA, Iommarini L, Kurelac I, Zuntini R, Ferrari S, Gasparre G. Porcelli AM, et al. Among authors: zuntini r. Int J Biochem Cell Biol. 2016 Jun;75:117-22. doi: 10.1016/j.biocel.2016.04.007. Epub 2016 Apr 19. Int J Biochem Cell Biol. 2016. PMID: 27102412

9

An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene.

Sazzini M, Zuntini R, Farjadian S, Quinti I, Ricci G, Romeo G, Ferrari S, Calafell F, Luiselli D. Sazzini M, et al. Among authors: zuntini r. Genes Immun. 2009 Sep;10(6):566-78. doi: 10.1038/gene.2009.43. Epub 2009 Jun 4. Genes Immun. 2009. PMID: 19494827

10

Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?

Zuntini R, Bonora E, Pradella LM, Amato LB, Vidone M, De Fanti S, Catucci I, Cortesi L, Medici V, Ferrari S, Gasparre G, Peterlongo P, Sazzini M, Turchetti D. Zuntini R, et al. Int J Mol Sci. 2021 May 29;22(11):5832. doi: 10.3390/ijms22115832. Int J Mol Sci. 2021. PMID: 34072463 Free PMC article. Review.

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