Valeria Bertini - Search Results

Year	Number of Results
2005	1
2006	1
2008	1
2009	1
2015	1
2017	2
2020	2
2022	1
2023	1
2024	1

1

RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms.

Ritelli M, Chiarelli N, Cinquina V, Zoppi N, Bertini V, Venturini M, Colombi M. Ritelli M, et al. Among authors: bertini v. Cells. 2022 Dec 14;11(24):4040. doi: 10.3390/cells11244040. Cells. 2022. PMID: 36552803 Free PMC article.

2

Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts.

Chiarelli N, Cinquina V, Martini P, Bertini V, Zoppi N, Venturini M, Ritelli M, Colombi M. Chiarelli N, et al. Among authors: bertini v. Biochim Biophys Acta Mol Basis Dis. 2024 Jan;1870(1):166915. doi: 10.1016/j.bbadis.2023.166915. Epub 2023 Oct 10. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 37827202 Free article.

3

Human iPSC modelling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes.

Benzoni P, Campostrini G, Landi S, Bertini V, Marchina E, Iascone M, Ahlberg G, Olesen MS, Crescini E, Mora C, Bisleri G, Muneretto C, Ronca R, Presta M, Poliani PL, Piovani G, Verardi R, Di Pasquale E, Consiglio A, Raya A, Torre E, Lodrini AM, Milanesi R, Rocchetti M, Baruscotti M, DiFrancesco D, Memo M, Barbuti A, Dell'Era P. Benzoni P, et al. Among authors: bertini v. Cardiovasc Res. 2020 May 1;116(6):1147-1160. doi: 10.1093/cvr/cvz217. Cardiovasc Res. 2020. PMID: 31504264 Free PMC article.

4

Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report.

Maccarini S, Cipani A, Bertini V, Skripac J, Salvi A, Borsani G, Marchina E. Maccarini S, et al. Among authors: bertini v. Mol Cytogenet. 2020 Jun 22;13:23. doi: 10.1186/s13039-020-00493-3. eCollection 2020. Mol Cytogenet. 2020. PMID: 32582378 Free PMC article.

5

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a PITX2 p.M200V mutation.

Mora C, Serzanti M, Giacomelli A, Beltramone S, Marchina E, Bertini V, Piovani G, Refsgaard L, Olesen MS, Cortellini V, Dell'Era P. Mora C, et al. Among authors: bertini v. Stem Cell Res. 2017 Oct;24:8-11. doi: 10.1016/j.scr.2017.08.007. Epub 2017 Aug 10. Stem Cell Res. 2017. PMID: 29034898 Free article.

6

Generation of induced pluripotent stem cells (iPSC) from an atrial fibrillation patient carrying a KCNA5 p.D322H mutation.

Mora C, Serzanti M, Giacomelli A, Turco V, Marchina E, Bertini V, Piovani G, Savio G, Refsgaard L, Olesen MS, Cortellini V, Dell'Era P. Mora C, et al. Among authors: bertini v. Stem Cell Res. 2017 Oct;24:29-32. doi: 10.1016/j.scr.2017.08.009. Epub 2017 Aug 10. Stem Cell Res. 2017. PMID: 29034891 Free article.

7

SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

Magri C, Marchina E, Bertini V, Traversa M, Savio G, Pilotta A, Piovani G. Magri C, et al. Among authors: bertini v. BMC Med Genet. 2015 Jul 7;16:47. doi: 10.1186/s12881-015-0193-y. BMC Med Genet. 2015. PMID: 26149167 Free PMC article.

8

ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency.

Fiorini M, Piovani G, Schumacher RF, Magri C, Bertini V, Mazzolari E, Notarangelo L, Notarangelo LD, Barlati S. Fiorini M, et al. Among authors: bertini v. J Allergy Clin Immunol. 2009 Dec;124(6):1356-8. doi: 10.1016/j.jaci.2009.07.058. J Allergy Clin Immunol. 2009. PMID: 19864007 No abstract available.

9

Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.

Borsani G, Piovani G, Zoppi N, Bertini V, Bini R, Notarangelo L, Barlati S. Borsani G, et al. Among authors: bertini v. Eur J Med Genet. 2008 Jul-Aug;51(4):292-302. doi: 10.1016/j.ejmg.2008.02.006. Epub 2008 Mar 10. Eur J Med Genet. 2008. PMID: 18424204

10

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.

Piovani G, Borsani G, Bertini V, Kalscheuer VM, Viertel P, Bellotti D, Valseriati D, Barlati S. Piovani G, et al. Among authors: bertini v. Eur J Med Genet. 2006 May-Jun;49(3):215-23. doi: 10.1016/j.ejmg.2005.07.004. Epub 2005 Aug 25. Eur J Med Genet. 2006. PMID: 16762823

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