Venturin M - Search Results

1

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Moresco G, Bedeschi MF, Venturin M, Villa R, Costanza J, Mauri A, Santaniello C, Picciolini O, Messina L, Triulzi F, Miozzo MR, Rondinone O, Fontana L. Moresco G, et al. Among authors: venturin m. Genes (Basel). 2024 Jul 23;15(8):971. doi: 10.3390/genes15080971. Genes (Basel). 2024. PMID: 39202332 Free PMC article.

2

Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability.

Moncini S, Castronovo P, Murgia A, Russo S, Bedeschi MF, Lunghi M, Selicorni A, Bonati MT, Riva P, Venturin M. Moncini S, et al. Among authors: venturin m. J Hum Genet. 2016 Apr;61(4):283-93. doi: 10.1038/jhg.2015.144. Epub 2015 Dec 10. J Hum Genet. 2016. PMID: 26657932

3

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.

Moncini S, Bedeschi MF, Castronovo P, Crippa M, Calvello M, Garghentino RR, Scuvera G, Finelli P, Venturin M. Moncini S, et al. Among authors: venturin m. Meta Gene. 2013 Oct 29;1:102-8. doi: 10.1016/j.mgene.2013.09.004. eCollection 2013 Dec. Meta Gene. 2013. PMID: 25606380 Free PMC article.

4

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

Longoni M, Moncini S, Cisternino M, Morella IM, Ferraiuolo S, Russo S, Mannarino S, Brazzelli V, Coi P, Zippel R, Venturin M, Riva P. Longoni M, et al. Among authors: venturin m. Am J Med Genet A. 2010 Sep;152A(9):2176-84. doi: 10.1002/ajmg.a.33564. Am J Med Genet A. 2010. PMID: 20683980

5

ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome.

Venturin M, Carra S, Gaudenzi G, Brunelli S, Gallo GR, Moncini S, Cotelli F, Riva P. Venturin M, et al. J Med Genet. 2014 Jul;51(7):436-43. doi: 10.1136/jmedgenet-2013-102240. Epub 2014 Apr 7. J Med Genet. 2014. PMID: 24711647 Free article.

6

Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval.

Venturin M, Bentivegna A, Moroni R, Larizza L, Riva P. Venturin M, et al. Ann Hum Genet. 2005 Sep;69(Pt 5):508-16. doi: 10.1111/j.1529-8817.2005.00203.x. Ann Hum Genet. 2005. PMID: 16138909

7

Lost in HELLS: Disentangling the mystery of SALNR existence in senescence cellular models.

Consiglio A, Venturin M, Briguglio S, Rossi C, Grillo G, Bellosta S, Cattaneo MG, Licciulli F, Battaglia C. Consiglio A, et al. Among authors: venturin m. PLoS One. 2023 May 30;18(5):e0286104. doi: 10.1371/journal.pone.0286104. eCollection 2023. PLoS One. 2023. PMID: 37252915 Free PMC article.

8

Psychiatric Disorders and lncRNAs: A Synaptic Match.

Rusconi F, Battaglioli E, Venturin M. Rusconi F, et al. Among authors: venturin m. Int J Mol Sci. 2020 Apr 25;21(9):3030. doi: 10.3390/ijms21093030. Int J Mol Sci. 2020. PMID: 32344798 Free PMC article. Review.

9

Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.

Venturin M, Moncini S, Villa V, Russo S, Bonati MT, Larizza L, Riva P. Venturin M, et al. Neurogenetics. 2006 Mar;7(1):59-66. doi: 10.1007/s10048-005-0026-9. Epub 2006 Jan 20. Neurogenetics. 2006. PMID: 16425041 Free article.

10

PURPL and NEAT1 Long Non-Coding RNAs Are Modulated in Vascular Smooth Muscle Cell Replicative Senescence.

Rossi C, Venturin M, Gubala J, Frasca A, Corsini A, Battaglia C, Bellosta S. Rossi C, et al. Among authors: venturin m. Biomedicines. 2023 Dec 6;11(12):3228. doi: 10.3390/biomedicines11123228. Biomedicines. 2023. PMID: 38137449 Free PMC article.

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