Rimoldi V - Search Results

1

Multiple facial angiofibromas: A manifestation of Frank-ter Haar syndrome?

Borroni RG, Piscazzi F, Valenti M, Rimoldi V, Barile M, Bianchi P, Favaro R, Formai A, Selicorni A, Manara S, Vinci V, Lania AG, Costanzo A. Borroni RG, et al. Among authors: rimoldi v. Am J Med Genet A. 2023 Aug;191(8):2249-2251. doi: 10.1002/ajmg.a.63231. Epub 2023 May 4. Am J Med Genet A. 2023. PMID: 37141407 No abstract available.

2

The nitroxide tempol induces oxidative stress, p21(WAF1/CIP1), and cell death in HL60 cells.

Gariboldi MB, Rimoldi V, Supino R, Favini E, Monti E. Gariboldi MB, et al. Among authors: rimoldi v. Free Radic Biol Med. 2000 Oct 1;29(7):633-41. doi: 10.1016/s0891-5849(00)00347-6. Free Radic Biol Med. 2000. PMID: 11033415

3

Mapping the human genetic architecture of COVID-19.

COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.

4

Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.

Asselta R, Rimoldi V, Guella I, Soldà G, De Cristofaro R, Peyvandi F, Duga S. Asselta R, et al. Among authors: rimoldi v. Blood. 2010 Mar 11;115(10):2065-72. doi: 10.1182/blood-2009-09-245092. Epub 2009 Dec 30. Blood. 2010. PMID: 20042724 Free article.

5

Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript.

Rimoldi V, Soldà G, Asselta R, Spena S, Stuani C, Buratti E, Duga S. Rimoldi V, et al. PLoS One. 2013;8(3):e59333. doi: 10.1371/journal.pone.0059333. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533617 Free PMC article.

6

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene.

Guella I, Pistocchi A, Asselta R, Rimoldi V, Ghilardi A, Sironi F, Trotta L, Primignani P, Zini M, Zecchinelli A, Coviello D, Pezzoli G, Del Giacco L, Duga S, Goldwurm S. Guella I, et al. Among authors: rimoldi v. Neurobiol Aging. 2011 Nov;32(11):1994-2005. doi: 10.1016/j.neurobiolaging.2009.12.016. Epub 2010 Jan 8. Neurobiol Aging. 2011. PMID: 20060621

7

A second update on mapping the human genetic architecture of COVID-19.

COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2023 Sep;621(7977):E7-E26. doi: 10.1038/s41586-023-06355-3. Epub 2023 Sep 6. Nature. 2023. PMID: 37674002 Free PMC article. No abstract available.

8

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features.

Straniero L, Rimoldi V, Soldà G, Bellini M, Biasucci G, Asselta R, Duga S. Straniero L, et al. Among authors: rimoldi v. Front Genet. 2018 Oct 10;9:464. doi: 10.3389/fgene.2018.00464. eCollection 2018. Front Genet. 2018. PMID: 30364145 Free PMC article.

9

Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.

Cogliati F, Straniero L, Rimoldi V, Masciadri M, Perego S, Rinaldi B, Milani D, Gentilini D, Larizza L, Asselta R, Russo S, Bedeschi MF. Cogliati F, et al. Among authors: rimoldi v. Am J Med Genet B Neuropsychiatr Genet. 2024 Sep;195(6):e32976. doi: 10.1002/ajmg.b.32976. Epub 2024 Feb 22. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38385826

10

Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.

Straniero L, Rimoldi V, Soldà G, Mauri L, Manfredini E, Andreucci E, Bargiacchi S, Penco S, Gesu GP, Del Longo A, Piozzi E, Asselta R, Primignani P. Straniero L, et al. Among authors: rimoldi v. J Hum Genet. 2015 Sep;60(9):467-71. doi: 10.1038/jhg.2015.56. Epub 2015 May 28. J Hum Genet. 2015. PMID: 26016411

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