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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 1
2007 1
2009 2
2010 1
2011 3
2012 5
2013 6
2014 9
2015 5
2016 11
2017 10
2018 10
2019 14
2020 9
2021 5
2022 6
2023 4
2024 2

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91 results

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Page 1
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M. Fortugno P, et al. Among authors: ritelli m. Eur J Hum Genet. 2023 May;31(5):596-601. doi: 10.1038/s41431-022-01279-4. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599937
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. Cells. 2022 Dec 14;11(24):4040. doi: 10.3390/cells11244040. Cells. 2022. PMID: 36552803 Free PMC article.
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: ritelli m. 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.
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota L, Ritelli M, Wischmeijer A, Majore S, Cinquina V, Fortugno P, Monetta R, Gigante L, Marfan Syndrome Study Group Tor Vergata University Hospital, Sangiuolo FC, Novelli G, Colombi M, Brancati F. Camerota L, et al. Among authors: ritelli m. Genes (Basel). 2019 Sep 28;10(10):764. doi: 10.3390/genes10100764. Genes (Basel). 2019. PMID: 31569402 Free PMC article. Review.
COL6A5 variants in familial neuropathic chronic itch.
Martinelli-Boneschi F, Colombi M, Castori M, Devigili G, Eleopra R, Malik RA, Ritelli M, Zoppi N, Dordoni C, Sorosina M, Grammatico P, Fadavi H, Gerrits MM, Almomani R, Faber CG, Merkies IS, Toniolo D; INGI Network; Cocca M, Doglioni C, Waxman SG, Dib-Hajj SD, Taiana MM, Sassone J, Lombardi R, Cazzato D, Zauli A, Santoro S, Marchi M, Lauria G. Martinelli-Boneschi F, et al. Among authors: ritelli m. Brain. 2017 Mar 1;140(3):555-567. doi: 10.1093/brain/aww343. Brain. 2017. PMID: 28073787
91 results