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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: salviati l. 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 Free PMC article.
Novel mutations in the L1CAM gene support the complexity of L1 syndrome.
Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML. Bertolin C, et al. Among authors: salviati l. J Neurol Sci. 2010 Jul 15;294(1-2):124-6. doi: 10.1016/j.jns.2010.03.030. Epub 2010 May 5. J Neurol Sci. 2010. PMID: 20447653
FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome.
Cassina M, Rigon C, Casarin A, Vicenzi V, Salviati L, Clementi M. Cassina M, et al. Among authors: salviati l. Am J Med Genet A. 2015 Jun;167(6):1418-20. doi: 10.1002/ajmg.a.37033. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900767 No abstract available.
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Southgate L, Sukalo M, Karountzos ASV, Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, Tolmie JL, Joss S, Brancati F, Digilio MC, Graul-Neumann LM, Salviati L, Coerdt W, Jacquemin E, Wuyts W, Zenker M, Machado RD, Trembath RC. Southgate L, et al. Among authors: salviati l. Circ Cardiovasc Genet. 2015 Aug;8(4):572-581. doi: 10.1161/CIRCGENETICS.115.001086. Epub 2015 May 11. Circ Cardiovasc Genet. 2015. PMID: 25963545 Free PMC article.
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O. Vetro A, et al. Among authors: salviati l. Eur J Hum Genet. 2017 May;25(5):646-650. doi: 10.1038/ejhg.2017.5. Epub 2017 Feb 15. Eur J Hum Genet. 2017. PMID: 28198391 Free PMC article.
Craniosynostosis is a feature of CHD7-related CHARGE syndrome.
De Luca C, Picone S, Cassina M, Marziali S, Morlino S, Camerota L, Tamburrini G, Castori M, Paolillo P, Salviati L, Brancati F. De Luca C, et al. Among authors: salviati l. Am J Med Genet A. 2021 Jul;185(7):2160-2163. doi: 10.1002/ajmg.a.62208. Epub 2021 Apr 12. Am J Med Genet A. 2021. PMID: 33844462
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?
Forzan M, Salviati L, Pertegato V, Casarin A, Bruson A, Trevisson E, Di Gianantonio E, Clementi M. Forzan M, et al. Among authors: salviati l. J Hum Genet. 2010 Jan;55(1):23-6. doi: 10.1038/jhg.2009.115. Epub 2009 Nov 6. J Hum Genet. 2010. PMID: 19893581
199 results