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Page 1
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L. Carmignac V, et al. Among authors: grasso m. Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25. Am J Hum Genet. 2012. PMID: 23103230 Free PMC article.
The FBN1 (R2726W) mutation is not fully penetrant.
Buoni S, Zannolli R, Macucci F, Ansaldi S, Grasso M, Arbustini E, Fois A. Buoni S, et al. Among authors: grasso m. Ann Hum Genet. 2004 Nov;68(Pt 6):633-8. doi: 10.1046/j.1529-8817.2004.00113.x. Ann Hum Genet. 2004. PMID: 15598221
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, Disabella E, Marziliano N, Pisani A, Lanzarini L, Mannarino S, Larizza D, Mosconi M, Antoniazzi E, Zoia MC, Meloni G, Magrassi L, Brega A, Bedeschi MF, Torrente I, Mari F, Tavazzi L. Arbustini E, et al. Among authors: grasso m. Hum Mutat. 2005 Nov;26(5):494. doi: 10.1002/humu.9377. Hum Mutat. 2005. PMID: 16222657
Gene symbol: SCN5A. Disease: Brugada syndrome.
Arbustini E, Scaffino MF, Diegoli M, Maziliano N, Grasso M, Pasotti M, Baraldi P, Zennaro RG. Arbustini E, et al. Among authors: grasso m. Hum Genet. 2005 Dec;118(3-4):536. Hum Genet. 2005. PMID: 16521247 No abstract available.
Gene symbol: KCNQ1. Disease: LQT1.
Arbustini E, Diegoli M, Pasotti M, Grasso M, Marziliano N, Marini M, Zeni P, Disertori M. Arbustini E, et al. Among authors: grasso m. Hum Genet. 2006 Jul;119(6):682. Hum Genet. 2006. PMID: 17128491 No abstract available.
Gene symbol: LMNA.
Arbustini EA, Pasotti M, Pilotto A, Grasso M, Porcu E, Tocco G, Marziliano N. Arbustini EA, et al. Among authors: grasso m. Hum Genet. 2007 Feb;120(6):907-8. Hum Genet. 2007. PMID: 17438593 No abstract available.
Gene symbol: LDB3.
Arbustini E, Rossi ML, Marziliano N, Presbitero P, Pilotto A, Pasotti M, Grasso M. Arbustini E, et al. Among authors: grasso m. Hum Genet. 2007 Feb;120(6):910. Hum Genet. 2007. PMID: 17438604 No abstract available.
Gene symbol: LDB3.
Arbustini E, Rossi ML, Marziliano N, Presbitero P, Pilotto A, Pasotti M, Grasso M. Arbustini E, et al. Among authors: grasso m. Hum Genet. 2007 Feb;120(6):916-7. Hum Genet. 2007. PMID: 17438622 No abstract available.
840 results