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A split hand-split foot (SHFM3) gene is located at 10q24-->25.
Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P. Gurrieri F, et al. Among authors: sangiorgi e. Am J Med Genet. 1996 Apr 24;62(4):427-36. doi: 10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723077
Rearrangements of chromosome 15 in epilepsy.
Torrisi L, Sangiorgi E, Russo L, Gurrieri F. Torrisi L, et al. Among authors: sangiorgi e. Am J Med Genet. 2001 Summer;106(2):125-8. doi: 10.1002/ajmg.1570. Am J Med Genet. 2001. PMID: 11579432
Limb anomalies: Developmental and evolutionary aspects.
Gurrieri F, Kjaer KW, Sangiorgi E, Neri G. Gurrieri F, et al. Among authors: sangiorgi e. Am J Med Genet. 2002 Dec 30;115(4):231-44. doi: 10.1002/ajmg.10981. Am J Med Genet. 2002. PMID: 12503118 Review.
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE. de Mollerat XJ, et al. Among authors: sangiorgi e. Hum Mol Genet. 2003 Aug 15;12(16):1959-71. doi: 10.1093/hmg/ddg212. Hum Mol Genet. 2003. PMID: 12913067
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.
Milillo A, La Carpia F, Costanzi S, D'Urbano V, Martini M, Lanuti P, Vischini G, Larocca LM, Marchisio M, Miscia S, Amoroso A, Gurrieri F, Sangiorgi E. Milillo A, et al. Among authors: sangiorgi e. Eur J Hum Genet. 2015 Dec;23(12):1673-8. doi: 10.1038/ejhg.2015.52. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782674 Free PMC article.
DNA Methylation in the Diagnosis of Monogenic Diseases.
Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. Cerrato F, et al. Among authors: sangiorgi e. Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355. Genes (Basel). 2020. PMID: 32224912 Free PMC article. Review.
53 results