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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
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. van Bokhoven H, et al. Among authors: sangiorgi e. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17. Am J Hum Genet. 2001. PMID: 11462173 Free PMC article.
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
53 results