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Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.
Pippucci T, Panza E, Pompilii E, Donadio V, Borreca A, Babalini C, Patrono C, Zuntini R, Kawarai T, Bernardi G, Liguori R, Romeo G, Montagna P, Orlacchio A, Seri M. Pippucci T, et al. Among authors: romeo g. Eur J Neurol. 2009 Jan;16(1):121-6. doi: 10.1111/j.1468-1331.2008.02367.x. Eur J Neurol. 2009. PMID: 19087158
EX-HOM (EXome HOMozygosity): a proof of principle.
Pippucci T, Benelli M, Magi A, Martelli PL, Magini P, Torricelli F, Casadio R, Seri M, Romeo G. Pippucci T, et al. Among authors: romeo g. Hum Hered. 2011;72(1):45-53. doi: 10.1159/000330164. Epub 2011 Aug 18. Hum Hered. 2011. PMID: 21849793
Linkage analysis in families with recurrent neuroblastoma.
Perri P, Longo L, McConville C, Cusano R, Rees SA, Seri M, Conte M, Romeo G, Devoto M, Tonini GP. Perri P, et al. Among authors: romeo g. Ann N Y Acad Sci. 2002 Jun;963:74-84. doi: 10.1111/j.1749-6632.2002.tb04097.x. Ann N Y Acad Sci. 2002. PMID: 12095931
Reply to ten Kate et al.
Gialluisi A, Pippucci T, Romeo G. Gialluisi A, et al. Among authors: romeo g. Eur J Hum Genet. 2014 Feb;22(2):157-8. doi: 10.1038/ejhg.2013.153. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860043 Free PMC article. No abstract available.
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.
Panza E, Gimelli G, Passalacqua M, Cohen A, Gimelli S, Giglio S, Ghezzi C, Sparatore B, Heye B, Zuffardi O, Rugarli E, Meitinger T, Romeo G, Ravazzolo R, Seri M. Panza E, et al. Among authors: romeo g. Int J Mol Med. 2007 Mar;19(3):429-35. Int J Mol Med. 2007. PMID: 17273791
1,002 results