Guerrini R - Search Results

1

Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length.

Iadarola B, Xumerle L, Lavezzari D, Paterno M, Marcolungo L, Beltrami C, Fortunati E, Mei D, Vetro A, Guerrini R, Parrini E, Rossato M, Delledonne M. Iadarola B, et al. Among authors: guerrini r. Sci Rep. 2020 Jun 10;10(1):9424. doi: 10.1038/s41598-020-66331-z. Sci Rep. 2020. PMID: 32523024 Free PMC article.

2

Subcortical band heterotopia with simplified gyral pattern and syndactyly.

Sicca F, Silengo M, Parrini E, Ferrero GB, Guerrini R. Sicca F, et al. Among authors: guerrini r. Am J Med Genet A. 2003 Jun 1;119A(2):207-10. doi: 10.1002/ajmg.a.20111. Am J Med Genet A. 2003. PMID: 12749065

3

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.

Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R. Bonanni P, et al. Among authors: guerrini r. Epilepsia. 2004 Feb;45(2):149-58. doi: 10.1111/j.0013-9580.2004.04303.x. Epilepsia. 2004. PMID: 14738422 Free article.

4

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

Parrini E, Mei D, Wright M, Dorn T, Guerrini R. Parrini E, et al. Among authors: guerrini r. Neurogenetics. 2004 Sep;5(3):191-6. doi: 10.1007/s10048-004-0187-y. Epub 2004 Jul 28. Neurogenetics. 2004. PMID: 15459826

5

Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy.

Marini C, Mei D, Helen Cross J, Guerrini R. Marini C, et al. Among authors: guerrini r. Epilepsia. 2006 Oct;47(10):1737-40. doi: 10.1111/j.1528-1167.2006.00675.x. Epilepsia. 2006. PMID: 17054697 Free article.

6

Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia.

Mei D, Parrini E, Pasqualetti M, Tortorella G, Franzoni E, Giussani U, Marini C, Migliarini S, Guerrini R. Mei D, et al. Among authors: guerrini r. Neurology. 2007 Feb 6;68(6):446-50. doi: 10.1212/01.wnl.0000252945.75668.5d. Neurology. 2007. PMID: 17283321

7

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R. Marini C, et al. Among authors: guerrini r. Epilepsia. 2007 Sep;48(9):1678-1685. doi: 10.1111/j.1528-1167.2007.01122.x. Epub 2007 Jun 11. Epilepsia. 2007. PMID: 17561957 Free article.

8

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.

Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R. Mei D, et al. Among authors: guerrini r. J Med Genet. 2008 Jun;45(6):355-61. doi: 10.1136/jmg.2007.056507. Epub 2008 Feb 19. J Med Genet. 2008. PMID: 18285425

9

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.

Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R. Parrini E, et al. Among authors: guerrini r. Epilepsia. 2009 Jun;50(6):1344-53. doi: 10.1111/j.1528-1167.2008.01787.x. Epub 2008 Oct 6. Epilepsia. 2009. PMID: 19016831 Free PMC article.

10

Neuronal migration disorders.

Guerrini R, Parrini E. Guerrini R, et al. Neurobiol Dis. 2010 May;38(2):154-66. doi: 10.1016/j.nbd.2009.02.008. Epub 2009 Feb 23. Neurobiol Dis. 2010. PMID: 19245832 Review.

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