Guerrini R - Search Results

1

Bilateral cavitations of ganglionic eminence: a fetal MR imaging sign of halted brain development.

Righini A, Frassoni C, Inverardi F, Parazzini C, Mei D, Doneda C, Re TJ, Zucca I, Guerrini R, Spreafico R, Triulzi F. Righini A, et al. Among authors: guerrini r. AJNR Am J Neuroradiol. 2013 Sep;34(9):1841-5. doi: 10.3174/ajnr.A3508. Epub 2013 Apr 18. AJNR Am J Neuroradiol. 2013. PMID: 23598830 Free PMC article.

2

Bilateral perisylvian polymicrogyria in three generations.

Borgatti R, Triulzi F, Zucca C, Piccinelli P, Balottin U, Carrozzo R, Guerrini R. Borgatti R, et al. Among authors: guerrini r. Neurology. 1999 Jun 10;52(9):1910-3. doi: 10.1212/wnl.52.9.1910. Neurology. 1999. PMID: 10371547

3

Syndromes of bilateral symmetrical polymicrogyria.

Barkovich AJ, Hevner R, Guerrini R. Barkovich AJ, et al. Among authors: guerrini r. AJNR Am J Neuroradiol. 1999 Nov-Dec;20(10):1814-21. AJNR Am J Neuroradiol. 1999. PMID: 10588102 Free PMC article.

4

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.

Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R. Sicca F, et al. Among authors: guerrini r. Neurology. 2003 Oct 28;61(8):1042-6. doi: 10.1212/wnl.61.8.1042. Neurology. 2003. PMID: 14581661

5

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

6

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

7

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini R. Marini C, et al. Among authors: guerrini r. Neurology. 2010 Aug 17;75(7):646-53. doi: 10.1212/WNL.0b013e3181ed9e67. Neurology. 2010. PMID: 20713952

8

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.

Conti V, Marini C, Mei D, Falchi M, Ferrari AR, Guerrini R. Conti V, et al. Among authors: guerrini r. Am J Med Genet A. 2011 Jan;155A(1):164-7. doi: 10.1002/ajmg.a.33753. Epub 2010 Dec 10. Am J Med Genet A. 2011. PMID: 21204226

9

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

Parrini E, Rivas IL, Toral JF, Pucatti D, Giglio S, Mei D, Guerrini R. Parrini E, et al. Among authors: guerrini r. Am J Med Genet A. 2011 May;155A(5):1140-6. doi: 10.1002/ajmg.a.33880. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484998

10

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.

Guerrini R, Mei D, Cordelli DM, Pucatti D, Franzoni E, Parrini E. Guerrini R, et al. Eur J Hum Genet. 2012 Sep;20(9):995-8. doi: 10.1038/ejhg.2012.21. Epub 2012 Feb 15. Eur J Hum Genet. 2012. PMID: 22333901 Free PMC article.

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