Parrini E - Search Results

1

Deciphering the premature mortality in PIGA-CDG - An untold story.

Bayat A, Kløvgaard M, Johannesen KM, Barakat TS, Kievit A, Montomoli M, Parrini E, Pietrafusa N, Schelhaas J, van Slegtenhorst M, Miya K, Guerrini R, Tranebjærg L, Tümer Z, Rubboli G, Møller RS. Bayat A, et al. Among authors: parrini e. Epilepsy Res. 2021 Feb;170:106530. doi: 10.1016/j.eplepsyres.2020.106530. Epub 2020 Dec 9. Epilepsy Res. 2021. PMID: 33508693 Review.

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: parrini e. 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

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. Neurogenetics. 2004 Sep;5(3):191-6. doi: 10.1007/s10048-004-0187-y. Epub 2004 Jul 28. Neurogenetics. 2004. PMID: 15459826

4

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: parrini e. 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

5

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

Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R. Parrini E, et al. 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.

6

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Cardoso C, et al. Among authors: parrini e. Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10. Neurology. 2009. PMID: 19073947

7

Neuronal migration disorders.

Guerrini R, Parrini E. Guerrini R, et al. Among authors: parrini e. 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.

8

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R. Mei D, et al. Among authors: parrini e. Epilepsia. 2010 Apr;51(4):647-54. doi: 10.1111/j.1528-1167.2009.02308.x. Epub 2009 Sep 22. Epilepsia. 2010. PMID: 19780792 Free article.

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. 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. Among authors: parrini e. 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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