Mei D - Search Results

1

Morquio B disease: From pathophysiology towards diagnosis.

Caciotti A, Cellai L, Tonin R, Mei D, Procopio E, Di Rocco M, Andaloro A, Antuzzi D, Rampazzo A, Rigoldi M, Forni G, la Marca G, Guerrini R, Morrone A. Caciotti A, et al. Among authors: mei d. Mol Genet Metab. 2021 Mar;132(3):180-188. doi: 10.1016/j.ymgme.2021.01.008. Epub 2021 Feb 1. Mol Genet Metab. 2021. PMID: 33558080

2

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

3

Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation.

Pisano T, Marini C, Brovedani P, Brizzolara D, Pruna D, Mei D, Moro F, Cianchetti C, Guerrini R. Pisano T, et al. Among authors: mei d. Epilepsia. 2005 Jan;46(1):118-23. doi: 10.1111/j.0013-9580.2005.26304.x. Epilepsia. 2005. PMID: 15660777 Free article.

4

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: mei d. Epilepsia. 2006 Oct;47(10):1737-40. doi: 10.1111/j.1528-1167.2006.00675.x. Epilepsia. 2006. PMID: 17054697 Free article.

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. 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. 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

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Among authors: mei d. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.

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. 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

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: mei d. 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

10

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.

Guerrini R, Cellini E, Mei D, Metitieri T, Petrelli C, Pucatti D, Marini C, Zamponi N. Guerrini R, et al. Among authors: mei d. Epilepsia. 2010 Dec;51(12):2474-7. doi: 10.1111/j.1528-1167.2010.02790.x. Epub 2010 Nov 18. Epilepsia. 2010. PMID: 21204810 Free article.

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