Guerrini R - Search Results

1

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.

Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB. Paciorkowski AR, et al. Among authors: guerrini r. Eur J Hum Genet. 2011 Dec;19(12):1238-45. doi: 10.1038/ejhg.2011.121. Epub 2011 Jun 22. Eur J Hum Genet. 2011. PMID: 21694734 Free PMC article.

2

Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.

Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. Ross ME, et al. Among authors: guerrini r. Hum Mol Genet. 1997 Apr;6(4):555-62. doi: 10.1093/hmg/6.4.555. Hum Mol Genet. 1997. PMID: 9097958

3

Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.

Fink JM, Dobyns WB, Guerrini R, Hirsch BA. Fink JM, et al. Among authors: guerrini r. Am J Hum Genet. 1997 Aug;61(2):379-87. doi: 10.1086/514863. Am J Hum Genet. 1997. PMID: 9311743 Free PMC article.

4

Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation.

Guerrini R, Dobyns WB. Guerrini R, et al. Neurology. 1998 Aug;51(2):499-503. doi: 10.1212/wnl.51.2.499. Neurology. 1998. PMID: 9710025

5

Epilepsy and malformations of the cerebral cortex.

Guerrini R, Canapicchi R, Dobyns WB. Guerrini R, et al. Neurologia. 1999 May;14 Suppl 3:32-47. Neurologia. 1999. PMID: 10379165 Review.

6

Cortical dysplasias, genetics, and epileptogenesis.

Guerrini R, Andermann E, Avoli M, Dobyns WB. Guerrini R, et al. Adv Neurol. 1999;79:95-121. Adv Neurol. 1999. PMID: 10514808 Review. No abstract available.

7

Genetic and neuroradiological heterogeneity of double cortex syndrome.

Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA. Gleeson JG, et al. Among authors: guerrini r. Ann Neurol. 2000 Feb;47(2):265-9. Ann Neurol. 2000. PMID: 10665503

8

Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome.

Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB. Guerrini R, et al. Neurology. 2000 Feb 22;54(4):909-13. doi: 10.1212/wnl.54.4.909. Neurology. 2000. PMID: 10690985

9

Classification system for malformations of cortical development: update 2001.

Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. Barkovich AJ, et al. Among authors: guerrini r. Neurology. 2001 Dec 26;57(12):2168-78. doi: 10.1212/wnl.57.12.2168. Neurology. 2001. PMID: 11785496

10

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.

Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L. Philip N, et al. Among authors: guerrini r. J Med Genet. 2003 Jun;40(6):441-6. doi: 10.1136/jmg.40.6.441. J Med Genet. 2003. PMID: 12807966 Free PMC article. No abstract available.

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