Guerrini R - Search Results

1

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

2

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

3

Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R. Moro F, et al. Among authors: guerrini r. Neurology. 2002 Mar 26;58(6):916-21. doi: 10.1212/wnl.58.6.916. Neurology. 2002. PMID: 11914408

4

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

5

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.

Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Dubeau F, Andermann F, Dobyns WB, Das S. Guerrini R, et al. Ann Neurol. 2003 Jul;54(1):30-7. doi: 10.1002/ana.10588. Ann Neurol. 2003. PMID: 12838518

6

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

7

Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes.

Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG. Leeflang EP, et al. Among authors: guerrini r. J Med Genet. 2003 Dec;40(12):e128. doi: 10.1136/jmg.40.12.e128. J Med Genet. 2003. PMID: 14684696 Free PMC article. No abstract available.

8

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB. Kato M, et al. Among authors: guerrini r. Hum Mutat. 2004 Feb;23(2):147-159. doi: 10.1002/humu.10310. Hum Mutat. 2004. PMID: 14722918

9

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.

10

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.

Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Krämer G, Moro F, Dobyns WB, Parrini E. Guerrini R, et al. Neurology. 2004 Jul 13;63(1):51-6. doi: 10.1212/01.wnl.0000132818.84827.4d. Neurology. 2004. PMID: 15249610

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