Guerrini R - Search Results

1

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

2

Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.

Pirola B, Bortotto L, Giglio S, Piovan E, Janes A, Guerrini R, Zuffardi O. Pirola B, et al. Among authors: guerrini r. J Med Genet. 1998 Dec;35(12):1031-3. doi: 10.1136/jmg.35.12.1031. J Med Genet. 1998. PMID: 9863602 Free PMC article.

3

Epilepsy and genetic malformations of the cerebral cortex.

Guerrini R, Carrozzo R. Guerrini R, et al. Am J Med Genet. 2001 Summer;106(2):160-73. doi: 10.1002/ajmg.1569. Am J Med Genet. 2001. PMID: 11579436 Review.

4

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

5

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

6

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

7

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

8

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.

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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