Guerrini R - Search Results

1

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation.

Pramparo T, de Gregori M, Gimelli S, Ciccone R, Frondizi D, Liehr T, Pellacani S, Masi G, Brovedani P, Zuffardi O, Guerrini R. Pramparo T, et al. Among authors: guerrini r. Am J Med Genet A. 2008 Jul 1;146A(13):1754-60. doi: 10.1002/ajmg.a.32326. Am J Med Genet A. 2008. PMID: 18546282

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

Autosomal dominant cortical myoclonus and epilepsy (ADCME) with linkage to chromosome 2p11.1-q12.2.

Guerrini R, Parmeggiani L, Marini C, Brovedani P, Bonanni P. Guerrini R, et al. Adv Neurol. 2005;95:273-9. Adv Neurol. 2005. PMID: 15508930 No abstract available.

4

Reciprocal translocations: a trap for cytogenetists?

Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia MC, Priolo E, Laganà C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E. Ciccone R, et al. Among authors: guerrini r. Hum Genet. 2005 Oct;117(6):571-82. doi: 10.1007/s00439-005-1324-x. Epub 2005 Jul 23. Hum Genet. 2005. PMID: 16041583

5

Nonconvulsive status epilepticus precipitated by carbamazepine presenting as dissociative and affective disorders in adolescents.

Marini C, Parmeggiani L, Masi G, D'Arcangelo G, Guerrini R. Marini C, et al. Among authors: guerrini r. J Child Neurol. 2005 Aug;20(8):693-6. doi: 10.1177/08830738050200081201. J Child Neurol. 2005. PMID: 16225818

6

Periventricular heterotopia in fragile X syndrome.

Moro F, Pisano T, Bernardina BD, Polli R, Murgia A, Zoccante L, Darra F, Battaglia A, Pramparo T, Zuffardi O, Guerrini R. Moro F, et al. Among authors: guerrini r. Neurology. 2006 Aug 22;67(4):713-5. doi: 10.1212/01.wnl.0000230223.51595.99. Neurology. 2006. PMID: 16924033

7

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

Torniero C, dalla Bernardina B, Novara F, Vetro A, Ricca I, Darra F, Pramparo T, Guerrini R, Zuffardi O. Torniero C, et al. Among authors: guerrini r. Eur J Hum Genet. 2007 Jan;15(1):62-7. doi: 10.1038/sj.ejhg.5201730. Epub 2006 Oct 31. Eur J Hum Genet. 2007. PMID: 17075606

8

Neuropsychological findings in idiopathic occipital lobe epilepsies.

Chilosi AM, Brovedani P, Moscatelli M, Bonanni P, Guerrini R. Chilosi AM, et al. Among authors: guerrini r. Epilepsia. 2006;47 Suppl 2:76-8. doi: 10.1111/j.1528-1167.2006.00696.x. Epilepsia. 2006. PMID: 17105468 Free article.

9

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: guerrini r. J Med Genet. 2008 Jun;45(6):346-54. doi: 10.1136/jmg.2007.055830. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178631

10

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: guerrini r. 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

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