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Results: 16

Related Articles by Review for PubMed (Select 21882292)

1.

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

Kariminejad R, Lind-Thomsen A, Tümer Z, Erdogan F, Ropers HH, Tommerup N, Ullmann R, Møller RS.

Hum Mutat. 2011 Dec;32(12):1427-35. doi: 10.1002/humu.21585. Epub 2011 Sep 23.

PMID:
21882292
2.

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F.

Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Review.

PMID:
22083797
3.

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.

Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC.

Neurology. 2013 Oct 22;81(17):1507-14. doi: 10.1212/WNL.0b013e3182a95829. Epub 2013 Sep 25. Review. Erratum in: Neurology. 2013 Dec 10;81(24):2148. Trucks, Holger [added]; Lal, Dennis [added]; Sander, Thoman [added].

4.

Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.

Hochstenbach R, Buizer-Voskamp JE, Vorstman JA, Ophoff RA.

Cytogenet Genome Res. 2011;135(3-4):174-202. doi: 10.1159/000332928. Epub 2011 Nov 2. Review.

PMID:
22056632
5.
6.

Genetic malformations of the cerebral cortex and epilepsy.

Guerrini R.

Epilepsia. 2005;46 Suppl 1:32-7. Review.

PMID:
15816977
7.

[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].

Bahi-Buisson N, Boddaert N, Saillour Y, Souville I, Poirier K, Léger PL, Castelnau L, Plouin P, Carion N, Beldjord C, Chelly J.

Rev Neurol (Paris). 2008 Dec;164(12):995-1009. doi: 10.1016/j.neurol.2008.04.006. Epub 2008 Jun 9. Review. French.

PMID:
18808783
8.

Distribution of disease-associated copy number variants across distinct disorders of cognitive development.

Pescosolido MF, Gamsiz ED, Nagpal S, Morrow EM.

J Am Acad Child Adolesc Psychiatry. 2013 Apr;52(4):414-430.e14. doi: 10.1016/j.jaac.2013.01.003. Review.

9.

[Autism spectrum disorder and genes for synaptic proteins].

Shishido E.

Brain Nerve. 2012 Jan;64(1):65-70. Review. Japanese.

PMID:
22223503
10.

Lissencephaly and the molecular basis of neuronal migration.

Kato M, Dobyns WB.

Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R89-96. Review.

11.

Role of copy number variants in structural birth defects.

Southard AE, Edelmann LJ, Gelb BD.

Pediatrics. 2012 Apr;129(4):755-63. doi: 10.1542/peds.2011-2337. Epub 2012 Mar 19. Review.

12.

Copy number variants in pharmacogenetic genes.

He Y, Hoskins JM, McLeod HL.

Trends Mol Med. 2011 May;17(5):244-51. doi: 10.1016/j.molmed.2011.01.007. Epub 2011 Mar 8. Review.

13.

Genetic architecture of reciprocal CNVs.

Golzio C, Katsanis N.

Curr Opin Genet Dev. 2013 Jun;23(3):240-8. doi: 10.1016/j.gde.2013.04.013. Epub 2013 Jun 5. Review.

14.

Recent advances in the genetic etiology of brain malformations.

Dyment DA, Sawyer SL, Chardon JW, Boycott KM.

Curr Neurol Neurosci Rep. 2013 Aug;13(8):364. doi: 10.1007/s11910-013-0364-1. Review.

PMID:
23793931
15.

Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

Romaniello R, Arrigoni F, Bassi MT, Borgatti R.

Brain Dev. 2015 Mar;37(3):273-80. doi: 10.1016/j.braindev.2014.06.002. Epub 2014 Jul 5. Review.

PMID:
25008804
16.

Exploring the role of copy number variants in human adaptation.

Iskow RC, Gokcumen O, Lee C.

Trends Genet. 2012 Jun;28(6):245-57. doi: 10.1016/j.tig.2012.03.002. Epub 2012 Apr 5. Review.

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