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Similar articles for PubMed (Select 19843651)

1.

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.

de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T.

Brain. 2010 Jan;133(Pt 1):23-32. doi: 10.1093/brain/awp262. Epub 2009 Oct 20.

2.

Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.

Jähn JA, von Spiczak S, Muhle H, Obermeier T, Franke A, Mefford HC, Stephani U, Helbig I.

Epilepsy Res. 2014 Jan;108(1):109-16. doi: 10.1016/j.eplepsyres.2013.10.001. Epub 2013 Oct 26.

PMID:
24246141
3.

[Submicroscopic chromosomal changes predispose to generalised epilepsy].

Møller R, Hjalgrim H.

Ugeskr Laeger. 2011 Apr 18;173(16-17):1201-4. Danish.

PMID:
21501562
4.

15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria.

Kirov A, Dimova P, Todorova A, Mefford H, Todorov T, Saraylieva G, Bojinova V, Mitev V, Helbig I.

Epilepsy Res. 2013 May;104(3):241-5. doi: 10.1016/j.eplepsyres.2012.10.013. Epub 2013 Jan 23.

PMID:
23352738
5.

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.

Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T.

Nat Genet. 2009 Feb;41(2):160-2. doi: 10.1038/ng.292. Epub 2009 Jan 11.

6.

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.

Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF.

Hum Mol Genet. 2009 Oct 1;18(19):3626-31. doi: 10.1093/hmg/ddp311. Epub 2009 Jul 10.

7.

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].

8.

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome.

Muhle H, Mefford HC, Obermeier T, von Spiczak S, Eichler EE, Stephani U, Sander T, Helbig I.

Epilepsia. 2011 Dec;52(12):e194-8. doi: 10.1111/j.1528-1167.2011.03301.x. Epub 2011 Nov 2.

9.

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA.

Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16.

PMID:
24939913
10.

Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes.

Mulley JC, Scheffer IE, Desai T, Bayly MA, Grinton BE, Vears DF, Berkovic SF, Dibbens LM.

Epilepsia. 2011 Oct;52(10):e139-42. doi: 10.1111/j.1528-1167.2011.03188.x. Epub 2011 Jul 21.

PMID:
21777232
11.

Recurrent 16p11.2 microdeletions in autism.

Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB, Christian SL.

Hum Mol Genet. 2008 Feb 15;17(4):628-38. Epub 2007 Dec 21.

12.

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.

Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium; EPICURE Consortium.

Epilepsia. 2013 Feb;54(2):265-71. doi: 10.1111/epi.12084. Epub 2013 Jan 25.

PMID:
23350840
13.

The unexpected role of copy number variations in juvenile myoclonic epilepsy.

Helbig I, Hartmann C, Mefford HC.

Epilepsy Behav. 2013 Jul;28 Suppl 1:S66-8. doi: 10.1016/j.yebeh.2012.07.005. Review.

PMID:
23756484
14.

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.

Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE.

PLoS Genet. 2010 May 20;6(5):e1000962. doi: 10.1371/journal.pgen.1000962.

15.

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.

Stewart LR, Hall AL, Kang SH, Shaw CA, Beaudet AL.

BMC Med Genet. 2011 Nov 25;12:154. doi: 10.1186/1471-2350-12-154.

16.

Epilepsy and the new cytogenetics.

Mulley JC, Mefford HC.

Epilepsia. 2011 Mar;52(3):423-32. doi: 10.1111/j.1528-1167.2010.02932.x. Epub 2011 Jan 26. Review.

17.

Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion.

Coppola A, Bagnasco I, Traverso M, Brusco A, Di Gregorio E, Del Gaudio L, Santulli L, Caccavale C, Vigliano P, Minetti C, Striano S, Zara F, Striano P.

Epilepsia. 2013 May;54(5):e69-73. doi: 10.1111/epi.12130. Epub 2013 Feb 28.

PMID:
23448223
18.

Exploration of a putative susceptibility locus for idiopathic generalized epilepsy on chromosome 8p12.

Sander T, Windemuth C, Schulz H, Saar K, Gennaro E, Riggio C, Bianchi A, Zara F, Rudolf G, Picard F, Bulteau C, Kaminska A, Cieuta C, Prud'homme JF, Dulac O, Bate L, Robinson R, Gardiner RM, Covanis A, de Haan GJ, Janssen GA, van Erp MG, Boezeman EH, Lindhout D, Heils A, Nürnberg P, Janz D; European Consortium on the Genetics of Idiopathic Generalized Epilepsy.

Epilepsia. 2003 Jan;44(1):32-9.

PMID:
12581227
19.

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR.

J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11.

20.

Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits.

Lee CC, Chou IC, Tsai CH, Wan L, Shu YA, Tsai Y, Li TC, Tsai FJ.

J Clin Lab Anal. 2007;21(2):67-70.

PMID:
17385675
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