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Items: 1 to 20 of 35

1.

Missing heritability of complex diseases: Enlightenment by genetic variants from intermediate phenotypes.

Blanco-Gómez A, Castillo-Lluva S, Del Mar Sáez-Freire M, Hontecillas-Prieto L, Mao JH, Castellanos-Martín A, Pérez-Losada J.

Bioessays. 2016 Jul;38(7):664-73. doi: 10.1002/bies.201600084. Epub 2016 May 31.

PMID:
27241833
2.

Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.

Wight JE, Nguyen VH, Medina MT, Patterson C, Durón RM, Molina Y, Lin YC, Martínez-Juárez IE, Ochoa A, Jara-Prado A, Tanaka M, Bai D, Aftab S, Bailey JN, Delgado-Escueta AV.

Mol Genet Genomic Med. 2016 Jan 23;4(2):197-210. doi: 10.1002/mgg3.195. eCollection 2016 Mar.

3.

Sex-specific behavioral traits in the Brd2 mouse model of juvenile myoclonic epilepsy.

Chachua T, Goletiani C, Maglakelidze G, Sidyelyeva G, Daniel M, Morris E, Miller J, Shang E, Wolgemuth DJ, Greenberg DA, Velíšková J, Velíšek L.

Genes Brain Behav. 2014 Sep;13(7):702-12. doi: 10.1111/gbb.12160. Epub 2014 Aug 28.

4.

Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.

Guerrini R, Marini C, Mantegazza M.

Neurotherapeutics. 2014 Apr;11(2):269-85. doi: 10.1007/s13311-014-0267-0. Review.

5.

Genetics of inherited human epilepsies.

Gourfinkel-An I, Baulac S, Brice A, Leguern E, Baulac M.

Dialogues Clin Neurosci. 2001 Mar;3(1):47-57.

6.

Toward a modern search for schizophrenia genes.

Leboyer M.

Dialogues Clin Neurosci. 2001 Jun;3(2):99-108.

7.

GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy.

Velíšek L, Shang E, Velíšková J, Chachua T, Macchiarulo S, Maglakelidze G, Wolgemuth DJ, Greenberg DA.

PLoS One. 2011;6(8):e23656. doi: 10.1371/journal.pone.0023656. Epub 2011 Aug 24.

8.

The bromodomain-containing gene BRD2 is regulated at transcription, splicing, and translation levels.

Shang E, Cui Q, Wang X, Beseler C, Greenberg DA, Wolgemuth DJ.

J Cell Biochem. 2011 Oct;112(10):2784-93. doi: 10.1002/jcb.23192.

9.

Double bromodomain-containing gene Brd2 is essential for embryonic development in mouse.

Shang E, Wang X, Wen D, Greenberg DA, Wolgemuth DJ.

Dev Dyn. 2009 Apr;238(4):908-17. doi: 10.1002/dvdy.21911.

10.

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy.

Kinirons P, Rabinowitz D, Gravel M, Long J, Winawer M, Sénéchal G, Ottman R, Cossette P.

Epilepsy Res. 2008 Nov;82(1):21-28. doi: 10.1016/j.eplepsyres.2008.06.011. Epub 2008 Aug 23.

11.

Evaluating candidate genes in common epilepsies and the nature of evidence.

Pal DK, Strug LJ, Greenberg DA.

Epilepsia. 2008 Mar;49(3):386-92. Epub 2007 Nov 19. Review.

12.

The state of the art in the genetic analysis of the epilepsies.

Greenberg DA, Pal DK.

Curr Neurol Neurosci Rep. 2007 Jul;7(4):320-8. Review.

13.

Advances in genetics of juvenile myoclonic epilepsies.

Delgado-Escueta AV.

Epilepsy Curr. 2007 May-Jun;7(3):61-7.

14.

Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy.

Pal DK, Durner M, Klotz I, Dicker E, Shinnar S, Resor S, Cohen J, Harden C, Moshé SL, Ballaban-Gill K, Bromfield EB, Greenberg DA.

Brain Dev. 2006 Mar;28(2):92-8. Epub 2006 Jan 18.

15.

Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy.

Greenberg DA, Cayanis E, Strug L, Marathe S, Durner M, Pal DK, Alvin GB, Klotz I, Dicker E, Shinnar S, Bromfield EB, Resor S, Cohen J, Moshe SL, Harden C, Kang H.

Am J Hum Genet. 2005 Jan;76(1):139-46. Epub 2004 Nov 5.

16.

Susceptibility Gene for Juvenile Myoclonic Epilepsy Rings True.

Wallace R.

Epilepsy Curr. 2004 Jan;4(1):9-10. No abstract available.

17.

BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy.

Pal DK, Evgrafov OV, Tabares P, Zhang F, Durner M, Greenberg DA.

Am J Hum Genet. 2003 Aug;73(2):261-70. Epub 2003 Jun 25.

18.

Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.

Winawer MR, Martinelli Boneschi F, Barker-Cummings C, Lee JH, Liu J, Mekios C, Gilliam TC, Pedley TA, Hauser WA, Ottman R.

Epilepsia. 2002 Jan;43(1):60-7.

19.

Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy.

Greenberg DA, Durner M, Keddache M, Shinnar S, Resor SR, Moshe SL, Rosenbaum D, Cohen J, Harden C, Kang H, Wallace S, Luciano D, Ballaban-Gil K, Tomasini L, Zhou G, Klotz I, Dicker E.

Am J Hum Genet. 2000 Feb;66(2):508-16.

20.

Genetics of childhood epilepsy.

Robinson R, Gardiner M.

Arch Dis Child. 2000 Feb;82(2):121-5. Review. No abstract available.

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