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Items: 1 to 20 of 382

1.

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder.

Cruceanu C, Ambalavanan A, Spiegelman D, Gauthier J, Lafrenière RG, Dion PA, Alda M, Turecki G, Rouleau GA.

Genome. 2013 Oct;56(10):634-40. doi: 10.1139/gen-2013-0081. Epub 2013 Sep 17.

2.

Exome Sequencing of Familial Bipolar Disorder.

Goes FS, Pirooznia M, Parla JS, Kramer M, Ghiban E, Mavruk S, Chen YC, Monson ET, Willour VL, Karchin R, Flickinger M, Locke AE, Levy SE, Scott LJ, Boehnke M, Stahl E, Moran JL, Hultman CM, Landén M, Purcell SM, Sklar P, Zandi PP, McCombie WR, Potash JB.

JAMA Psychiatry. 2016 Jun 1;73(6):590-7. doi: 10.1001/jamapsychiatry.2016.0251.

3.

Rare deleterious mutations are associated with disease in bipolar disorder families.

Rao AR, Yourshaw M, Christensen B, Nelson SF, Kerner B.

Mol Psychiatry. 2017 Jul;22(7):1009-1014. doi: 10.1038/mp.2016.181. Epub 2016 Oct 11.

4.

Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder.

Song J, Bergen SE, Di Florio A, Karlsson R, Charney A, Ruderfer DM, Stahl EA; Members of the International Cohort Collection for Bipolar Disorder (ICCBD), Chambert KD, Moran JL, Gordon-Smith K, Forty L, Green EK, Jones I, Jones L, Scolnick EM, Sklar P, Smoller JW, Lichtenstein P, Hultman C, Craddock N, Landén M, Smoller JW, Perlis RH, Lee PH, Castro VM, Hoffnagle AG, Sklar P, Stahl EA, Purcell SM, Ruderfer DM, Charney AW, Roussos P, Michele Pato CP, Medeiros H, Sobel J, Craddock N, Jones I, Forty L, Florio AD, Green E, Jones L, Gordon-Smith K, Landen M, Hultman C, Jureus A, Bergen S, McCarroll S, Moran J, Smoller JW, Chambert K, Belliveau RA.

Mol Psychiatry. 2016 Sep;21(9):1290-7. doi: 10.1038/mp.2015.165. Epub 2015 Oct 27. Erratum in: Mol Psychiatry. 2017 Aug;22(8):1223.

5.

Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families.

Timms AE, Dorschner MO, Wechsler J, Choi KY, Kirkwood R, Girirajan S, Baker C, Eichler EE, Korvatska O, Roche KW, Horwitz MS, Tsuang DW.

JAMA Psychiatry. 2013 Jun;70(6):582-90. doi: 10.1001/jamapsychiatry.2013.1195.

PMID:
23553203
6.

Genomic view of bipolar disorder revealed by whole genome sequencing in a genetic isolate.

Georgi B, Craig D, Kember RL, Liu W, Lindquist I, Nasser S, Brown C, Egeland JA, Paul SM, Bućan M.

PLoS Genet. 2014 Mar 13;10(3):e1004229. doi: 10.1371/journal.pgen.1004229. eCollection 2014 Mar.

7.

Insulin-like growth factor 1 (IGF-1) expression is up-regulated in lymphoblastoid cell lines of lithium responsive bipolar disorder patients.

Squassina A, Costa M, Congiu D, Manchia M, Angius A, Deiana V, Ardau R, Chillotti C, Severino G, Calza S, Del Zompo M.

Pharmacol Res. 2013 Jul;73:1-7. doi: 10.1016/j.phrs.2013.04.004. Epub 2013 Apr 22.

8.

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team.

Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15.

9.

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.

Yan J, Takahashi T, Ohura T, Adachi H, Takahashi I, Ogawa E, Okuda H, Kobayashi H, Hitomi T, Liu W, Harada KH, Koizumi A.

J Hum Genet. 2013 Jun;58(6):366-77. doi: 10.1038/jhg.2013.20. Epub 2013 Mar 28.

PMID:
23535966
10.

Rare variants in neuronal excitability genes influence risk for bipolar disorder.

Ament SA, Szelinger S, Glusman G, Ashworth J, Hou L, Akula N, Shekhtman T, Badner JA, Brunkow ME, Mauldin DE, Stittrich AB, Rouleau K, Detera-Wadleigh SD, Nurnberger JI Jr, Edenberg HJ, Gershon ES, Schork N; Bipolar Genome Study, Price ND, Gelinas R, Hood L, Craig D, McMahon FJ, Kelsoe JR, Roach JC.

Proc Natl Acad Sci U S A. 2015 Mar 17;112(11):3576-81. doi: 10.1073/pnas.1424958112. Epub 2015 Feb 17.

11.

Replication of genome-wide association study (GWAS) susceptibility loci in a Latino bipolar disorder cohort.

Gonzalez S, Gupta J, Villa E, Mallawaarachchi I, Rodriguez M, Ramirez M, Zavala J, Armas R, Dassori A, Contreras J, Flores D, Jerez A, Ontiveros A, Nicolini H, Escamilla M.

Bipolar Disord. 2016 Sep;18(6):520-527. doi: 10.1111/bdi.12438.

12.

Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorder.

Squassina A, Manchia M, Borg J, Congiu D, Costa M, Georgitsi M, Chillotti C, Ardau R, Mitropoulos K, Severino G, Del Zompo M, Patrinos GP.

Pharmacogenomics. 2011 Nov;12(11):1559-69. doi: 10.2217/pgs.11.102. Epub 2011 Oct 3.

PMID:
21961650
13.

Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors.

Cruceanu C, Schmouth JF, Torres-Platas SG, Lopez JP, Ambalavanan A, Darcq E, Gross F, Breton B, Spiegelman D, Rochefort D, Hince P, Petite JM, Gauthier J, Lafrenière RG, Dion PA, Greenwood CM, Kieffer BL, Alda M, Turecki G, Rouleau GA.

Mol Psychiatry. 2017 Nov 21. doi: 10.1038/mp.2017.223. [Epub ahead of print]

PMID:
29158579
14.

Family studies to find rare high risk variants in migraine.

Hansen RD, Christensen AF, Olesen J.

J Headache Pain. 2017 Dec;18(1):32. doi: 10.1186/s10194-017-0729-y. Epub 2017 Mar 2. Review.

15.

Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene.

Dyment DA, Cader MZ, Chao MJ, Lincoln MR, Morrison KM, Disanto G, Morahan JM, De Luca GC, Sadovnick AD, Lepage P, Montpetit A, Ebers GC, Ramagopalan SV.

Neurology. 2012 Jul 31;79(5):406-11. doi: 10.1212/WNL.0b013e3182616fc4. Epub 2012 Jun 27.

16.

Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder.

Lescai F, Als TD, Li Q, Nyegaard M, Andorsdottir G, Biskopstø M, Hedemand A, Fiorentino A, O'Brien N, Jarram A, Liang J, Grove J, Pallesen J, Eickhardt E, Mattheisen M, Bolund L, Demontis D, Wang AG, McQuillin A, Mors O, Wang J, Børglum AD.

Transl Psychiatry. 2017 Feb 14;7(2):e1034. doi: 10.1038/tp.2017.3.

17.

Whole exome sequencing for familial bicuspid aortic valve identifies putative variants.

Martin LJ, Pilipenko V, Kaufman KM, Cripe L, Kottyan LC, Keddache M, Dexheimer P, Weirauch MT, Benson DW.

Circ Cardiovasc Genet. 2014 Oct;7(5):677-83. doi: 10.1161/CIRCGENETICS.114.000526. Epub 2014 Aug 1.

18.

Mapping susceptibility genes for bipolar disorder: a pharmacogenetic approach based on excellent response to lithium.

Turecki G, Grof P, Grof E, D'Souza V, Lebuis L, Marineau C, Cavazzoni P, Duffy A, Bétard C, Zvolský P, Robertson C, Brewer C, Hudson TJ, Rouleau GA, Alda M.

Mol Psychiatry. 2001 Sep;6(5):570-8.

19.

Strategies to identify genes for complex disorders: a focus on bipolar disorder and chromosome 16p.

Byerley W, Badner JA.

Psychiatr Genet. 2011 Aug;21(4):173-82. doi: 10.1097/YPG.0b013e32833a21e3. Review.

PMID:
20453718
20.

Whole Exome Sequencing Identifies Rare Protein-Coding Variants in Behçet's Disease.

Ognenovski M, Renauer P, Gensterblum E, Kötter I, Xenitidis T, Henes JC, Casali B, Salvarani C, Direskeneli H, Kaufman KM, Sawalha AH.

Arthritis Rheumatol. 2016 May;68(5):1272-80. doi: 10.1002/art.39545.

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