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Items: 1 to 20 of 24

1.

Genetic Imbalance in Patients with Cervical Artery Dissection.

Grond-Ginsbach C, Chen B, Krawczak M, Pjontek R, Ginsbach P, Jiang Y, Abboud S, Arnold ML, Bersano A, Brandt T, Caso V, Debette S, Dichgans M, Geschwendtner A, Giacalone G, Martin JJ, Metso AJ, Metso TM, Grau AJ, Kloss M, Lichy C, Pezzini A, Traenka C, Schreiber S, Thijs V, Touzé E, Del Zotto E, Tatlisumak T, Leys D, Lyrer PA, Engelter ST; CADISP group.

Curr Genomics. 2017 Apr;18(2):206-213. doi: 10.2174/1389202917666160805152627.

PMID:
28367076
2.

Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections.

Milewicz DM, Trybus KM, Guo DC, Sweeney HL, Regalado E, Kamm K, Stull JT.

Arterioscler Thromb Vasc Biol. 2017 Jan;37(1):26-34. doi: 10.1161/ATVBAHA.116.303229. Epub 2016 Nov 22. Review. Erratum in: Arterioscler Thromb Vasc Biol. 2017 Feb;37(2):e12.

PMID:
27879251
3.

Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.

Rutkowski TP, Schroeder JP, Gafford GM, Warren ST, Weinshenker D, Caspary T, Mulle JG.

J Neurosci Res. 2017 May;95(5):1144-1160. doi: 10.1002/jnr.23970. Epub 2016 Nov 8. Review.

PMID:
27859486
4.

Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections.

Guo DC, Grove ML, Prakash SK, Eriksson P, Hostetler EM, LeMaire SA, Body SC, Shalhub S, Estrera AL, Safi HJ, Regalado ES, Zhou W, Mathis MR; GenTAC Investigators; BAVCon Investigators, Eagle KA, Yang B, Willer CJ, Boerwinkle E, Milewicz DM.

Am J Hum Genet. 2016 Sep 1;99(3):762-9. doi: 10.1016/j.ajhg.2016.06.034. Epub 2016 Aug 25.

5.

Differentiation defect in neural crest-derived smooth muscle cells in patients with aortopathy associated with bicuspid aortic valves.

Jiao J, Xiong W, Wang L, Yang J, Qiu P, Hirai H, Shao L, Milewicz D, Chen YE, Yang B.

EBioMedicine. 2016 Aug;10:282-90. doi: 10.1016/j.ebiom.2016.06.045. Epub 2016 Jul 1.

6.

Hereditary Influence in Thoracic Aortic Aneurysm and Dissection.

Isselbacher EM, Lino Cardenas CL, Lindsay ME.

Circulation. 2016 Jun 14;133(24):2516-28. doi: 10.1161/CIRCULATIONAHA.116.009762. Review.

7.

Graded effects of unregulated smooth muscle myosin on intestinal architecture, intestinal motility and vascular function in zebrafish.

Abrams J, Einhorn Z, Seiler C, Zong AB, Sweeney HL, Pack M.

Dis Model Mech. 2016 May 1;9(5):529-40. doi: 10.1242/dmm.023309. Epub 2016 Feb 18.

8.

A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium).

Prakash SK, Bossé Y, Muehlschlegel JD, Michelena HI, Limongelli G, Della Corte A, Pluchinotta FR, Russo MG, Evangelista A, Benson DW, Body SC, Milewicz DM; BAVCon Investigators.

J Am Coll Cardiol. 2014 Aug 26;64(8):832-9. doi: 10.1016/j.jacc.2014.04.073. Review.

9.

Overexpression of smooth muscle myosin heavy chain leads to activation of the unfolded protein response and autophagic turnover of thick filament-associated proteins in vascular smooth muscle cells.

Kwartler CS, Chen J, Thakur D, Li S, Baskin K, Wang S, Wang ZV, Walker L, Hill JA, Epstein HF, Taegtmeyer H, Milewicz DM.

J Biol Chem. 2014 May 16;289(20):14075-88. doi: 10.1074/jbc.M113.499277. Epub 2014 Apr 7.

10.

Early recognition of acute thoracic aortic dissection and aneurysm.

Leitman IM, Suzuki K, Wengrofsky AJ, Menashe E, Poplawski M, Woo KM, Geller CM, Lucido D, Bernik T, Zeifer BA, Patton B.

World J Emerg Surg. 2013 Nov 13;8(1):47. doi: 10.1186/1749-7922-8-47.

11.

Ohnologs are overrepresented in pathogenic copy number mutations.

McLysaght A, Makino T, Grayton HM, Tropeano M, Mitchell KJ, Vassos E, Collier DA.

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):361-6. doi: 10.1073/pnas.1309324111. Epub 2013 Dec 24.

12.

Effect of copy number variants on outcomes for infants with single ventricle heart defects.

Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD.

Circ Cardiovasc Genet. 2013 Oct;6(5):444-51. doi: 10.1161/CIRCGENETICS.113.000189. Epub 2013 Sep 10.

13.

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.

Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, Yu CY, Leotta A, Kendall J, Yamrom B, Lee YH, Wigler M, Levy D.

Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25.

14.

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections.

Milewicz DM, Regalado ES, Shendure J, Nickerson DA, Guo DC.

Trends Cardiovasc Med. 2014 Feb;24(2):53-60. doi: 10.1016/j.tcm.2013.06.004. Epub 2013 Aug 15. Review.

15.

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

Tropeano M, Ahn JW, Dobson RJ, Breen G, Rucker J, Dixit A, Pal DK, McGuffin P, Farmer A, White PS, Andrieux J, Vassos E, Ogilvie CM, Curran S, Collier DA.

PLoS One. 2013 Apr 18;8(4):e61365. doi: 10.1371/journal.pone.0061365. Print 2013.

16.

Thoracic aortic dissection: genes, molecules, and the knife.

Choi JC, LeMaire SA.

Tex Heart Inst J. 2012;39(6):838-9. Review. No abstract available.

17.

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.

Wiśniowiecka-Kowalnik B, Kastory-Bronowska M, Bartnik M, Derwińska K, Dymczak-Domini W, Szumbarska D, Ziemka E, Szczałuba K, Sykulski M, Gambin T, Gambin A, Shaw CA, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P.

Eur J Hum Genet. 2013 Jun;21(6):620-5. doi: 10.1038/ejhg.2012.219. Epub 2012 Oct 3.

18.

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.

Harakalova M, van der Smagt J, de Kovel CG, Van't Slot R, Poot M, Nijman IJ, Medic J, Joziasse I, Deckers J, Roos-Hesselink JW, Wessels MW, Baars HF, Weiss MM, Pals G, Golmard L, Jeunemaitre X, Lindhout D, Cuppen E, Baas AF.

Eur J Hum Genet. 2013 May;21(5):487-93. doi: 10.1038/ejhg.2012.206. Epub 2012 Sep 12.

19.

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.

Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW.

Eur J Hum Genet. 2013 Feb;21(2):173-81. doi: 10.1038/ejhg.2012.155. Epub 2012 Aug 29.

20.

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.

Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA.

Eur J Hum Genet. 2013 Apr;21(4):373-80. doi: 10.1038/ejhg.2012.177. Epub 2012 Aug 15.

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