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Page 1
Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
Georges A, Albuisson J, Berrandou T, Dupré D, Lorthioir A, D'Escamard V, Di Narzo AF, Kadian-Dodov D, Olin JW, Warchol-Celinska E, Prejbisz A, Januszewicz A, Bruneval P, Baranowska AA, Webb TR, Hamby SE, Samani NJ, Adlam D, Fendrikova-Mahlay N, Hazen S, Wang Y, Yang ML, Hunker K, Combaret N, Motreff P, Chédid A, Fiquet B, Plouin PF, Mousseaux E, Azarine A, Amar L, Azizi M, Gornik HL, Ganesh SK, Kovacic JC, Jeunemaitre X, Bouatia-Naji N. Georges A, et al. Among authors: ganesh sk. Cardiovasc Res. 2021 Mar 21;117(4):1154-1165. doi: 10.1093/cvr/cvaa161. Cardiovasc Res. 2021. PMID: 32531060 Free PMC article.
Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features.
Ganesh SK, Morissette R, Xu Z, Schoenhoff F, Griswold BF, Yang J, Tong L, Yang ML, Hunker K, Sloper L, Kuo S, Raza R, Milewicz DM, Francomano CA, Dietz HC, Van Eyk J, McDonnell NB. Ganesh SK, et al. FASEB J. 2014 Aug;28(8):3313-24. doi: 10.1096/fj.14-251207. Epub 2014 Apr 14. FASEB J. 2014. PMID: 24732132 Free PMC article.
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.
Kiando SR, Tucker NR, Castro-Vega LJ, Katz A, D'Escamard V, Tréard C, Fraher D, Albuisson J, Kadian-Dodov D, Ye Z, Austin E, Yang ML, Hunker K, Barlassina C, Cusi D, Galan P, Empana JP, Jouven X, Gimenez-Roqueplo AP, Bruneval P, Hyun Kim ES, Olin JW, Gornik HL, Azizi M, Plouin PF, Ellinor PT, Kullo IJ, Milan DJ, Ganesh SK, Boutouyrie P, Kovacic JC, Jeunemaitre X, Bouatia-Naji N. Kiando SR, et al. Among authors: ganesh sk. PLoS Genet. 2016 Oct 28;12(10):e1006367. doi: 10.1371/journal.pgen.1006367. eCollection 2016 Oct. PLoS Genet. 2016. PMID: 27792790 Free PMC article.
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.
Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BBA, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Gornik HL, Ganesh SK, Braverman AC, Grange DK, Milewicz DM. Guo DC, et al. Among authors: ganesh sk. Am J Hum Genet. 2017 Jan 5;100(1):21-30. doi: 10.1016/j.ajhg.2016.11.008. Epub 2016 Dec 8. Am J Hum Genet. 2017. PMID: 27939641 Free PMC article.
First international consensus on the diagnosis and management of fibromuscular dysplasia.
Gornik HL, Persu A, Adlam D, Aparicio LS, Azizi M, Boulanger M, Bruno RM, De Leeuw P, Fendrikova-Mahlay N, Froehlich J, Ganesh SK, Gray BH, Jamison C, Januszewicz A, Jeunemaitre X, Kadian-Dodov D, Kim ESH, Kovacic JC, Mace P, Morganti A, Sharma A, Southerland AM, Touzé E, Van der Niepen P, Wang J, Weinberg I, Wilson S, Olin JW, Plouin PF; Working Group ‘Hypertension and the Kidney’ of the European Society of Hypertension (ESH) and the Society for Vascular Medicine (SVM). Gornik HL, et al. Among authors: ganesh sk. J Hypertens. 2019 Feb;37(2):229-252. doi: 10.1097/HJH.0000000000002019. J Hypertens. 2019. PMID: 30640867
First International Consensus on the diagnosis and management of fibromuscular dysplasia.
Gornik HL, Persu A, Adlam D, Aparicio LS, Azizi M, Boulanger M, Bruno RM, de Leeuw P, Fendrikova-Mahlay N, Froehlich J, Ganesh SK, Gray BH, Jamison C, Januszewicz A, Jeunemaitre X, Kadian-Dodov D, Kim ES, Kovacic JC, Mace P, Morganti A, Sharma A, Southerland AM, Touzé E, van der Niepen P, Wang J, Weinberg I, Wilson S, Olin JW, Plouin PF. Gornik HL, et al. Among authors: ganesh sk. Vasc Med. 2019 Apr;24(2):164-189. doi: 10.1177/1358863X18821816. Epub 2019 Jan 16. Vasc Med. 2019. PMID: 30648921 Review.
Canadian spontaneous coronary artery dissection cohort study: in-hospital and 30-day outcomes.
Saw J, Starovoytov A, Humphries K, Sheth T, So D, Minhas K, Brass N, Lavoie A, Bishop H, Lavi S, Pearce C, Renner S, Madan M, Welsh RC, Lutchmedial S, Vijayaraghavan R, Aymong E, Har B, Ibrahim R, Gornik HL, Ganesh S, Buller C, Matteau A, Martucci G, Ko D, Mancini GBJ. Saw J, et al. Eur Heart J. 2019 Apr 14;40(15):1188-1197. doi: 10.1093/eurheartj/ehz007. Eur Heart J. 2019. PMID: 30698711 Free PMC article.
The in vivo endothelial cell translatome is highly heterogeneous across vascular beds.
Cleuren ACA, van der Ent MA, Jiang H, Hunker KL, Yee A, Siemieniak DR, Molema G, Aird WC, Ganesh SK, Ginsburg D. Cleuren ACA, et al. Among authors: ganesh sk. Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23618-23624. doi: 10.1073/pnas.1912409116. Epub 2019 Nov 11. Proc Natl Acad Sci U S A. 2019. PMID: 31712416 Free PMC article.
Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction.
Saw J, Yang ML, Trinder M, Tcheandjieu C, Xu C, Starovoytov A, Birt I, Mathis MR, Hunker KL, Schmidt EM, Jackson L, Fendrikova-Mahlay N, Zawistowski M, Brummett CM, Zoellner S, Katz A, Coleman DM, Swan K, O'Donnell CJ; Million Veteran Program; Zhou X, Li JZ, Gornik HL, Assimes TL, Stanley JC, Brunham LR, Ganesh SK. Saw J, et al. Among authors: ganesh sk. Nat Commun. 2020 Sep 4;11(1):4432. doi: 10.1038/s41467-020-17558-x. Nat Commun. 2020. PMID: 32887874 Free PMC article.
A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.
Richer J, Hill HL, Wang Y, Yang ML, Hunker KL, Lane J, Blackburn S, Coleman DM, Eliason J, Sillon G, D'Agostino MD, Jetty P, Mongeon FP, Laberge AM, Ryan SE, Fendrikova-Mahlay N, Coutinho T, Mathis MR, Zawistowski M, Hazen SL, Katz AE, Gornik HL, Brummett CM, Abecasis G, Bergin IL, Stanley JC, Li JZ, Ganesh SK. Richer J, et al. Among authors: ganesh sk. Arterioscler Thromb Vasc Biol. 2020 Nov;40(11):2686-2699. doi: 10.1161/ATVBAHA.119.313885. Epub 2020 Sep 17. Arterioscler Thromb Vasc Biol. 2020. PMID: 32938213 Free PMC article.
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