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Page 1
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Verstraeten A, Perik MHAM, Baranowska AA, Meester JAN, Van Den Heuvel L, Bastianen J, Kempers M, Krapels IPC, Maas A, Rideout A, Vandersteen A, Sobey G, Johnson D, Fransen E, Ghali N, Webb T, Al-Hussaini A, de Leeuw P, Delmotte P, Lopez-Sublet M, Pappaccogli M, Sprynger M, Toubiana L; European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI); Van Laer L, Van Dijk FS, Vikkula M, Samani NJ, Persu A, Adlam D, Loeys B; Collaborators of the European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI). Verstraeten A, et al. Among authors: van dijk fs, van laer l, van den heuvel l. Circulation. 2020 Sep 8;142(10):1021-1024. doi: 10.1161/CIRCULATIONAHA.120.045946. Epub 2020 Sep 8. Circulation. 2020. PMID: 32897753 Free article. No abstract available.
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Nayak SS, Schneeberger PE, Patil SJ, Arun KM, Suresh PV, Kiran VS, Siddaiah S, Maiya S, Venkatachalagupta SK, Kausthubham N, Kortüm F, Rau I, Wey-Fabrizius A, Van Den Heuvel L, Meester J, Van Laer L, Shukla A, Loeys B, Girisha KM, Kutsche K. Nayak SS, et al. Among authors: van laer l, van den heuvel l. Sci Rep. 2021 Jan 12;11(1):764. doi: 10.1038/s41598-020-80755-7. Sci Rep. 2021. PMID: 33436942 Free PMC article.
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Van Gucht I, Meester JAN, Bento JR, Bastiaansen M, Bastianen J, Luyckx I, Van Den Heuvel L, Neutel CHG, Guns PJ, Vermont M, Fransen E, Perik MHAM, Velchev JD, Alaerts M, Schepers D, Peeters S, Pintelon I, Almesned A, Ferla MP, Taylor JC, Dallosso AR, Williams M, Evans J; Genomics England Research Consortium; Rosenfeld JA, Sluysmans T, Rodrigues D, Chikermane A, Bharmappanavara G, Vijayakumar K, Mottaghi Moghaddam Shahri H, Hashemi N, Torbati PN, Toosi MB, Al-Hassnan ZN, Vogt J, Revencu N, Maystadt I, Miller EM, Weaver KN, Begtrup A, Houlden H, Murphy D, Maroofian R, Pagnamenta AT, Van Laer L, Loeys BL, Verstraeten A. Van Gucht I, et al. Among authors: van laer l, van den heuvel l. Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. doi: 10.1016/j.ajhg.2021.04.019. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010605 Free PMC article.
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
Van Gucht I, Krebsova A, Diness BR, Laga S, Adlam D, Kempers M, Samani NJ, Webb TR, Baranowska AA, Van Den Heuvel L, Perik M, Luyckx I, Peeters N, Votypka P, Macek M, Meester J, Van Laer L, Verstraeten A, Loeys BL. Van Gucht I, et al. Among authors: van laer l, van den heuvel l. Int J Mol Sci. 2021 Jul 1;22(13):7111. doi: 10.3390/ijms22137111. Int J Mol Sci. 2021. PMID: 34281165 Free PMC article.
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL. Meester JAN, et al. Among authors: van laer l, van driest sl, van den heuvel l. Genet Med. 2022 May;24(5):1045-1053. doi: 10.1016/j.gim.2021.12.015. Epub 2022 Jan 17. Genet Med. 2022. PMID: 35058154 Free PMC article.
Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts.
Katrinli S, Wani AH, Maihofer AX, Ratanatharathorn A, Daskalakis NP, Montalvo-Ortiz J, Núñez-Ríos DL, Zannas AS, Zhao X, Aiello AE, Ashley-Koch AE, Avetyan D, Baker DG, Beckham JC, Boks MP, Brick LA, Bromet E, Champagne FA, Chen CY, Dalvie S, Dennis MF, Fatumo S, Fortier C, Galea S, Garrett ME, Geuze E, Grant G, Hauser MA, Hayes JP, Hemmings SMJ, Huber BR, Jajoo A, Jansen S, Kessler RC, Kimbrel NA, King AP, Kleinman JE, Koen N, Koenen KC, Kuan PF, Liberzon I, Linnstaedt SD, Lori A, Luft BJ, Luykx JJ, Marx CE, McLean SA, Mehta D, Milberg W, Miller MW, Mufford MS, Musanabaganwa C, Mutabaruka J, Mutesa L, Nemeroff CB, Nugent NR, Orcutt HK, Qin XJ, Rauch SAM, Ressler KJ, Risbrough VB, Rutembesa E, Rutten BPF, Seedat S, Stein DJ, Stein MB, Toikumo S, Ursano RJ, Uwineza A, Verfaellie MH, Vermetten E, Vinkers CH, Ware EB, Wildman DE, Wolf EJ, Young RM, Zhao Y, van den Heuvel LL; PGC-PTSD Epigenetics Workgroup; PsychENCODE PTSD Brainomics Project; Traumatic Stress Brain Research Group; Uddin M, Nievergelt CM, Smith AK, Logue MW. Katrinli S, et al. Among authors: van den heuvel ll. Genome Med. 2024 Dec 18;16(1):147. doi: 10.1186/s13073-024-01417-1. Genome Med. 2024. PMID: 39696436 Free PMC article.
G1 and G2 variants of apolipoprotein L1 among Central African population in Trypanosoma brucei gambiense endemic rural area.
Mupepe DM, Wameso MN, Situakibanza HN, Ekulu PM, Makulo JRR, Kayembe JMN, Nkoy AB, Mvibudulu RZ, Van den Heuvel LP, Levtchenko EN, Karume KL, Bikoumou VA, Buila NB, Longo BM, Mumba DN, M'Buyamba-Kabangu JR. Mupepe DM, et al. Among authors: van den heuvel lp. J Infect Dev Ctries. 2024 Oct 31;18(10):1610-1616. doi: 10.3855/jidc.19495. J Infect Dev Ctries. 2024. PMID: 39616492 Free article.
649 results