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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators; Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A. Spitali P, et al. Among authors: bohringer s. Eur J Hum Genet. 2020 Jun;28(6):815-825. doi: 10.1038/s41431-019-0563-6. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896777 Free PMC article.
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.
van den Bergen JC, Hiller M, Böhringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmüller H, Muntoni F, Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren JJ, 't Hoen PA, Spitali P. van den Bergen JC, et al. Among authors: bohringer s. J Neurol Neurosurg Psychiatry. 2015 Oct;86(10):1060-5. doi: 10.1136/jnnp-2014-308409. Epub 2014 Dec 4. J Neurol Neurosurg Psychiatry. 2015. PMID: 25476005 Free PMC article.
Genetic variants in the region of the C1q genes are associated with rheumatoid arthritis.
Trouw LA, Daha N, Kurreeman FA, Böhringer S, Goulielmos GN, Westra HJ, Zhernakova A, Franke L, Stahl EA, Levarht EW, Stoeken-Rijsbergen G, Verduijn W, Roos A, Li Y, Houwing-Duistermaat JJ, Huizinga TW, Toes RE. Trouw LA, et al. Among authors: bohringer s. Clin Exp Immunol. 2013 Jul;173(1):76-83. doi: 10.1111/cei.12097. Clin Exp Immunol. 2013. PMID: 23607884 Free PMC article.
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Teber OA, et al. Among authors: bohringer s. Eur J Hum Genet. 2004 Nov;12(11):879-90. doi: 10.1038/sj.ejhg.5201260. Eur J Hum Genet. 2004. PMID: 15340364
Literature-based genetic risk scores for coronary heart disease: the Cardiovascular Registry Maastricht (CAREMA) prospective cohort study.
Vaarhorst AA, Lu Y, Heijmans BT, Dollé ME, Böhringer S, Putter H, Imholz S, Merry AH, van Greevenbroek MM, Jukema JW, Gorgels AP, van den Brandt PA, Müller M, Schouten LJ, Feskens EJ, Boer JM, Slagboom PE. Vaarhorst AA, et al. Among authors: bohringer s. Circ Cardiovasc Genet. 2012 Apr 1;5(2):202-9. doi: 10.1161/CIRCGENETICS.111.960708. Epub 2012 Feb 28. Circ Cardiovasc Genet. 2012. PMID: 22373668
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
Deelen J, Beekman M, Uh HW, Broer L, Ayers KL, Tan Q, Kamatani Y, Bennet AM, Tamm R, Trompet S, Guðbjartsson DF, Flachsbart F, Rose G, Viktorin A, Fischer K, Nygaard M, Cordell HJ, Crocco P, van den Akker EB, Böhringer S, Helmer Q, Nelson CP, Saunders GI, Alver M, Andersen-Ranberg K, Breen ME, van der Breggen R, Caliebe A, Capri M, Cevenini E, Collerton JC, Dato S, Davies K, Ford I, Gampe J, Garagnani P, de Geus EJ, Harrow J, van Heemst D, Heijmans BT, Heinsen FA, Hottenga JJ, Hofman A, Jeune B, Jonsson PV, Lathrop M, Lechner D, Martin-Ruiz C, Mcnerlan SE, Mihailov E, Montesanto A, Mooijaart SP, Murphy A, Nohr EA, Paternoster L, Postmus I, Rivadeneira F, Ross OA, Salvioli S, Sattar N, Schreiber S, Stefánsson H, Stott DJ, Tiemeier H, Uitterlinden AG, Westendorp RG, Willemsen G, Samani NJ, Galan P, Sørensen TI, Boomsma DI, Jukema JW, Rea IM, Passarino G, de Craen AJ, Christensen K, Nebel A, Stefánsson K, Metspalu A, Magnusson P, Blanché H, Christiansen L, Kirkwood TB, van Duijn CM, Franceschi C, Houwing-Duistermaat JJ, Slagboom PE. Deelen J, et al. Among authors: bohringer s. Hum Mol Genet. 2014 Aug 15;23(16):4420-32. doi: 10.1093/hmg/ddu139. Epub 2014 Mar 31. Hum Mol Genet. 2014. PMID: 24688116 Free PMC article.
Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.
Draisma HHM, Pool R, Kobl M, Jansen R, Petersen AK, Vaarhorst AAM, Yet I, Haller T, Demirkan A, Esko T, Zhu G, Böhringer S, Beekman M, van Klinken JB, Römisch-Margl W, Prehn C, Adamski J, de Craen AJM, van Leeuwen EM, Amin N, Dharuri H, Westra HJ, Franke L, de Geus EJC, Hottenga JJ, Willemsen G, Henders AK, Montgomery GW, Nyholt DR, Whitfield JB, Penninx BW, Spector TD, Metspalu A, Slagboom PE, van Dijk KW, 't Hoen PAC, Strauch K, Martin NG, van Ommen GB, Illig T, Bell JT, Mangino M, Suhre K, McCarthy MI, Gieger C, Isaacs A, van Duijn CM, Boomsma DI. Draisma HHM, et al. Among authors: bohringer s. Nat Commun. 2015 Jun 12;6:7208. doi: 10.1038/ncomms8208. Nat Commun. 2015. PMID: 26068415 Free PMC article.
Genetic variants determining survival and fertility in an adverse African environment: a population-based large-scale candidate gene association study.
Koopman JJ, Pijpe J, Böhringer S, van Bodegom D, Eriksson UK, Sanchez-Faddeev H, Ziem JB, Zwaan B, Slagboom PE, de Knijff P, Westendorp RG. Koopman JJ, et al. Among authors: bohringer s. Aging (Albany NY). 2016 Jul;8(7):1364-83. doi: 10.18632/aging.100986. Aging (Albany NY). 2016. PMID: 27356285 Free PMC article.
Quantification of Facial Traits.
Böhringer S, de Jong MA. Böhringer S, et al. Front Genet. 2019 May 24;10:397. doi: 10.3389/fgene.2019.00397. eCollection 2019. Front Genet. 2019. PMID: 31178890 Free PMC article. Review.
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