Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

85 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
Lauffer P, Pals G, Zwinderman AH, Postema FAM, Baars MJH, Dulfer E, Hilhorst-Hofstee Y, Houweling AC, Kempers M, Krapels IPC, van de Laar IMBH, Loeys B, Spaans AMJ, Warnink-Kavelaars J, de Waard V, Wit JM, Menke LA. Lauffer P, et al. Among authors: kempers m. Am J Med Genet A. 2023 Feb;191(2):479-489. doi: 10.1002/ajmg.a.63047. Epub 2022 Nov 15. Am J Med Genet A. 2023. PMID: 36380655 Free PMC article.
Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome.
Radonic T, de Witte P, Groenink M, de Bruin-Bon RA, Timmermans J, Scholte AJ, van den Berg MP, Baars MJ, van Tintelen JP, Kempers M, Zwinderman AH, Mulder BJ. Radonic T, et al. Among authors: kempers m. Clin Genet. 2011 Oct;80(4):346-53. doi: 10.1111/j.1399-0004.2011.01646.x. Epub 2011 Mar 31. Clin Genet. 2011. PMID: 21332468
Inflammation aggravates disease severity in Marfan syndrome patients.
Radonic T, de Witte P, Groenink M, de Waard V, Lutter R, van Eijk M, Jansen M, Timmermans J, Kempers M, Scholte AJ, Hilhorst-Hofstee Y, van den Berg MP, van Tintelen JP, Pals G, Baars MJ, Mulder BJ, Zwinderman AH. Radonic T, et al. Among authors: kempers m. PLoS One. 2012;7(3):e32963. doi: 10.1371/journal.pone.0032963. Epub 2012 Mar 30. PLoS One. 2012. PMID: 22479353 Free PMC article.
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL. Lindsay ME, et al. Among authors: kempers mj. Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349. Nat Genet. 2012. PMID: 22772368 Free PMC article.
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ. Sun Y, et al. Among authors: kempers mj. Nat Genet. 2012 Dec;44(12):1375-81. doi: 10.1038/ng.2453. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143598 Free PMC article.
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.
Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL. Bertoli-Avella AM, et al. Among authors: kempers m. J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040. J Am Coll Cardiol. 2015. PMID: 25835445 Free PMC article.
85 results