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Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
van de Beek I, Glykofridis IE, Tanck MWT, Luijten MNH, Starink TM, Balk JA, Johannesma PC, Hennekam E, van den Hoff MJB, Gunst QD, Gille JJP, Polstra AM, Postmus PE, van Steensel MAM, Postma AV, Wolthuis RMF, Menko FH, Houweling AC, Waisfisz Q. van de Beek I, et al. Among authors: hennekam e. J Hum Genet. 2023 Apr;68(4):273-279. doi: 10.1038/s10038-022-01113-1. Epub 2023 Jan 4. J Hum Genet. 2023. PMID: 36599954
Mutations in WNT10A are present in more than half of isolated hypodontia cases.
van den Boogaard MJ, Créton M, Bronkhorst Y, van der Hout A, Hennekam E, Lindhout D, Cune M, Ploos van Amstel HK. van den Boogaard MJ, et al. Among authors: hennekam e. J Med Genet. 2012 May;49(5):327-31. doi: 10.1136/jmedgenet-2012-100750. J Med Genet. 2012. PMID: 22581971 Free article.
The Dutch Uniform Multicenter Registration system for genetic disorders and malformation syndromes.
Zwamborn-Hanssen AM, Bijlsma JB, Hennekam EF, Lindhout D, Beemer FA, Bakker E, Kleijer WJ, de France HF, de Die-Smulders CE, Duran M, van Gennip AH, van Mens JT, Pearson PL, Mantel G, Verhage RE, Geraedts JP. Zwamborn-Hanssen AM, et al. Among authors: hennekam ef. Am J Med Genet. 1997 Jun 27;70(4):444-7. doi: 10.1002/(sici)1096-8628(19970627)70:4<444::aid-ajmg20>3.0.co;2-g. Am J Med Genet. 1997. PMID: 9182789
Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.
Kelich J, Aramburu T, van der Vis JJ, Showe L, Kossenkov A, van der Smagt J, Massink M, Schoemaker A, Hennekam E, Veltkamp M, van Moorsel CHM, Skordalakes E. Kelich J, et al. Among authors: hennekam e. J Exp Med. 2022 May 2;219(5):e20211681. doi: 10.1084/jem.20211681. Epub 2022 Apr 14. J Exp Med. 2022. PMID: 35420632 Free PMC article.
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
de Haan A, van Eerde AM, Eijgelsheim M, Rump P, van der Zwaag B, Hennekam E, Živná M, Kmoch S, Bleyer AJ, Kidd K, Vogt L, Knoers NVAM, de Borst MH. de Haan A, et al. Among authors: hennekam e. Kidney Int. 2023 May;103(5):986-989. doi: 10.1016/j.kint.2023.02.021. Epub 2023 Mar 22. Kidney Int. 2023. PMID: 37085259 Free article. No abstract available.
Mortality Risk Associated With Truncating Founder Mutations in Titin.
Jansen M, Baas AF, van Spaendonck-Zwarts KY, Ummels AS, van den Wijngaard A, Jongbloed JDH, van Slegtenhorst MA, Lekanne Deprez RH, Wessels MW, Michels M, Houweling AC, Hoorntje ET, Helderman-van den Enden PJTM, Barge-Schaapveld DQCM, Peter van Tintelen J, van den Berg MP, Wilde AAM, Ploos van Amstel HK, Hennekam EAM, Asselbergs FW, Sijbrands EJG, Dooijes D. Jansen M, et al. Among authors: hennekam eam. Circ Genom Precis Med. 2019 May;12(5):e002436. doi: 10.1161/CIRCGEN.118.002436. Circ Genom Precis Med. 2019. PMID: 31112426
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Hoorntje ET, van Spaendonck-Zwarts KY, Te Rijdt WP, Boven L, Vink A, van der Smagt JJ, Asselbergs FW, van Wijngaarden J, Hennekam EA, Pinto YM, Lekanne Deprez RH, Barge-Schaapveld DQCM, Bootsma M, Regieli J, Hoedemaekers YM, Jongbloed JDH, van den Berg MP, van Tintelen JP. Hoorntje ET, et al. Among authors: hennekam ea. Eur J Heart Fail. 2018 Apr;20(4):803-806. doi: 10.1002/ejhf.1030. Epub 2017 Oct 23. Eur J Heart Fail. 2018. PMID: 29057560 Free PMC article. No abstract available.
25 results