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MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Marsili L, van Lint FHM, Russo F, van Spaendonck-Zwarts KY, Ader F, Bichon ML, Faivre L, Houweling AC, Isidor B, Lekanne Deprez RH, Cox MGPJ, Wilde AAM, Mazel B, Mercier S, Dooijes D, Millat G, Nguyen K, Post JG, Richard P, van de Beek I, Vermeer AMC, Boven L, Jongbloed JDH, van Tintelen JP; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart. Marsili L, et al. Among authors: dooijes d. Neth Heart J. 2023 Aug;31(7-8):300-307. doi: 10.1007/s12471-023-01798-9. Epub 2023 Jul 24. Neth Heart J. 2023. PMID: 37488328 Free PMC article.
Recombination hotspot in NF1 microdeletion patients.
López-Correa C, Dorschner M, Brems H, Lázaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E. López-Correa C, et al. Among authors: dooijes d. Hum Mol Genet. 2001 Jun 15;10(13):1387-92. doi: 10.1093/hmg/10.13.1387. Hum Mol Genet. 2001. PMID: 11440991
Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.
Feberwee HE, Feenstra I, Oberoi S, Sama IE, Ockeloen CW, Clum F, Slavotinek A, Kuijpers MA, Dooijes D, Kuijpers-Jagtman AM, Kleefstra T, Carels CE. Feberwee HE, et al. Among authors: dooijes d. Clin Genet. 2014 Feb;85(2):194-7. doi: 10.1111/cge.12125. Epub 2013 Apr 5. Clin Genet. 2014. PMID: 23557072 No abstract available.
[From gene to disease; neurofibromatosis type 1].
de Goede-Bolder A, Cnossen MH, Dooijes D, van den Ouweland AM, Niermeijer MF. de Goede-Bolder A, et al. Among authors: dooijes d. Ned Tijdschr Geneeskd. 2001 Sep 8;145(36):1736-8. Ned Tijdschr Geneeskd. 2001. PMID: 11572174 Review. Dutch.
133 results