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DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.
Rooney K, van der Laan L, Trajkova S, Haghshenas S, Relator R, Lauffer P, Vos N, Levy MA, Brunetti-Pierri N, Terrone G, Mignot C, Keren B, de Villemeur TB, Volker-Touw CML, Verbeek N, van der Smagt JJ, Oegema R, Brusco A, Ferrero GB, Misra-Isrie M, Hochstenbach R, Alders M, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P. Rooney K, et al. Among authors: mannens mmam. Genet Med. 2023 Aug;25(8):100871. doi: 10.1016/j.gim.2023.100871. Epub 2023 Apr 28. Genet Med. 2023. PMID: 37120726 Free article.
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC. Alders M, et al. Nat Genet. 2009 Dec;41(12):1272-4. doi: 10.1038/ng.484. Nat Genet. 2009. PMID: 19935664
Peripheral blood methylation profiling of female Crohn's disease patients.
Li Yim AYF, Duijvis NW, Zhao J, de Jonge WJ, D'Haens GRAM, Mannens MMAM, Mul ANPM, Te Velde AA, Henneman P. Li Yim AYF, et al. Among authors: mannens mmam. Clin Epigenetics. 2016 Jun 8;8:65. doi: 10.1186/s13148-016-0230-5. eCollection 2016. Clin Epigenetics. 2016. PMID: 27279921 Free PMC article.
Genetic Analyses in Small-for-Gestational-Age Newborns.
Stalman SE, Solanky N, Ishida M, Alemán-Charlet C, Abu-Amero S, Alders M, Alvizi L, Baird W, Demetriou C, Henneman P, James C, Knegt LC, Leon LJ, Mannens MMAM, Mul AN, Nibbering NA, Peskett E, Rezwan FI, Ris-Stalpers C, van der Post JAM, Kamp GA, Plötz FB, Wit JM, Stanier P, Moore GE, Hennekam RC. Stalman SE, et al. Among authors: mannens mmam. J Clin Endocrinol Metab. 2018 Mar 1;103(3):917-925. doi: 10.1210/jc.2017-01843. J Clin Endocrinol Metab. 2018. PMID: 29342293 Free article.
103 results