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A perspective on diet, epigenetics and complex diseases: where is the field headed next?
Coppedè F, Franzago M, Giardina E, Lo Nigro C, Matullo G, Moltrasio C, Nacmias B, Pileggi S, Sirchia SM, Stoccoro A, Storlazzi CT, Stuppia L, Tricarico R, Merla G. Coppedè F, et al. Among authors: merla g. Epigenomics. 2022 Oct;14(20):1281-1304. doi: 10.2217/epi-2022-0239. Epub 2022 Nov 3. Epigenomics. 2022. PMID: 36325816 Review.
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. Makrythanasis P, et al. Among authors: merla g. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23320472
Clinical and molecular characterization of COVID-19 hospitalized patients.
Benetti E, Giliberti A, Emiliozzi A, Valentino F, Bergantini L, Fallerini C, Anedda F, Amitrano S, Conticini E, Tita R, d'Alessandro M, Fava F, Marcantonio S, Baldassarri M, Bruttini M, Mazzei MA, Montagnani F, Mandalà M, Bargagli E, Furini S; GEN-COVID Multicenter Study; Renieri A, Mari F. Benetti E, et al. PLoS One. 2020 Nov 18;15(11):e0242534. doi: 10.1371/journal.pone.0242534. eCollection 2020. PLoS One. 2020. PMID: 33206719 Free PMC article.
Side effects of genome structural changes.
Reymond A, Henrichsen CN, Harewood L, Merla G. Reymond A, et al. Among authors: merla g. Curr Opin Genet Dev. 2007 Oct;17(5):381-6. doi: 10.1016/j.gde.2007.08.009. Epub 2007 Oct 24. Curr Opin Genet Dev. 2007. PMID: 17913489 Review.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Coban Akdemir ZH, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G. Lodder EM, et al. Among authors: merla g. Am J Hum Genet. 2016 Sep 1;99(3):786. doi: 10.1016/j.ajhg.2016.08.011. Epub 2016 Sep 1. Am J Hum Genet. 2016. PMID: 27588455 Free PMC article. No abstract available.
159 results