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Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
Liu D, Billington CJ Jr, Raja N, Wong ZC, Levin MD, Resch W, Alba C, Hupalo DN, Biamino E, Bedeschi MF, Digilio MC, Squeo GM, Villa R, Parrish PCR, Knutsen RH, Osgood S, Freeman JA, Dalgard CL, Merla G, Pober BR, Mervis CB, Roberts AE, Morris CA, Osborne LR, Kozel BA. Liu D, et al. Among authors: merla g. J Am Heart Assoc. 2024 Feb 6;13(3):e031377. doi: 10.1161/JAHA.123.031377. Epub 2024 Jan 31. J Am Heart Assoc. 2024. PMID: 38293922 Free PMC article.
The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.
Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE. Sailani MR, et al. Among authors: merla g. Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19. Genome Res. 2013. PMID: 23783273 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.
Amplification of the G allele at SNP rs6983267 in 8q24 amplicons in myeloid malignancies as cause of the lack of MYC overexpression?
Micale L, Augello B, Daniele G, Macchia G, L'abbate A, Muehlematter D, Vandenberghe P, Johansson B, Cabrol C, Solé F, Dastugue N, Slovak ML, Lillington D, Raynaud S, Lafage M, Nacheva ED, Merla G, Storlazzi CT. Micale L, et al. Among authors: merla g. Blood Cells Mol Dis. 2011 Dec 15;47(4):259-61. doi: 10.1016/j.bcmd.2011.09.001. Epub 2011 Sep 25. Blood Cells Mol Dis. 2011. PMID: 21945030 No abstract available.
Detection of aneuploidies by paralogous sequence quantification.
Deutsch S, Choudhury U, Merla G, Howald C, Sylvan A, Antonarakis SE. Deutsch S, et al. Among authors: merla g. J Med Genet. 2004 Dec;41(12):908-15. doi: 10.1136/jmg.2004.023184. J Med Genet. 2004. PMID: 15591276 Free PMC article.
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.
160 results