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Germline mosaicism in Cornelia de Lange syndrome: dilemmas and risk figures.
Mariani M, Bettini LR, Cereda A, Maitz S, Gervasini C, Russo S, Masciadri M, Biondi A, Larizza L, Selicorni A. Mariani M, et al. Among authors: bettini lr. Am J Med Genet A. 2013 Jul;161A(7):1825-6. doi: 10.1002/ajmg.a.35988. Epub 2013 May 21. Am J Med Genet A. 2013. PMID: 23696053 No abstract available.
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.
Kline AD, Calof AL, Lander AD, Gerton JL, Krantz ID, Dorsett D, Deardorff MA, Blagowidow N, Yokomori K, Shirahige K, Santos R, Woodman J, Megee PC, O'Connor JT, Egense A, Noon S, Belote M, Goodban MT, Hansen BD, Timmons JG, Musio A, Ishman SL, Bryan Y, Wu Y, Bettini LR, Mehta D, Zakari M, Mills JA, Srivastava S, Haaland RE. Kline AD, et al. Among authors: bettini lr. Am J Med Genet A. 2015 Jun;167(6):1179-92. doi: 10.1002/ajmg.a.37056. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899772
CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies.
Fazio G, Gaston-Massuet C, Bettini LR, Graziola F, Scagliotti V, Cereda A, Ferrari L, Mazzola M, Cazzaniga G, Giordano A, Cotelli F, Bellipanni G, Biondi A, Selicorni A, Pistocchi A, Massa V. Fazio G, et al. Among authors: bettini lr. J Cell Physiol. 2016 Mar;231(3):613-22. doi: 10.1002/jcp.25106. J Cell Physiol. 2016. PMID: 26206533
Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?
Cavalleri V, Bettini LR, Barboni C, Cereda A, Mariani M, Spinelli M, Gervasini C, Russo S, Biondi A, Jankovic M, Selicorni A. Cavalleri V, et al. Among authors: bettini lr. Am J Med Genet A. 2016 Jan;170A(1):130-4. doi: 10.1002/ajmg.a.37390. Epub 2015 Oct 5. Am J Med Genet A. 2016. PMID: 26437745
61 results