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Page 1
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium; Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics; Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA. Kaiser FJ, et al. Among authors: musio a. Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. Hum Mol Genet. 2014. PMID: 24403048 Free PMC article.
Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review.
Micheloni G, Frattini A, Donini M, Dusi S, Leszl A, Di Meglio A, Pigazzi M, Musio A, Zecca M, Mina T, Rabusin M, Roccia P, Bernasconi P, Dambruoso I, Minelli A, Montalbano G, Acquati F, Porta G, Valli R, Pasquali F. Micheloni G, et al. Among authors: musio a. Genes (Basel). 2023 Nov 16;14(11):2085. doi: 10.3390/genes14112085. Genes (Basel). 2023. PMID: 38003028 Free PMC article. Review.
The synergism of SMC1A cohesin gene silencing and bevacizumab against colorectal cancer.
Di Nardo M, Astigiano S, Baldari S, Pallotta MM, Porta G, Pigozzi S, Antonini A, Emionite L, Frattini A, Valli R, Toietta G, Soddu S, Musio A. Di Nardo M, et al. Among authors: musio a. J Exp Clin Cancer Res. 2024 Feb 16;43(1):49. doi: 10.1186/s13046-024-02976-2. J Exp Clin Cancer Res. 2024. PMID: 38365745 Free PMC article.
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Deardorff MA, et al. Among authors: musio a. Am J Hum Genet. 2007 Mar;80(3):485-94. doi: 10.1086/511888. Epub 2007 Jan 17. Am J Hum Genet. 2007. PMID: 17273969 Free PMC article.
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
Revenkova E, Focarelli ML, Susani L, Paulis M, Bassi MT, Mannini L, Frattini A, Delia D, Krantz I, Vezzoni P, Jessberger R, Musio A. Revenkova E, et al. Among authors: musio a. Hum Mol Genet. 2009 Feb 1;18(3):418-27. doi: 10.1093/hmg/ddn369. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996922 Free PMC article.
112 results