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Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker.
McElwaine S, Mulligan C, Groet J, Spinelli M, Rinaldi A, Denyer G, Mensah A, Cavani S, Baldo C, Dagna-Bricarelli F, Hann I, Basso G, Cotter FE, Nizetic D. McElwaine S, et al. Among authors: baldo c. Br J Haematol. 2004 Jun;125(6):729-42. doi: 10.1111/j.1365-2141.2004.04982.x. Br J Haematol. 2004. PMID: 15180862 Free article.
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration.
Murray A, Letourneau A, Canzonetta C, Stathaki E, Gimelli S, Sloan-Bena F, Abrehart R, Goh P, Lim S, Baldo C, Dagna-Bricarelli F, Hannan S, Mortensen M, Ballard D, Syndercombe Court D, Fusaki N, Hasegawa M, Smart TG, Bishop C, Antonarakis SE, Groet J, Nizetic D. Murray A, et al. Among authors: baldo c. Stem Cells. 2015 Jun;33(6):2077-84. doi: 10.1002/stem.1968. Stem Cells. 2015. PMID: 25694335 Free PMC article.
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance.
Prandini P, Deutsch S, Lyle R, Gagnebin M, Delucinge Vivier C, Delorenzi M, Gehrig C, Descombes P, Sherman S, Dagna Bricarelli F, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE. Prandini P, et al. Among authors: baldo c. Am J Hum Genet. 2007 Aug;81(2):252-63. doi: 10.1086/519248. Epub 2007 Jun 20. Am J Hum Genet. 2007. PMID: 17668376 Free PMC article.
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Cecconi M, et al. Among authors: baldo c. Am J Med Genet A. 2005 Apr 30;134(3):247-53. doi: 10.1002/ajmg.a.30492. Am J Med Genet A. 2005. PMID: 15742365
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L. Ivanovski I, et al. Among authors: baldo c. Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300384 Free article.
First-trimester euploid miscarriages analysed by array-CGH.
Viaggi CD, Cavani S, Malacarne M, Floriddia F, Zerega G, Baldo C, Mogni M, Castagnetta M, Piombo G, Coviello DA, Camandona F, Lijoi D, Insegno W, Traversa M, Pierluigi M. Viaggi CD, et al. Among authors: baldo c. J Appl Genet. 2013 Aug;54(3):353-9. doi: 10.1007/s13353-013-0157-x. Epub 2013 Jun 19. J Appl Genet. 2013. PMID: 23780398
105 results