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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse J, Van Esch H, Lacombe D, Goizet C, Phan-Dinh Tuy F, van Bokhoven H, Fryns JP, Chelly J, Ropers HH, Moraine C, Hamel BC, Briault S. Laumonnier F, et al. J Med Genet. 2005 Oct;42(10):780-6. doi: 10.1136/jmg.2004.029439. J Med Genet. 2005. PMID: 16199551 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. 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
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. 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.
Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.
De Vita S, Mulligan C, McElwaine S, Dagna-Bricarelli F, Spinelli M, Basso G, Nizetic D, Groet J. De Vita S, et al. Br J Haematol. 2007 May;137(4):337-41. doi: 10.1111/j.1365-2141.2007.06574.x. Br J Haematol. 2007. PMID: 17456055 Free article.