Dysmegakaryopoiesis, a clue for an early diagnosis of familial platelet disorder with propensity to acute myeloid leukemia in case of unexplained inherited thrombocytopenia associated with normal-sized platelets
Clinical phenotype of germline RUNX1 haploinsufficiency: From point mutations to large genomic deletions
Beri-Dexheimer M, Latger-Cannard V, Philippe C, et al. Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. Eur J Hum Genet. 2008;16:1014-1018.
A novel RUNX1 mutation in a kindred with familial platelet disorder with propensity to acute myeloid leukaemia: Male predominance of affected individuals
Langabeer S, Owen C, McCarron S, et al. A novel RUNX1 mutation in a kindred with familial platelet disorder with propensity to acute myeloid leukaemia: male predominance of affected individuals. Eur J Haematol. 2010;85:552-553.
A novel CBFA2 singlenucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies
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Inherited plateletstorage pool deficiency associated with a high incidence of acute myeloid leukaemia
Gerrard JM, Israels ED, Bishop AJ, et al. Inherited plateletstorage pool deficiency associated with a high incidence of acute myeloid leukaemia. Br J Haematol. 1991;79:246-255.
Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation
DOI 10.1182/blood-2005-01-0050
Heller P, Glembotsky A, Gandhi M, et al. Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. Blood. 2005;105:4664-4670. (Pubitemid 40807286)
Five new pedigrees with inherited with RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy
Owen CJ, Toze CL, Koochin A, et al. Five new pedigrees with inherited with RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 2008;112:4639-4645.
A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia
DOI 10.1046/j.1365-2141.2002.03512.x
Walker L, Stevens J, Campbell H, et al. A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia. Br J Haematol. 2002;117:878-881. (Pubitemid 34639250)
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: Clues for improved identification of the FPD/AML syndrome
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