Associated Papers
Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports.
Tang H et al.
Molecular Cytogenetics, 2023
Congenital leukemia: A case report and review of literature.
Yang CX et al.
World Journal of Clinical Cases, 2023
Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.
Gutierrez-Rodrigues F et al.
Haematologica, 2022
34587721 (PubMed )
Supplement: 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 2022
35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S18_SNV-RNA
Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.
Fornerod M et al.
Blood Cancer Discovery, 2021
34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12
NUP98 is rearranged in 3.8% of pediatric AML forming a clinical and molecular homogenous group with a poor prognosis.
Struski S et al.
Leukemia, 2017
Distinct GATA1 Point Mutations in Monozygotic Twins With Down Syndrome and Transient Abnormal Myelopoiesis From a Triplet Pregnancy: A Case Report and Review of Literature.
Yin L et al.
American Journal of Clinical Pathology, 2016
Acute megakaryoblastic leukemia with acquired trisomy 21 and GATA1 mutations in phenotypically normal children.
Ono R et al.
European Journal of Pediatrics, 2015
Transient myeloproliferative disorder and GATA1 mutation in neonates with and without Down syndrome.
Tsai MH et al.
Indian Journal of Pediatrics, 2011
Down syndrome and GATA1 mutations in transient abnormal myeloproliferative disorder: mutation classes correlate with progression to myeloid leukemia.
Kanezaki R et al.
Blood, 2010
Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome.
Cabelof DC et al.
Blood, 2009
Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome.
Pine SR et al.
Blood, 2007
GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature.
Splendore A et al.
Human Mutation, 2005
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