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  1. Clinical roundtable monograph: Paroxysmal nocturnal hemoglobinuria: a case-based discussion.

    ... all ages. PNH is caused by the acquisition of a somatic mutation of the gene phosphatidylinositol glycan anchor (PIG-A) in a ... cell (HSC), with clonal expansion of the mutated HSC. The mutation causes a deficiency in the synthesis of glycosylphosphatidylinositol ...

    Research Article last updated 05/14/2013 - 3:28pm.

  2. Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact

    ... by fluorescence in situ hybridization , molecular mutation screening, and array comparative genomic hybridization (aCGH). By ...

    Research Article last updated 01/08/2014 - 8:30am.

  3. Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes

    ... older persons, detection of an MDS-associated somatic mutation in a cytopenic patient without other evidence of MDS may cause ...

    Research Article last updated 06/03/2015 - 1:38pm.

  4. Non-t(6;9) and Non-Inv(3) Balanced Chromosomal Rearrangements Are Associated With Poor Survival Outcomes in Myelodysplastic Syndromes

    ... which might be influenced by the presence of SRSF2 mutation . Bone Marrow ...

    Research Article last updated 06/03/2015 - 8:44am.

  5. p53 protein expression independently predicts outcome in patients with lower-risk myelodysplastic syndromes with del(5q)

    ... cells with strong p53 expression confirmed TP53 mutation , whereas cells with moderate expression were predominantly of ...

    Research Article last updated 04/23/2014 - 12:26pm.

  6. Paroxysmal nocturnal hemoglobinuria and the complement system: recent insights and novel anticomplement strategies

    ... marrow failure . PNH is due to a somatic, acquired mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene, ...

    Research Article last updated 03/05/2013 - 9:38am.

  7. Paroxysmal nocturnal hemoglobinuria and the complement system: recent insights and novel anticomplement strategies

    ... marrow failure . PNH is due to a somatic, acquired mutation in the X-linked phosphatidylinositol glycan class A (PIG-A) gene, ...

    Research Article last updated 10/02/2012 - 9:57am.

  8. Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry.

    ... stem cell disorder characterized by a somatic mutation in the PIGA gene, leading to a deficiency of proteins linked to ...

    Research Article last updated 10/11/2011 - 5:58pm.

  9. Paroxysmal nocturnal hemoglobinuria from bench to bedside

    ... hematopoietic stem cell (HSC) that acquires a somatic mutation in a gene called phosphatidylinositol glycan anchor biosynthesis, ...

    Research Article last updated 10/11/2011 - 5:58pm.

  10. Mutational profiling of therapy-related myelodysplastic syndromes and acute myeloid leukemia by next generation sequencing, a comparison with de novo diseases

    ... Amplicon Cancer Panel (Illumina) covering mutation hotspots of 53 genes. Overall, mutation(s) were detected in 58.6% of t-MDS/AML and 56.8% of de novo MDS/AML. ...

    Research Article last updated 03/02/2015 - 2:00pm.