Phenotypic heterogeneity in individuals with MECOM variants in 2 families

Visual Abstract

[1]  T. Druley,et al.  The evolutionary dynamics and fitness landscape of clonal hematopoiesis , 2020, Science.

[2]  C. Laverdière,et al.  New MECOM variant in a child with severe neonatal cytopenias spontaneously resolving , 2020, Pediatric blood & cancer.

[3]  D. Munirathnam,et al.  A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT‐2) in an infant , 2018, Pediatric blood & cancer.

[4]  T. Vulliamy,et al.  Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease , 2018, Haematologica.

[5]  M. Kurokawa,et al.  Somatic MECOM mosaicism in a patient with congenital bone marrow failure without a radial abnormality , 2018, Pediatric blood & cancer.

[6]  M. Ballmaier,et al.  MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. , 2018, Blood advances.

[7]  J. Soulier,et al.  A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. , 2018, Blood.

[8]  D. Steinemann,et al.  MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies , 2017, Haematologica.

[9]  M. Tekin,et al.  A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia. , 2017, Clinical dysmorphology.

[10]  P. Valk,et al.  Review: Aberrant EVI1 expression in acute myeloid leukaemia , 2016, British journal of haematology.

[11]  K. Nakayama,et al.  Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. , 2015, American Journal of Human Genetics.

[12]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[13]  M. Kurokawa,et al.  Ecotropic viral integration site 1, stem cell self‐renewal and leukemogenesis , 2012, Cancer science.

[14]  Csaba Kiss PCR (Polymerase Chain Reaction) , 2002 .

[15]  I. Weissman,et al.  Telomere Shortening Accompanies Increased Cell Cycle Activity during Serial Transplantation of Hematopoietic Stem Cells , 2001, The Journal of experimental medicine.

[16]  D. Alberts,et al.  Expression of the zinc finger gene EVI-1 in ovarian and other cancers. , 1996, British Journal of Cancer.

[17]  T. Hojo,et al.  Symphalangism (two phalanges) in the digits of the Japanese foot. , 1995, Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft.

[18]  J. Rowley,et al.  Consistent intergenic splicing and production of multiple transcripts between AML1 at 21q22 and unrelated genes at 3q26 in (3;21)(q26;q22) translocations. , 1994, Proceedings of the National Academy of Sciences of the United States of America.