The name counts: the case of 'congenital amegakaryocytic thrombocytopenia'

Not available.

[1]  A. Savoia,et al.  Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia , 2022, Haematologica.

[2]  M. Ballmaier,et al.  Congenital amegakaryocytic thrombocytopenia - Not a single disease. , 2021, Best practice & research. Clinical haematology.

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

[4]  L. Horstman,et al.  Romiplostim (Nplate®) and Oprelvekin (Neumega®) Correct Thrombocytopenia in TAR Syndrome (Thrombocytopenia with Absent Radii) , 2017 .

[5]  A. Pastore,et al.  Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim , 2017, EMBO molecular medicine.

[6]  T. Walsh,et al.  Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin. , 2017, Blood.

[7]  K. Nakayama,et al.  Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. , 2015, American journal of human genetics.

[8]  Nathan R. Wilson,et al.  Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia. , 2013, Blood.

[9]  C. Kratz,et al.  Faculty Opinions recommendation of Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. , 2012 .

[10]  T. Nakahata,et al.  Defective response to thrombopoietin and impaired expression of c‐mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia , 1997, British journal of haematology.

[11]  I. Sherman,et al.  CONGENITAL ESSENTIAL THROMBOCYTOPENIA , 1929 .

[12]  M. Ballmaier,et al.  c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. , 2001, Blood.

[13]  Long T. Nguyen,et al.  Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation , 2000, Nature Genetics.