Disease: Congenital amegakaryocytic thrombocytopenia
- "Immune" Thrombocytopenia as Key Feature of a Novel ADA2 Deficiency Variant: Implication on Differential Diagnostics of ITP in Children
- A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome
- A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population
- A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia
- A neonate with congenital amegakaryocytic thrombocytopenia associated with a chromosomal microdeletion at 21q22.11 including the gene RUNX1
- A novel frameshift mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia
- A novel Mecom gene mutation associated with amegakaryocytic thrombocytopenia in a premature infant
- A novel MECOM variant associated with congenital amegakaryocytic thrombocytopenia and radioulnar synostosis
- A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure
- A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT-2) in an infant
- A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia
- A rare case of congenital amegakaryocytic thrombocytopenia associated with possible neonatal alloimmune thrombocytopenia and neutropenia by anti-HLA antibodies
- Acquired and germline predisposition to bone marrow failure: Diagnostic features and clinical implications
- Adoptive immunotherapy with antigen-specific T cells during extracorporeal membrane oxygenation (ECMO) for adenovirus-related respiratory failure in a child given haploidentical stem cell transplantation
- Advances in the understanding of congenital amegakaryocytic thrombocytopenia
- Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes
- Amegakaryocytic Thrombocytopenia
- Amegakaryocytic Thrombocytopenia
- Aminocaproic Acid
- Aminocaproic Acid
- An Unusual Case of Severe Persistent Neonatal Thrombocytopenia in an Extremely Low Birth Weight, Extreme Preterm Neonate
- Bone Marrow Failure
- Bone Marrow Failure
- CALR mutant protein rescues the response of MPL p.R464G variant associated with CAMT to eltrombopag
- CAMT in a female with developmental delay, facial malformations and central nervous system anomalies
- CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients
- Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases
- Changes in megakaryopoiesis over ontogeny and their implications in health and disease
- Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes
- Congenital amegakaryocytic thrombocytopenia
- Congenital amegakaryocytic thrombocytopenia - Not a single disease
- Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life
- Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii
- Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling
- Congenital amegakaryocytic thrombocytopenia presenting with a new thrombopoietin receptor (MPL) pathogenic variant: An instructive neonatal case
- Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies
- Congenital amegakaryocytic thrombocytopenia with inflammatory disease of ascending colon and ileocecum: a case report and literature review
- Congenital amegakaryocytic thrombocytopenia with multiple physical anomalies in a female neonate
- Congenital amegakaryocytic thrombocytopenia with severe neurological findings
- Congenital amegakaryocytic thrombocytopenia: a brief review of the literature
- Congenital amegakaryocytic thrombocytopenia: a case report of pediatric twins undergoing matched unrelated bone marrow transplantation
- Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians
- Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment
- Congenital amegakaryocytic thrombocytopenia: three case reports from patients with different clinical diagnoses and somatic abnormalities
- Congenital amegakaryocytic thrombocytopenic purpura (CAMT)
- CRISPR/Cas9-mediated gene editing. A promising strategy in hematological disorders
- Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of <em>THPO</em> as a novel mechanism of congenital amegakaryocytic thrombocytopenia
- Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia
- Developmental Stage-Specific Manifestations of Absent TPO/c-MPL Signalling in Newborn Mice
- Durable engraftment and correction of hematological abnormalities in children with congenital amegakaryocytic thrombocytopenia following myeloablative umbilical cord blood transplantation
- Establishment of a congenital amegakaryocytic thrombocytopenia model and a thrombocyte-specific reporter line in zebrafish
- F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents
- Fetal hydrops caused by a novel pathogenic MECOM variant
- Flow cytometric detection of MPL (CD110) as a diagnostic tool for differentiation of congenital thrombocytopenias
- Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry
- Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia
- Gene editing rescue of a novel <em>MPL</em> mutant associated with congenital amegakaryocytic thrombocytopenia
- Gene editing rescue of a novel MPL mutant associated with congenital amegakaryocytic thrombocytopenia
- Gene therapy of MPL deficiency: challenging balance between leukemia and pancytopenia
- Genetic predisposition syndromes: when should they be considered in the work-up of MDS?
- Genetics of familial forms of thrombocytopenia
- Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia
- Haploidentical Hematopoietic Stem Cell Transplantation in a 3-Year-Old Girl with Congenital Amegakaryocytic Thrombocytopenia: A Case Report
- Haploidentical stem cell transplantation with post-transplant cyclophosphamide for osteopetrosis and other nonmalignant diseases
- Identification of <em>MPL</em> R102P Mutation in Hereditary Thrombocytosis
- Inherited Thrombocytopenia with a Different Type of Gene Mutation: A Brief Literature Review and Two Case Studies
- Inherited thrombocytopenias: an approach to diagnosis and management
- Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice
- MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia
- Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood
- Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
- Myelodysplastic Syndrome Presenting as Amegakaryocytic Thrombocytopenia in a Collodion Baby
- Neonatal manifestations of inherited bone marrow failure syndromes
- Non-myeloablative conditioning is sufficient to achieve complete donor myeloid chimerism following matched sibling donor bone marrow transplant for myeloproliferative leukemia virus oncogene (<em>MPL</em>) mutation-driven congenital amegakaryo
- Non-myeloablative conditioning is sufficient to achieve complete donor myeloid chimerism following matched sibling donor bone marrow transplant for myeloproliferative leukemia virus oncogene (MPL) mutation-driven congenital amegakaryocytic thrombocytopeni
- Osteosarcoma after bone marrow transplantation
- Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia
- Outcomes in Hematopoietic Stem Cell Transplantation for Congenital Amegakaryocytic Thrombocytopenia
- Outcomes in pediatrics patients diagnosed with bone marrow failure disorders treated in a tertiary care center
- Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations
- Peering through zebrafish to understand inherited bone marrow failure syndromes
- Perinatal-lethal nonimmune fetal hydrops attributed to <em>MECOM</em>-associated bone marrow failure
- Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype
- Real time PCR reconfirmed three novel clinical associations of parvovirus B19: Non-occlusive bowel gangrene, amegakaryocytic thrombocytopenia & myositis
- Reduced intensity transplantation for congenital amegakaryocytic thrombocytopenia: report of a case and review of the literature
- Research progress in congenital amegakaryocytic thrombocytopenia
- Selective T-cell depletion targeting CD45RA as a novel approach for HLA-mismatched hematopoietic stem cell transplantation in pediatric nonmalignant hematological diseases
- Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene
- T-cell-depleted hematopoietic SCT from unrelated donors for the treatment of congenital amegakaryocytic thrombocytopenia
- The first report of allogeneic haematopoietic stem cell transplantations for bone marrow failure performed in Sri Lanka
- The name counts: the case of 'congenital amegakaryocytic thrombocytopenia'
- The pathology of bone marrow failure
- The Reconstitution of T-cells after Allogeneic Hematopoietic Stem Cell Transplant in a Pediatric Patient with Congenital Amegakaryocytic Thrombocytopenia (CAMT)
- The Thrombopoietin Receptor: Structural Basis of Traffic and Activation by Ligand, Mutations, Agonists, and Mutated Calreticulin
- Thrombopoietin induces hematopoiesis from mouse ES cells via HIF-1α-dependent activation of a BMP4 autoregulatory loop
- Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim
- Thrombopoietin: tickling the HSC's fancy
- Unrelated bone marrow transplant for congenital amegakaryocytic thrombocytopenia: report of two cases and review of the literature
- Update on the Use of Thrombopoietin-Receptor Agonists in Pediatrics
- Zebrafish for thrombocytopoiesis- and hemostasis-related researches and disorders