Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
about
The contribution of mouse models to the understanding of constitutional thrombocytopeniaHereditary Predispositions to Myelodysplastic SyndromeInherited platelet disorders: toward DNA-based diagnosisLinkage between the mechanisms of thrombocytopenia and thrombopoiesisRedefining ALL classification: toward detecting high-risk ALL and implementing precision medicineChildhood acute lymphoblastic leukemia: Integrating genomics into therapyNovel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignanciesMyelodysplastic Syndromes Diagnosis: What Is the Role of Molecular Testing?A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino AmericansGermline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.Diagnosis and treatment of inherited thrombocytopenias.Molecular basis of inherited thrombocytopenias.Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults.Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: a nationwide survey in Japan.Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: A detailed phenotypic study of a family.Inherited thrombocytopenias-recent advances in clinical and molecular aspects.Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defectsGermline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia.Bone marrow morphology and disease progression in congenital thrombocytopenia: a detailed clinicopathologic and genetic study of eight cases.Hematopoietic transcription factor mutations: important players in inherited platelet defects.Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.Germline ETV6 mutations and predisposition to hematological malignancies.Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias.ETV6 in hematopoiesis and leukemia predisposition.Non-infectious chemotherapy-associated acute toxicities during childhood acute lymphoblastic leukemia therapy.The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemiaGermline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.The Conundrum of Genetic "Drivers" in Benign Conditions.An ETV6-ABL1 fusion in a patient with chronic myeloproliferative neoplasm: Initial response to Imatinib followed by rapid transformation into ALL.Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.
P2860
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P2860
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
description
2015 nî lūn-bûn
@nan
2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@ast
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@en
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@en-gb
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@nl
type
label
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@ast
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@en
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@en-gb
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@nl
prefLabel
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@ast
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@en
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@en-gb
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@nl
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P2860
P50
P921
P3181
P356
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P1476
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
@en
P2093
Akiko Shimamura
Barbara Neistadt
Boglarka Gyurkocza
Bradford S Schwartz
Christopher J Mariani
Colin C Pritchard
David A Williams
Inga Hofmann
Jane E Churpek
Janis L Abkowitz
P2860
P2888
P304
P3181
P356
10.1038/NG.3177
P407
P577
2015-01-12T00:00:00Z
P5875
P6179
1043163782