Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. - Wikidata - wikimedia - TriplyDB

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

http://www.wikidata.org/entity/Q33394807

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Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family The contribution of mouse models to the understanding of constitutional thrombocytopenia Hereditary Predispositions to Myelodysplastic Syndrome Inherited platelet disorders: toward DNA-based diagnosis A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.Does size matter in platelet production?International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country.Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type.Inherited thrombocytopenias: an approach to diagnosis and management.Genetics of familial forms of thrombocytopenia.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 Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency Inherited thrombocytopenias frequently diagnosed in adults.Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists.[Mild bleeding diathesis in a 62-year-old woman with hereditary thrombocytopenia].Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.Congenital platelet disorders and understanding of platelet function.Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation Lessons in platelet production from inherited thrombocytopenias.Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene.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.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.Genomics of platelet disorders.Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.Bone marrow morphology and disease progression in congenital thrombocytopenia: a detailed clinicopathologic and genetic study of eight cases.Spectrum of 5'UTR mutations in ANKRD26 gene in patients with inherited thrombocytopenia: c.-140C>G mutation is more frequent than expected.Hematopoietic transcription factor mutations: important players in inherited platelet defects.

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P2860

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

http://www.wikidata.org/entity/Q33394807

description

2011 nî lūn-bûn

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2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2011 թվականի ապրիլին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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Mutations in ANKRD26 are respo ...... 78 patients from 21 families.

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Mutations in ANKRD26 are respo ...... 78 patients from 21 families.

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Mutations in ANKRD26 are respo ...... 78 patients from 21 families.

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Mutations in ANKRD26 are respo ...... 78 patients from 21 families.

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Mutations in ANKRD26 are respo ...... 78 patients from 21 families.

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Mutations in ANKRD26 are respo ...... 78 patients from 21 families.

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Mutations in ANKRD26 are respo ...... f 78 patients from 21 families

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Carlo L Balduini

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Chiara Gnan

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Elisa Civaschi

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Francesca Punzo

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Francesca Scognamiglio

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Giovanni Amendola

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Giuseppe Loffredo

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Lucia D Notarangelo

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Nuria Pujol-Moix

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Saverio Scianguetta

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Daniela De Rocco

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Maddalena Casale

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51020124

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thrombocytopenia