Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.
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Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)Macrothrombocytopenia in north India: role of automated platelet data in the detection of an under diagnosed entity.Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.Qualitative disorders of platelets and megakaryocytes.Giant platelet syndrome.The molecular basis of congenital thrombocytopenias: insights into megakaryopoiesis.Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura.Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran.A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding.Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families.Thrombocytopenias: a clinical point of view.Inherited platelet disorders: thrombocytopenias and thrombocytopathies.Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.Inherited platelet disorders: a clinical approach to diagnosis and management.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.Myocardial infarction in two cousins heterozygous for ASN41HIS autosomal dominant variant of Bernard-Soulier syndrome.Genetics of familial forms of thrombocytopenia.Inherited thrombocytopenias frequently diagnosed in adults.Congenital macrothrombocytopenia is a heterogeneous disorder in India.Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO.Parsing the repertoire of GPIb-IX-V disorders.Spectrum of the mutations in Bernard-Soulier syndrome.A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis.Novel heterozygous missense mutation in the platelet glycoprotein Ib beta gene associated with isolated giant platelet disorder.A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations.Diagnosis and Management of Inherited Platelet Disorders.A family with Bolzano-type Bernard-Soulier syndrome carries a benign A1939T MYH9 mutation.Flow cytometry as a tool in the diagnosis of Bernard-Soulier syndrome in Brazilian patients.A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia.Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?
P2860
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P2860
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.
description
2001 nî lūn-bûn
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2001 թուականի Մարտին հրատարակուած գիտական յօդուած
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2001 թվականի մարտին հրատարակված գիտական հոդված
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2001年の論文
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2001年学术文章
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2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
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2001年学术文章
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2001年學術文章
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name
Autosomal dominant macrothromb ...... gous Bernard-Soulier syndrome.
@ast
Autosomal dominant macrothromb ...... gous Bernard-Soulier syndrome.
@en
Autosomal dominant macrothromb ...... gous Bernard-Soulier syndrome.
@nl
type
label
Autosomal dominant macrothromb ...... gous Bernard-Soulier syndrome.
@ast
Autosomal dominant macrothromb ...... gous Bernard-Soulier syndrome.
@en
Autosomal dominant macrothromb ...... gous Bernard-Soulier syndrome.
@nl
prefLabel
Autosomal dominant macrothromb ...... gous Bernard-Soulier syndrome.
@ast
Autosomal dominant macrothromb ...... gous Bernard-Soulier syndrome.
@en
Autosomal dominant macrothromb ...... gous Bernard-Soulier syndrome.
@nl
P2093
P356
P1433
P1476
Autosomal dominant macrothromb ...... gous Bernard-Soulier syndrome.
@en
P2093
Balduini CL
Belletti S
Del Vecchio M
Iolascon A
Perrotta S
P304
P356
10.1182/BLOOD.V97.5.1330
P407
P577
2001-03-01T00:00:00Z