First description of somatic mosaicism in MYH9 disorders. - Wikidata - wikimedia - TriplyDB

First description of somatic mosaicism in MYH9 disorders.

First description of somatic mosaicism in MYH9 disorders.

http://www.wikidata.org/entity/Q33364644

about

An inherited macrothrombocytopenic disorder with abnormal large granules.Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).Renal manifestations of patients with MYH9-related disorders.Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents.

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First description of somatic mosaicism in MYH9 disorders.

http://www.wikidata.org/entity/Q33364644

description

2005 nî lūn-bûn

@nan

2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի փետրվարին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

@zh-hant

2005年論文

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2005年論文

@zh-mo

2005年論文

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2005年论文

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name

First description of somatic mosaicism in MYH9 disorders.

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First description of somatic mosaicism in MYH9 disorders.

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type

label

First description of somatic mosaicism in MYH9 disorders.

@ast

First description of somatic mosaicism in MYH9 disorders.

@en

prefLabel

First description of somatic mosaicism in MYH9 disorders.

@ast

First description of somatic mosaicism in MYH9 disorders.

@en

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P356

J.1365-2141.2004.05323.X

P1433

British Journal of Haematology

P1476

First description of somatic mosaicism in MYH9 disorders.

@en

P2093

Hidehiko Saito

http://www.w3.org/2001/XMLSchema#string

Kentaro Yokoi

http://www.w3.org/2001/XMLSchema#string

Motohiro Hamaguchi

http://www.w3.org/2001/XMLSchema#string

Shinji Kunishima

http://www.w3.org/2001/XMLSchema#string

Tadashi Matsushita

http://www.w3.org/2001/XMLSchema#string

Takao Yoshihara

http://www.w3.org/2001/XMLSchema#string

Yoko Nakase

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.

Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.

Misdiagnosis of chronic thrombocytopenia in childhood.

Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness.

Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings.

Somatic mosaicism in hemophilia A: a fairly common event.

P304

360-365

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scholarly article

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10.1111/J.1365-2141.2004.05323.X

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3

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128

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2005-02-01T00:00:00Z

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8063271

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P698

15667538

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