|
May-Hegglin anomaly
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
May-Hegglin anomaly (MHA) is a rare autosomal dominant disorder caused by a mutation in the myosin heavy chain 9 (MYH9) gene.
|
30720677 |
2020 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
MYH9 Disorders (May-Hegglin Anomaly) the Role of the Blood Smear.
|
30807393 |
2019 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
MYH9 spectrum disorders include May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes.
|
26446054 |
2016 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
CLINGEN |
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
|
24890873 |
2015 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.
|
25077172 |
2014 |
|
May-Hegglin anomaly
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Recent evidence links MHA to mutations in the MYH9 gene.
|
23759689 |
2014 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
CLINGEN |
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family.
|
25505834 |
2014 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
|
24186861 |
2014 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
CLINGEN |
Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability.
|
23976996 |
2013 |
|
May-Hegglin anomaly
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.
|
22477015 |
2012 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
CLINGEN |
Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.
|
21908426 |
2012 |
|
May-Hegglin anomaly
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
MYH9 mutations cause the inherited macro-thrombocytopenic syndromes of May-Hegglin anomaly, Fechtner syndrome, Sebastian syndrome, and Epstein syndrome, collectively referred to as MYH9-related disease.
|
23007341 |
2012 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
MGD |
Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.
|
21908426 |
2012 |
|
May-Hegglin anomaly
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
For instance, identification of MYH9 as the gene whose mutations cause the May-Hegglin anomaly led to the recognition that Sebastian platelet syndrome, Epstein syndrome, and Fechtner syndrome derive from mutations of the same gene and describe overlapping disorders.
|
22886561 |
2012 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
MYH9-associated disorders (May-Hegglin anomaly, Epstein and Fechtner syndrome, and others) are inherited in an autosomal dominant manner and characterized by defects in different organs (including eyes, ears, kidneys and thrombocytes).
|
23144074 |
2012 |
|
May-Hegglin anomaly
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
These findings were consistent with MHA and they were identified to express the MYH9 mutation, D1424H.
|
21329637 |
2011 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
CLINGEN |
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.
|
21542825 |
2011 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
|
20174760 |
2010 |
|
May-Hegglin anomaly
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Abnormalities of the MYH9 locus also underlie rare autosomal dominant diseases such as May-Hegglin anomaly, and Sebastian, Epstein (EPS), and Fechtner (FTNS) syndromes that are characterized by macrothrombocytopenia and cytoplasmic inclusion bodies in granulocytes.
|
20200500 |
2010 |
|
May-Hegglin anomaly
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
Currently, the May-Hegglin anomaly (MHA), Sebastian (SBS), Fechtner (FTNS) and Epstein (EPS) syndrome are considered to be distinct clinical manifestations of a single disease caused by mutations of the MYH9 gene encoding the heavy chain of non-muscle myosin IIA (NMMHC-IIA).
|
19557653 |
2009 |
|
May-Hegglin anomaly
|
1.000 |
GeneticVariation
|
phenotype |
BEFREE |
MYH9 disorders such as May-Hegglin anomaly are characterized by macrothrombocytopenia and cytoplasmic granulocyte inclusion bodies that result from mutations in MYH9, the gene for nonmuscle myosin heavy chain-IIA (NMMHC-IIA).
|
18192507 |
2008 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
BEFREE |
Hereditary thrombocytopenias characterized by mutations in the gene for non-muscle myosin heavy chain IIA (NMMHC-IIA) are known as MYH9-related hereditary macrothrombocytopenia, and include the May-Hegglin anomaly, Sebastian platelet syndrome, Fechtner syndrome, and Epstein syndrome.
|
17655694 |
2007 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
CLINGEN |
Cochlear implants for DFNA17 deafness.
|
17146397 |
2006 |
|
May-Hegglin anomaly
|
1.000 |
GeneticVariation
|
phenotype |
UNIPROT |
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
|
16969870 |
2006 |
|
May-Hegglin anomaly
|
1.000 |
Biomarker
|
phenotype |
CLINGEN |
Expression of Myh9 in the mammalian cochlea: localization within the stereocilia.
|
16862555 |
2006 |