|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MYH9-related disease (MYH9-RD) is a rare, autosomal dominant disorder caused by mutations in MYH9, the gene encoding the actin-activated motor protein non-muscle myosin IIA (NMIIA).
|
30916803 |
2019 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
MYH9 Disorders (May-Hegglin Anomaly) the Role of the Blood Smear.
|
30807393 |
2019 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Epstein syndrome nephropathy due to a severe MYH9 gene mutation can be refractory and progress rapidly; therefore, early and accurate diagnosis is important for safer therapeutic options including pre-emptive renal transplantation.
|
29532554 |
2019 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MYH9-related disorders (MYH9-RDs) caused by mutation of the MYH9 gene which encodes non-muscle myosin heavy-chain-IIA (NMMHC-IIA), an important motor protein in hemopoietic cells, are the most commonly encountered cause of inherited macrothrombocytopenia.
|
29090586 |
2017 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The objective of this study was to investigate the severity and propensity for progression of SNHL in a large series of MYH9-RD patients in relation to the causative NMMHC-IIA mutations.
|
26226608 |
2016 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Review of records revealed that he and his siblings had thrombocytopenia; polymerase chain reaction amplification with DNA sequence analysis showed a variation in the MYH9 gene previously reported as a known cause of MYH9-related disorders.
|
26446054 |
2016 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Our data suggest that DFNA17 should not be a separate genetic entity but part of the wide phenotypic spectrum of MYH9-RD characterized by congenital hematological manifestations and variable penetrance and expressivity of the extra-hematological features.
|
24890873 |
2015 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our data suggest that DFNA17 should not be a separate genetic entity but part of the wide phenotypic spectrum of MYH9-RD characterized by congenital hematological manifestations and variable penetrance and expressivity of the extra-hematological features.
|
24890873 |
2015 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family.
|
25505834 |
2014 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The analysis defined disease evolution associated to seven different MYH9 genotypes that are responsible for 85% of MYH9-RD cases.
|
24186861 |
2014 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura.
|
23759689 |
2014 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MYH9-related disease (MYH9-RD) is a rare autosomal dominant syndromic disorder caused by mutations in MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (myosin-9).
|
23123319 |
2013 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability.
|
23976996 |
2013 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MYH9-related disease (MYH9-RD) is one of the most frequent autosomal-dominant forms of inherited macrothrombocytopenias and is caused by mutations in MYH9 (nonmuscle myosin IIA), the gene coding for the heavy chain of the nonmuscle myosin IIA.
|
23940247 |
2013 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study we report 10 unrelated patients with MYH9-RD in whom the following seven MYH9 gene mutations were found: W33R, p.Q1443_K1445dup, R702H, D1424N, E1841K, R1933X, and E1945X (the first two were novel mutations).
|
23207509 |
2013 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
Myosin heavy chain-9 (MYH9)-related disorders represent a heterogenous group of hereditary diseases caused by mutations in the gene encoding the heavy chain of nonmuscle myosin IIA.
|
22627578 |
2012 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.
|
21908426 |
2012 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
MGD |
Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.
|
21908426 |
2012 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.
|
22477015 |
2012 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
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 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
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 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
BEFREE |
We present the case of a girl with MYH9-related disease whose diagnosis was facilitated by platelet electron microscopy and MYH9 sequencing.
|
23007341 |
2012 |
|
SEBASTIAN SYNDROME
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA.
|
20603234 |
2011 |
|
SEBASTIAN SYNDROME
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.
|
21542825 |
2011 |