1 |
Megakaryocyte migration defects due to nonmuscle myosin IIA mutations underlie thrombocytopenia in MYH9-related disease.
62
24
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Pal K...Fowler VM
|
32315395 |
2020 |
2 |
MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy.
62
24
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Fernandez-Prado R...Perez-Gomez MV
|
31384439 |
2019 |
3 |
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
62
24
|
Pecci A...Adelstein RS
|
29679756 |
2018 |
4 |
Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.
62
24
|
Greinacher A...Bakchoul T
|
28457011 |
2017 |
5 |
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
62
24
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Verver EJ...Pecci A
|
26226608 |
2016 |
6 |
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.
62
24
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Verver E...Savoia A
|
24890873 |
2015 |
7 |
Cochlear implantation is safe and effective in patients with MYH9-related disease.
62
24
|
Pecci A...Greinacher A
|
24980457 |
2014 |
8 |
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
62
24
|
Pecci A...Savoia A
|
24186861 |
2014 |
9 |
Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: when the exception proves the rule.
62
24
|
Gresele P...Savoia A
|
23925420 |
2013 |
10 |
A new feature of the MYH9-related syndrome: chronic transaminase elevation.
62
24
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Favier R...Martignetti JA
|
22806255 |
2013 |
11 |
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
62
24
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Pecci A...Italian Registry for MYH9-releated diseases
|
22558294 |
2012 |
12 |
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations.
62
24
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Pecci A...Balduini CL
|
20844233 |
2010 |
13 |
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
62
24
|
Savoia A...Pecci A
|
20174760 |
2010 |
14 |
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.
62
24
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Seri M...Savoia A
|
12792306 |
2003 |
15 |
FLNA variants associated with disorders of platelet number or function.
24
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Vassallo P...Mumford AD
|
32299270 |
2020 |
16 |
Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial.
24
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Zaninetti C...Pecci A
|
31273088 |
2020 |
17 |
Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC.
24
|
Gresele P...BAT-VAL study investigators
|
31750621 |
2020 |
18 |
Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations.
24
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Fewings E...Tischkowitz M
|
31125547 |
2019 |
19 |
Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia.
24
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Zaninetti C...Pecci A
|
31034630 |
2019 |
20 |
Mutation in GNE is associated with severe congenital thrombocytopenia.
24
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Futterer J...UK GAPP Study Group
|
29941673 |
2018 |
21 |
Bleeding risk of surgery and its prevention in patients with inherited platelet disorders.
24
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Orsini S...Gresele P
|
28385783 |
2017 |
22 |
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
24
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Sivapalaratnam S...Turro E
|
28064200 |
2017 |
23 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
24
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Richards S...ACMG Laboratory Quality Assurance Committee
|
25741868 |
2015 |
24 |
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
24
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Noris P...Veneri D
|
24763399 |
2014 |
25 |
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.
24
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Noris P...Balduini CL
|
24990887 |
2014 |
26 |
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.
24
|
Saposnik B...French MYH9 networka
|
25077172 |
2014 |
27 |
Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents.
24
|
Kunishima S...Saito H
|
24611568 |
2014 |
28 |
Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders.
24
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Kitamura K...Kunishima S
|
24106837 |
2013 |
29 |
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease.
24
|
Sekine T...Kunishima S
|
20200500 |
2010 |
30 |
Germinal mosaicism in MYH9 disorders: a family with two affected siblings of normal parents.
24
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Kunishima S...Saito H
|
19208103 |
2009 |
31 |
MYH9-related platelet disorders.
24
|
Althaus K...Greinacher A
|
19408192 |
2009 |
32 |
Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).
24
|
Pecci A...Balduini CL
|
18503011 |
2008 |
33 |
Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders.
24
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Kunishima S...Saito H
|
18284620 |
2008 |
34 |
First description of somatic mosaicism in MYH9 disorders.
24
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Kunishima S...Saito H
|
15667538 |
2005 |
35 |
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.
24
|
Kunishima S...Saito H
|
12533692 |
2003 |
36 |
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.
24
|
Lalwani AK...Mhatre AN
|
11023810 |
2000 |
37 |
In vitro and in vivo effects of desmopressin on platelet function.
24
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Balduini CL...Gamba G
|
10509036 |
1999 |
38 |
Avatrombopag improves thrombocytopenia in MYH9-related disorder following eltrombopag treatment failure.
62
|
Arif AR...Wang Y
|
35791514 |
2022 |
39 |
Post-Kidney Transplant Brief Psychosis in a Patient With MYH9-Related Disease: A Case Report.
62
|
Moein M...Saidi R
|
36369142 |
2022 |
40 |
A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome.
62
|
Marx D...Carapito R
|
35404999 |
2022 |
41 |
Defective VWF secretion due to expression of MYH9-RD E1841K mutant in endothelial cells disrupts hemostasis.
62
|
Cao Y...Luo J
|
35764499 |
2022 |
42 |
Reduced platelet forces underlie impaired hemostasis in mouse models of MYH9-related disease.
62
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Baumann J...Bender M
|
35584211 |
2022 |
43 |
Characterization of Sensorineural Hearing Loss in Patients With MYH9-Related Disease: A Systematic Review.
62
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Peddu D...Ying YM
|
35147601 |
2022 |
44 |
"MYH9 mutation and squamous cell cancer of the tongue in a young adult: a novel case report".
62
|
Yabe TE...Ashford B
|
35125114 |
2022 |
45 |
Lower Leg Hyperpigmentation in MYH9-Related Disorder.
62
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Elsensohn AN...Smith J
|
35180070 |
2022 |
46 |
MYH9-related Disease Caused by an R1165C Mutation in a Child With Previous Diagnosis of Immune Thrombocytopenic Purpura.
62
|
Yilmaz Keskin E...Berdeli A
|
34310475 |
2021 |
47 |
Immunoglobulin A nephropathy in a patient with an MYH9 -related disorder.
62
|
Shimizu S...Morioka I
|
34383333 |
2021 |
48 |
[Gene analysis and clinical features of MYH9-related disease].
62
|
Luo XJ...Chen YS
|
34711031 |
2021 |
49 |
[Clinical and genetic features of seven children with MYH9-related disease].
62
|
Hu Y...Wu RH
|
34711033 |
2021 |
50 |
Individualized Bleeding Risk Assessment through Thromboelastography: A Case Report of May-Hegglin Anomaly in Preterm Twin Neonates.
62
|
Amodeo I...Ghirardello S
|
34682143 |
2021 |