• A case report of Epstein syndrome
• A De Novo Mutation in MYH9 in a Child With Severe and Prolonged Macrothrombocytopenia
• A novel hereditary macrothrombocytopenia
• A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl
• A preliminary study of an inherited macrothrombocytopenia disorder with abnormal large granules
• A Unique Immunofluorescence Method Promotes Accurate Diagnosis in MYH9 Disorders: A Case Report
• A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case report
• A unique talin antigenic determinant and anomalous megakaryocyte talin distribution associated with abnormal platelet formation in the Wistar Furth rat
• Abnormal subcellular distribution of myosin and talin in Wistar Furth rat platelets
• Absence of hearing loss in a mouse model for DFNA17 and MYH9-related disease: the use of public gene-targeted ES cell resources
• Acute myeloid leukemia in a child with hereditary thrombocytopenia
• Advances in understanding the pathogenesis of hereditary macrothrombocytopenia
• Anesthesia in Sebastian syndrome: a new hereditary macrothrombocytopenia
• Animal models with inherited hematopoietic abnormalities as tools to study thrombopoiesis
• Autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies and MYH9 disorders
• Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)
• Case of an hemodialysis patient with MYH9 disorders
• Chronic isolated macrothrombocytopenia with autosomal dominant transmission: a morphological and qualitative platelet disorder
• Clinical and molecular study on Fechtner syndrome--case report and literature review
• Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease
• Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes
• Cochlear implantation in a patient with Epstein syndrome
• Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes
• Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders
• Disruption of microtubules in vivo by vincristine induces large membrane complexes and other cytoplasmic abnormalities in megakaryocytes and platelets of normal rats like those in human and Wistar Furth rat hereditary macrothrombocytopenias
• Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families
• End-stage renal disease in two pediatric patients with Fechtner syndrome
• Epstein syndrome with rapid progression to end stage renal disease
• Evaluation of the immature platelet fraction contribute to the differential diagnosis of hereditary, immune and other acquired thrombocytopenias
• Familial macrothrombocytopenia associated with decreased glycosylation of platelet membrane glycoprotein IV
• Familial macrothrombocytopenia with granulocyte inclusion: a clinical and laboratory problem
• Fechtner syndrome: clinical and genetic aspects
• Fechtner syndrome: physiologic analysis of macrothrombocytopenia
• Fechtner syndrome: report of a third family and literature review
• Fechtner syndrome. A rare differential Alport syndrome diagnosis
• First successful use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia
• Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease
• Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13
• Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)
• Genome-wide linkage analysis and whole-exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia
• Genotype-phenotype correlation in MYH9-related thrombocytopenia
• Gray Platelet Syndrome-Unusual Presentation with Spontaneous Splenic Rupture: A Case Report and Literature Review
• Hereditary macrothrombocytopenia
• Hereditary macrothrombocytopenia and hearing loss
• Hereditary macrothrombocytopenia and pregnancy
• Hereditary macrothrombocytopenia, deafness, nephropathy
• Hereditary nephritis with macrothrombocytopenia: no longer an Alport syndrome variant
• Hereditary nephritis with macrothrombocytopenia: phenotypic variety and the genotypic defect
• Hereditary nephritis, platelet disorders and deafness-Epstein's syndrome
• Hereditary sensorineural hearing impairment and macrothrombocytopenia: a rare MYH9 gene mutation
• Hereditary thrombocytopenia associated with a mutation in the MYH-9 gene. Report of one case
• Hereditary thrombocytopenia with familial novel mutation in MYH9 gene: A familial case report
• Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes
• Hereditary thrombocytopenias in childhood
• Hereditary thrombocytopenias: a growing list of disorders
• Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions
• Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24
• Indirect study of thrombopoiesis (TPO, reticulated platelets, glycocalicin) in patients with hereditary macrothrombocytopenia
• Inherited platelet disorders
• Inherited thrombocytopenia caused by reduced platelet production in mice with the gunmetal pigment gene mutation
• Intriguing outcome of JAK2V617F mutation seen in a patient with MYH9-related hereditary macrothrombocytopenia
• Isolated thrombocytopenia in pregnancy. Etiopathogenic study and therapeutic approach in 60 patients
• Labour epidural analgesia for a woman with hereditary macrothrombocytopenia
• Lipid and membrane fluidity abnormalities in platelets and megakaryocytes of the hereditary macrothrombocytopenic Wistar Furth rat
• Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9
• Macrothrombocytopenia and progressive deafness: a new genetic syndrome
• May-Hegglin Anomaly
• May-Hegglin Anomaly
• May-Hegglin's syndrome. Hereditary macrothrombocytopenia with inclusions in neutrophil granulocytes
• Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia
• Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families
• MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation
• Myosin Heavy Chain 9 (MYH9)-Related Congenital Macrothrombocytopenia
• New types of granulocyte inclusions in hereditary macrothrombocytopenias
• Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes
• Normal distribution of collagen IV in renal basement membranes in Epstein's syndrome
• Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice
• Patient was wrongly diagnosed and repeatedly treated for immune thrombocytopenia for 50 years
• Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease
• Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome)
• Platelets of the Wistar Furth rat have reduced levels of alpha-granule proteins. An animal model resembling gray platelet syndrome
• Prolonged bleeding time with defective platelet filopodia formation in the Wistar Furth rat
• R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura
• Recent advances in inherited platelet disorders
• Renal manifestations of patients with MYH9-related disorders
• Sebastian platelet syndrome: a hereditary macrothrombocytopenia
• Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions
• Sebastian syndrome: case report and review of the literature
• Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in <em>GNE</em>
• Sitosterolemia (phytosterolemia)
• Study of Bernard-Soulier Syndrome Megakaryocytes and Platelets Using Patient-Derived Induced Pluripotent Stem Cells
• Successful Kidney Transplantation in Epstein Syndrome With Antiplatelet Antibodies and Donor-specific Antibodies: A Case Report
• Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice
• The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia
• The organizing principle of the platelet glycoprotein Ib-IX-V complex
• The Wistar Furth rat: an animal model of hereditary macrothrombocytopenia
• Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes)
• Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders
• Variants of Alport's syndrome
• Whole exome sequencing for diagnosis of hereditary thrombocytopenia