Hereditary macrothrombocytopathia, nephritis and deafness.
about
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness.Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.Medich giant platelet disorder: a unique alpha granule deficiency I. Structural abnormalities.Grey platelet syndrome: evidence for alpha-granule localization of the platelet plasminogen activator inhibitor-1 pool.Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations.Epstein syndrome: oral lesions in a patient with nephropathy, deafness and thrombocytopenia.Pitfalls in the diagnosis of immune thrombocytopenic purpura in children: 4 case reports.Thrombocytopenias: a clinical point of view.Epstein syndrome presenting as renal failure in young patients.MYH-9 Related Platelet Disorders: Strategies for Management and DiagnosisRecent advances in the understanding and management of MYH9-related inherited thrombocytopenias.Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes).Preoperative use of platelets in a 6-year-old with acute appendicitis and a myosin heavy chain 9-related disorder: a case report and review of literature.Epstein's syndrome: case report and survey of the literature.Megakaryocyte and platelet ultrastructure in the Wistar Furth ratNormal distribution of collagen IV in renal basement membranes in Epstein's syndrome.Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?Tranexamic acid-associated ligneous conjunctivitis with gingival and peritoneal lesionsAlport's syndrome.Platelets of the Wistar Furth rat have reduced levels of alpha-granule proteins. An animal model resembling gray platelet syndrome.Glomerular pathology in autosomal dominant MYH9 spectrum disorders: what are the clues telling us about disease mechanism?Mapping of Alport syndrome to the long arm of the X chromosome.Glycoprotein Ib is homogeneously distributed on external and internal membranes of resting platelets.A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.Septin 7 reduces nonmuscle myosin IIA activity in the SNAP23 complex and hinders GLUT4 storage vesicle docking and fusion.Glomerular diseases: genetic causes and future therapeutics.How benign is hematuria? Using genetics to predict prognosis.Cell-matrix adhesion of podocytes in physiology and disease.Plasma from a case of recurrent idiopathic FSGS perturbs non-muscle myosin IIA (MYH9 protein) in human podocytes.Inherited renal disease and genetic counseling.Alport syndrome. A review of the ocular manifestations.The organization of microtubules and microtubule coils in giant platelet disorders.Basement Membrane Defects in Genetic Kidney Diseases.An unusual cause of renal failure; Epstein syndrome.
P2860
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P2860
Hereditary macrothrombocytopathia, nephritis and deafness.
description
1972 nî lūn-bûn
@nan
1972 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1972 թվականի մարտին հրատարակված գիտական հոդված
@hy
1972年の論文
@ja
1972年論文
@yue
1972年論文
@zh-hant
1972年論文
@zh-hk
1972年論文
@zh-mo
1972年論文
@zh-tw
1972年论文
@wuu
name
Hereditary macrothrombocytopathia, nephritis and deafness.
@ast
Hereditary macrothrombocytopathia, nephritis and deafness.
@en
type
label
Hereditary macrothrombocytopathia, nephritis and deafness.
@ast
Hereditary macrothrombocytopathia, nephritis and deafness.
@en
prefLabel
Hereditary macrothrombocytopathia, nephritis and deafness.
@ast
Hereditary macrothrombocytopathia, nephritis and deafness.
@en
P2093
P1476
Hereditary macrothrombocytopathia, nephritis and deafness.
@en
P2093
Bernfield MR
Epstein CJ
Goodman JR
Kushner JH
P304
P356
10.1016/0002-9343(72)90017-4
P407
P577
1972-03-01T00:00:00Z