R705H mutation of MYH9 is associated with MYH9‐related disease and not only with non‐syndromic deafness DFNA17
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A. Savoia | V. Topsakal | S. Ryhänen | A. Pecci | S. Barozzi | D. De Rocco | E. Verver | H. Kunst
[1] Nicole Schlegel,et al. Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders , 2014, Molecular genetics & genomic medicine.
[2] M. Ballmaier,et al. MYH9‐Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype–Phenotype Correlations , 2014, Human mutation.
[3] P. Noris,et al. Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study , 2013, British journal of haematology.
[4] R. Favier,et al. A new feature of the MYH9‐related syndrome: Chronic transaminase elevation , 2013, Hepatology.
[5] P. Noris,et al. Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome , 2012, PloS one.
[6] A. Savoia,et al. Recent advances in the understanding and management of MYH9‐related inherited thrombocytopenias , 2011, British journal of haematology.
[7] A. Greinacher,et al. MYH-9 Related Platelet Disorders: Strategies for Management and Diagnosis , 2010, Transfusion Medicine and Hemotherapy.
[8] H. Saito,et al. Advances in the understanding of MYH9 disorders , 2010, Current opinion in hematology.
[9] P. Noris,et al. Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder , 2010, Thrombosis and Haemostasis.
[10] P. Noris,et al. Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia , 2009, Journal of thrombosis and haemostasis : JTH.
[11] C. Schmid,et al. A new equation to estimate glomerular filtration rate. , 2009, Annals of internal medicine.
[12] T. Eddinger,et al. Myosin II isoforms in smooth muscle: heterogeneity and function. , 2007, American journal of physiology. Cell physiology.
[13] M. Bahlo,et al. Cochlear Implants for DFNA17 Deafness , 2006, The Laryngoscope.
[14] A. Savoia,et al. Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains. , 2004, Genomics.
[15] R. Ravazzolo,et al. 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 , 2003, Medicine.
[16] H. Saito,et al. Immunofluorescence Analysis of Neutrophil Nonmuscle Myosin Heavy Chain-A in MYH9 Disorders: Association of Subcellular Localization with MYH9 Mutations , 2003, Laboratory Investigation.
[17] Toshihiro Tanaka,et al. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). , 2001, Blood.
[18] M. Kelley,et al. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. , 2000, American journal of human genetics.
[19] T. Ortel,et al. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly , 2000, Nature Genetics.
[20] U Magrini,et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. , 2000, Nature genetics.