BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

432 related articles for article (PubMed ID: 11590545)

  • 1. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
    Heath KE; Campos-Barros A; Toren A; Rozenfeld-Granot G; Carlsson LE; Savige J; Denison JC; Gregory MC; White JG; Barker DF; Greinacher A; Epstein CJ; Glucksman MJ; Martignetti JA
    Am J Hum Genet; 2001 Nov; 69(5):1033-45. PubMed ID: 11590545
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
    Seri M; Cusano R; Gangarossa S; Caridi G; Bordo D; Lo Nigro C; Ghiggeri GM; Ravazzolo R; Savino M; Del Vecchio M; d'Apolito M; Iolascon A; Zelante LL; Savoia A; Balduini CL; Noris P; Magrini U; Belletti S; Heath KE; Babcock M; Glucksman MJ; Aliprandis E; Bizzaro N; Desnick RJ; Martignetti JA
    Nat Genet; 2000 Sep; 26(1):103-5. PubMed ID: 10973259
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
    Seri M; Savino M; Bordo D; Cusano R; Rocca B; Meloni I; Di Bari F; Koivisto PA; Bolognesi M; Ghiggeri GM; Landolfi R; Balduini CL; Zelante L; Ravazzolo R; Renieri A; Savoia A
    Hum Genet; 2002 Feb; 110(2):182-6. PubMed ID: 11935325
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
    Kunishima S; Matsushita T; Kojima T; Amemiya N; Choi YM; Hosaka N; Inoue M; Jung Y; Mamiya S; Matsumoto K; Miyajima Y; Zhang G; Ruan C; Saito K; Song KS; Yoon HJ; Kamiya T; Saito H
    J Hum Genet; 2001; 46(12):722-9. PubMed ID: 11776386
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies and MYH9 disorders].
    Kunishima S
    Rinsho Byori; 2009 Apr; 57(4):365-70. PubMed ID: 19489439
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.
    Arrondel C; Vodovar N; Knebelmann B; Grünfeld JP; Gubler MC; Antignac C; Heidet L
    J Am Soc Nephrol; 2002 Jan; 13(1):65-74. PubMed ID: 11752022
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes.
    D'Apolito M; Guarnieri V; Boncristiano M; Zelante L; Savoia A
    Gene; 2002 Mar; 286(2):215-22. PubMed ID: 11943476
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [May-Hegglin anomaly--from genome research to clinical laboratory].
    Kunishima S
    Rinsho Byori; 2003 Sep; 51(9):898-904. PubMed ID: 14560660
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genotype-phenotype correlation in MYH9-related thrombocytopenia.
    Dong F; Li S; Pujol-Moix N; Luban NL; Shin SW; Seo JH; Ruiz-Saez A; Demeter J; Langdon S; Kelley MJ
    Br J Haematol; 2005 Aug; 130(4):620-7. PubMed ID: 16098078
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome).
    Ghiggeri GM; Caridi G; Magrini U; Sessa A; Savoia A; Seri M; Pecci A; Romagnoli R; Gangarossa S; Noris P; Sartore S; Necchi V; Ravazzolo R; Balduini CL
    Am J Kidney Dis; 2003 Jan; 41(1):95-104. PubMed ID: 12500226
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
    Deutsch S; Rideau A; Bochaton-Piallat ML; Merla G; Geinoz A; Gabbiani G; Schwede T; Matthes T; Antonarakis SE; Beris P
    Blood; 2003 Jul; 102(2):529-34. PubMed ID: 12649151
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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.
    Seri M; Pecci A; Di Bari F; Cusano R; Savino M; Panza E; Nigro A; Noris P; Gangarossa S; Rocca B; Gresele P; Bizzaro N; Malatesta P; Koivisto PA; Longo I; Musso R; Pecoraro C; Iolascon A; Magrini U; Rodriguez Soriano J; Renieri A; Ghiggeri GM; Ravazzolo R; Balduini CL; Savoia A
    Medicine (Baltimore); 2003 May; 82(3):203-15. PubMed ID: 12792306
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [May-Hegglin anomaly: past and present--novel diagnostic test and new concept of the disease].
    Kunishima S
    Rinsho Byori; 2009 Jan; 57(1):54-9. PubMed ID: 19227191
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.
    Kelley MJ; Jawien W; Ortel TL; Korczak JF
    Nat Genet; 2000 Sep; 26(1):106-8. PubMed ID: 10973260
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function.
    Hu A; Wang F; Sellers JR
    J Biol Chem; 2002 Nov; 277(48):46512-7. PubMed ID: 12237319
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.
    Pecci A; Noris P; Invernizzi R; Savoia A; Seri M; Ghiggeri GM; Sartore S; Gangarossa S; Bizzaro N; Balduini CL
    Br J Haematol; 2002 Apr; 117(1):164-7. PubMed ID: 11918549
    [TBL] [Abstract][Full Text] [Related]  

  • 17. High-resolution melting analysis for detection of MYH9 mutations.
    Provaznikova D; Kumstyrova T; Kotlin R; Salaj P; Matoska V; Hrachovinova I; Rittich S
    Platelets; 2008 Sep; 19(6):471-5. PubMed ID: 18925516
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease.
    Sekine T; Konno M; Sasaki S; Moritani S; Miura T; Wong WS; Nishio H; Nishiguchi T; Ohuchi MY; Tsuchiya S; Matsuyama T; Kanegane H; Ida K; Miura K; Harita Y; Hattori M; Horita S; Igarashi T; Saito H; Kunishima S
    Kidney Int; 2010 Jul; 78(2):207-14. PubMed ID: 20200500
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Advances in the understanding of MYH9 disorders.
    Kunishima S; Saito H
    Curr Opin Hematol; 2010 Sep; 17(5):405-10. PubMed ID: 20601875
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes).
    Girolami A; Vettore S; Bonamigo E; Fabris F
    J Thromb Thrombolysis; 2011 Nov; 32(4):474-7. PubMed ID: 21842307
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.