메뉴 건너뛰기




Volumn 91, Issue 7, 2012, Pages 1147-1148

A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AUDIOMETRY; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CATARACT; CHINESE; CLINICAL FEATURE; DISEASE COURSE; DYSURIA; E1841K GENE; FAMILY STUDY; FOCAL GLOMERULONEPHRITIS; GENE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY INJURY; LETTER; MALE; MYH9 GENE; NEPHRITIS; POLLAKISURIA; PRIORITY JOURNAL; PROTEINURIA; THROMBOCYTOPENIA; URINE VOLUME; VITREOUS OPACITY;

EID: 84862764725     PISSN: 09395555     EISSN: 14320584     Source Type: Journal    
DOI: 10.1007/s00277-011-1370-5     Document Type: Letter
Times cited : (8)

References (8)
  • 1
    • 0033822065 scopus 로고    scopus 로고
    • Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly
    • 10973260 10.1038/79069 1:CAS:528:DC%2BD3cXmsVKrsro%3D
    • MJ Kelley W Jawien TL Ortel, et al. 2000 Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly Nat Genet 26 1 106 108 10973260 10.1038/79069 1:CAS:528:DC%2BD3cXmsVKrsro%3D
    • (2000) Nat Genet , vol.26 , Issue.1 , pp. 106-108
    • Kelley, M.J.1    Jawien, W.2    Ortel, T.L.3
  • 2
    • 0033812573 scopus 로고    scopus 로고
    • Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes
    • The May-Hegglin/Fechtner Syndrome Consortium. 10.1038/79063
    • The May-Hegglin/Fechtner Syndrome Consortium 2000 Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes Nat Genet 26 1 103 105 10.1038/79063
    • (2000) Nat Genet , vol.26 , Issue.1 , pp. 103-105
  • 3
    • 0035865524 scopus 로고    scopus 로고
    • Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)
    • 11159552 10.1182/blood.V97.4.1147 1:CAS:528:DC%2BD3MXht1Gis7Y%3D
    • S Kunishima T Kojima T Matsushita, et al. 2001 Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome) Blood 97 15 1147 1149 11159552 10.1182/blood.V97.4.1147 1:CAS:528:DC%2BD3MXht1Gis7Y%3D
    • (2001) Blood , vol.97 , Issue.15 , pp. 1147-1149
    • Kunishima, S.1    Kojima, T.2    Matsushita, T.3
  • 4
    • 0034755959 scopus 로고    scopus 로고
    • Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes
    • 11590545 10.1086/324267 1:CAS:528:DC%2BD3MXotlGitLo%3D
    • KE Heath A Campos-Barros A Toren, et al. 2001 Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes Am J Hum Genet 69 10 1033 1045 11590545 10.1086/324267 1:CAS:528:DC%2BD3MXotlGitLo%3D
    • (2001) Am J Hum Genet , vol.69 , Issue.10 , pp. 1033-1045
    • Heath, K.E.1    Campos-Barros, A.2    Toren, A.3
  • 5
    • 24944506480 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in MYH9-related thrombocytopenia
    • 16098078 10.1111/j.1365-2141.2005.05658.x 1:CAS:528:DC%2BD2MXhtVentb3N
    • F Dong S Li N Pujol-Moix, et al. 2005 Genotype-phenotype correlation in MYH9-related thrombocytopenia Br J Haematol 130 3 620 627 16098078 10.1111/j.1365-2141.2005.05658.x 1:CAS:528:DC%2BD2MXhtVentb3N
    • (2005) Br J Haematol , vol.130 , Issue.3 , pp. 620-627
    • Dong, F.1    Li, S.2    Pujol-Moix, N.3
  • 6
    • 18244406592 scopus 로고    scopus 로고
    • Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions
    • 11776386 10.1007/s100380170007 1:CAS:528:DC%2BD38XltVaquw%3D%3D
    • S Kunishima T Matsushita T Kojima, et al. 2001 Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions J Hum Genet 46 10 722 729 11776386 10.1007/s100380170007 1:CAS:528:DC%2BD38XltVaquw%3D%3D
    • (2001) J Hum Genet , vol.46 , Issue.10 , pp. 722-729
    • Kunishima, S.1    Matsushita, T.2    Kojima, T.3
  • 7
    • 40549091624 scopus 로고    scopus 로고
    • Position of nonmuscle myosin IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease
    • 18059020 10.1002/humu.20661 1:CAS:528:DC%2BD1cXktlahtr8%3D
    • A Pecci E Panza N Pujol-Moix, et al. 2008 Position of nonmuscle myosin IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease Hum Mutat 29 3 409 417 18059020 10.1002/humu.20661 1:CAS:528: DC%2BD1cXktlahtr8%3D
    • (2008) Hum Mutat , vol.29 , Issue.3 , pp. 409-417
    • Pecci, A.1    Panza, E.2    Pujol-Moix, N.3
  • 8
    • 0037245023 scopus 로고    scopus 로고
    • Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: Association of subcellular localization with MYH9 mutations
    • 12533692 1:CAS:528:DC%2BD3sXis1ehtw%3D%3D
    • S Kunishima T Matsushita T Kojima, et al. 2003 Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations Lab Invest 83 1 115 122 12533692 1:CAS:528:DC%2BD3sXis1ehtw%3D%3D
    • (2003) Lab Invest , vol.83 , Issue.1 , pp. 115-122
    • Kunishima, S.1    Matsushita, T.2    Kojima, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.