-
1
-
-
0001864115
-
Leukozyteneinschlusse
-
May R. Leukozyteneinschlusse. Dtsch Arch Klin Med 1909 96: 1 6.
-
(1909)
Dtsch Arch Klin Med
, vol.96
, pp. 1-6
-
-
May, R.1
-
2
-
-
84866470520
-
Gleichzeitige konstitutionelle Veranderungen an Neutrophilen und Thrombocyten
-
Hegglin R. Gleichzeitige konstitutionelle Veranderungen an Neutrophilen und Thrombocyten. Helv Med Acta 1945 12: 439 40.
-
(1945)
Helv Med Acta
, vol.12
, pp. 439-40
-
-
Hegglin, R.1
-
3
-
-
41549124665
-
Historical hematology: May-Hegglin anomaly
-
Saito H, Kunishima S. Historical hematology: May-Hegglin anomaly. Am J Hematol 2008 83: 304 6.
-
(2008)
Am J Hematol
, vol.83
, pp. 304-6
-
-
Saito, H.1
Kunishima, S.2
-
4
-
-
0033812573
-
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, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet 2000 26: 103 5.
-
(2000)
Nat Genet
, vol.26
, pp. 103-5
-
-
Seri, M.1
Cusano, R.2
Gangarossa, S.3
-
5
-
-
0033822065
-
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly
-
Kelley MJ, Jawien W, Ortel TL, Korczak JF. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 2000 26: 106 8.
-
(2000)
Nat Genet
, vol.26
, pp. 106-8
-
-
Kelley, M.J.1
Jawien, W.2
Ortel, T.L.3
Korczak, J.F.4
-
6
-
-
0035865524
-
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)
-
Kunishima S, Kojima T, Matsushita T, et al. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood 2001 97: 1147 9.
-
(2001)
Blood
, vol.97
, pp. 1147-9
-
-
Kunishima, S.1
Kojima, T.2
Matsushita, T.3
-
7
-
-
0034755959
-
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, et al. 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 2001 69: 1033 45.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1033-45
-
-
Heath, K.E.1
Campos-Barros, A.2
Toren, A.3
-
8
-
-
18244406592
-
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions
-
Kunishima S, Matsushita T, Kojima T, et al. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet 2001 46: 722 9.
-
(2001)
J Hum Genet
, vol.46
, pp. 722-9
-
-
Kunishima, S.1
Matsushita, T.2
Kojima, T.3
-
9
-
-
0037910378
-
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, 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. Medicine (Baltimore) 2003 82:203 15.
-
(2003)
Medicine (Baltimore)
, vol.82
, pp. 203-15
-
-
Seri, M.1
Pecci, A.2
Di Bari, F.3
-
10
-
-
24944506480
-
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. Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br J Haematol 2005 130:620 7.
-
(2005)
Br J Haematol
, vol.130
, pp. 620-7
-
-
Dong, F.1
Li, S.2
Pujol-Moix, N.3
Luban, N.L.4
Shin, S.W.5
Seo, J.H.6
Ruiz-Saez, A.7
Demeter, J.8
Langdon, S.9
Kelley, M.J.10
-
11
-
-
40549091624
-
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease
-
Pecci A, Panza E, Pujol-Moix N, et al. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 2008 29:409 17.
-
(2008)
Hum Mutat
, vol.29
, pp. 409-17
-
-
Pecci, A.1
Panza, E.2
Pujol-Moix, N.3
-
12
-
-
0037245023
-
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: Association of subcellular localization with MYH9 mutations
-
Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, Inoue C, Kamiya T, Saito H. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest 2003 83:115 22.
-
(2003)
Lab Invest
, vol.83
, pp. 115-22
-
-
Kunishima, S.1
Matsushita, T.2
Kojima, T.3
Sako, M.4
Kimura, F.5
Jo, E.K.6
Inoue, C.7
Kamiya, T.8
Saito, H.9
-
13
-
-
0043264447
-
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs
-
Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat 2003 22:229 44.
-
(2003)
Hum Mutat
, vol.22
, pp. 229-44
-
-
Abeysinghe, S.S.1
Chuzhanova, N.2
Krawczak, M.3
Ball, E.V.4
Cooper, D.N.5
-
16
-
-
42449140234
-
Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders
-
in press.
-
Kunishima S, Hamaguchi M, Saito H. Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders. Blood in press.
-
Blood
-
-
Kunishima, S.1
Hamaguchi, M.2
Saito, H.3
-
17
-
-
0037480960
-
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. Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. Blood 2003 102:529 34.
-
(2003)
Blood
, vol.102
, pp. 529-34
-
-
Deutsch, S.1
Rideau, A.2
Bochaton-Piallat, M.L.3
Merla, G.4
Geinoz, A.5
Gabbiani, G.6
Schwede, T.7
Matthes, T.8
Antonarakis, S.E.9
Beris, P.10
-
18
-
-
27744521855
-
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations
-
Pecci A, Canobbio I, Balduini A, Stefanini L, Cisterna B, Marseglia C, Noris P, Savoia A, Balduini CL, Torti M. Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. Hum Mol Genet 2005 14:3169 78.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3169-78
-
-
Pecci, A.1
Canobbio, I.2
Balduini, A.3
Stefanini, L.4
Cisterna, B.5
Marseglia, C.6
Noris, P.7
Savoia, A.8
Balduini, C.L.9
Torti, M.10
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