-
1
-
-
0036138503
-
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., Grunfeld, J.P., Gubler, M.C., Antignac, C. & Heidet, L. (2002) Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. Journal of the American Society of Nephrology, 13, 65-74.
-
(2002)
Journal of the American Society of Nephrology
, vol.13
, pp. 65-74
-
-
Arrondel, C.1
Vodovar, N.2
Knebelmann, B.3
Grunfeld, J.P.4
Gubler, M.C.5
Antignac, C.6
Heidet, L.7
-
2
-
-
0038649068
-
Misdiagnosis of chronic thrombocytopenia in childhood
-
Bader-Meunier, B., Proulle, V., Trichet, C., Debray, D., Gabolde, M., Yvart, J. & Dreyfus, M. (2003) Misdiagnosis of chronic thrombocytopenia in childhood. Journal of Pediatric Hematology/Oncology, 25, 548-552.
-
(2003)
Journal of Pediatric Hematology/Oncology
, vol.25
, pp. 548-552
-
-
Bader-Meunier, B.1
Proulle, V.2
Trichet, C.3
Debray, D.4
Gabolde, M.5
Yvart, J.6
Dreyfus, M.7
-
3
-
-
0025606519
-
Sebastian platelet syndrome: A new variant of hereditary macrothrombocytopenia with leucocyte inclusions
-
Greinacher, A., Nieuwenhuis, H.K. & White, J.G. (1990) Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leucocyte inclusions. Blut, 61, 282-288.
-
(1990)
Blut
, vol.61
, pp. 282-288
-
-
Greinacher, A.1
Nieuwenhuis, H.K.2
White, J.G.3
-
4
-
-
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, K.E., Campos-Barros, A., Toren, A., Rozenfeld-Granot, G., Carlsson, L.E., Savige, J., Denison, J.C., Gregory, M.C., White, J.G., Barker, D.F., Greinacher, A., Epstein, C.J., Glucksman, M.J. & Martignetti, J.A. (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. American Journal of Human Genetics, 69, 1033-1045.
-
(2001)
American Journal of Human Genetics
, vol.69
, pp. 1033-1045
-
-
Heath, K.E.1
Campos-Barros, A.2
Toren, A.3
Rozenfeld-Granot, G.4
Carlsson, L.E.5
Savige, J.6
Denison, J.C.7
Gregory, M.C.8
White, J.G.9
Barker, D.F.10
Greinacher, A.11
Epstein, C.J.12
Glucksman, M.J.13
Martignetti, J.A.14
-
5
-
-
84866470520
-
Gleichzeitige konstitutionelle veranderungen an neutrophilen und thrombocyten
-
Hegglin, R. (1945) Gleichzeitige konstitutionelle Veranderungen an Neutrophilen und Thrombocyten. Helvetica Medica Acta, 12, 439-440.
-
(1945)
Helvetica Medica Acta
, vol.12
, pp. 439-440
-
-
Hegglin, R.1
-
6
-
-
0033822065
-
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly
-
Kelley, M.J., Jawien, W., Ortel, T.L. & Korczak, J.F. (2000) Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nature Genet, 26, 106-108.
-
(2000)
Nature Genet
, vol.26
, pp. 106-108
-
-
Kelley, M.J.1
Jawien, W.2
Ortel, T.L.3
Korczak, J.F.4
-
7
-
-
18744422146
-
Germline origins in the human F9 gene: Frequent G:C→A:T mosaicism and increased mutations with advanced maternal age
-
Ketterling, R.P., Vielhaber, E., Li, X., Drost, J., Schaid, D.J., Kasper, C.K., Phillips, J.A., III., Koerper, M.A., Kim, H., Sexauer, C., Gruppo, R., Ambriz, R., Paredes, R. & Sommer, S.S. (1999) Germline origins in the human F9 gene: frequent G:C→A:T mosaicism and increased mutations with advanced maternal age. Human Genetics, 105, 629-640.
-
(1999)
Human Genetics
, vol.105
, pp. 629-640
-
-
Ketterling, R.P.1
Vielhaber, E.2
Li, X.3
Drost, J.4
Schaid, D.J.5
Kasper, C.K.6
Phillips III, J.A.7
Koerper, M.A.8
Kim, H.9
Sexauer, C.10
Gruppo, R.11
Ambriz, R.12
Paredes, R.13
Sommer, S.S.14
-
8
-
-
0030748525
-
De novo mutation of the platelet glycoprotein Ibα gene in a patient with pseudo-von Willebrand disease
-
Kunishima, S., Heaton, D.C., Naoe, T., Hickton, C., Mizuno, S., Saito, H. & Kamiya, T. (1997) De novo mutation of the platelet glycoprotein Ibα gene in a patient with pseudo-von Willebrand disease. Blood Coagulation and Fibrinolysis, 8, 311-315.
-
(1997)
Blood Coagulation and Fibrinolysis
, vol.8
, pp. 311-315
-
-
Kunishima, S.1
Heaton, D.C.2
Naoe, T.3
Hickton, C.4
Mizuno, S.5
Saito, H.6
Kamiya, T.7
-
9
-
-
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., Tanaka, T., Tsurusawa, M., Furukawa, Y., Nakamura, Y., Okamura, T., Amemiya, N., Nakayama, T., Kamiya, T. & Saito, H. (2001a) Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood, 97, 1147-1149.
-
(2001)
Blood
, vol.97
, pp. 1147-1149
-
-
Kunishima, S.1
Kojima, T.2
Matsushita, T.3
Tanaka, T.4
Tsurusawa, M.5
Furukawa, Y.6
Nakamura, Y.7
Okamura, T.8
Amemiya, N.9
Nakayama, T.10
Kamiya, T.11
Saito, H.12
-
10
-
-
18244406592
-
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, Y.M., Hosaka, N., Inoue, M., Jung, Y., Mamiya, S., Matsumoto, K., Miyajima, Y., Ruan, C., Saito, K., Song, K.S., Yoon, H.J., Kamiya, T. & Saito, H. (2001b) Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. Journal of Human Genetics, 46, 722-729.
-
(2001)
Journal of Human Genetics
, vol.46
, pp. 722-729
-
-
Kunishima, S.1
Matsushita, T.2
Kojima, T.3
Amemiya, N.4
Choi, Y.M.5
Hosaka, N.6
Inoue, M.7
Jung, Y.8
Mamiya, S.9
Matsumoto, K.10
Miyajima, Y.11
Ruan, C.12
Saito, K.13
Song, K.S.14
Yoon, H.J.15
Kamiya, T.16
Saito, H.17
-
11
-
-
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, E.K., Inoue, T., Kamiya, T. & Saito, H. (2003) Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Laboratory Investigation, 83, 115-122.
-
(2003)
Laboratory Investigation
, vol.83
, pp. 115-122
-
-
Kunishima, S.1
Matsushita, T.2
Kojima, T.3
Sako, M.4
Kimura, F.5
Jo, E.K.6
Inoue, T.7
Kamiya, T.8
Saito, H.9
-
12
-
-
12444283806
-
Detection of unique neutrophil nonmuscle myosin heavy chain - A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness
-
Kunishima, S., Matsushita, T., Shiratsuchi, M., Ikuta, T., Nishimura, J., Hamaguchi, M., Naoe, T. & Saito, H. (2005) Detection of unique neutrophil nonmuscle myosin heavy chain - A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness. European Journal of Haematology, 74, 1-5.
-
(2005)
European Journal of Haematology
, vol.74
, pp. 1-5
-
-
Kunishima, S.1
Matsushita, T.2
Shiratsuchi, M.3
Ikuta, T.4
Nishimura, J.5
Hamaguchi, M.6
Naoe, T.7
Saito, H.8
-
13
-
-
0034972486
-
Somatic mosaicism in hemophilia A: A fairly common event
-
Leuer, M., Oldenburg, J., Lavergne, J.M., Ludwig, M., Fregin, A., Eigel, A., Ljung, R., Goodeve, A., Peake, I. & Olek, K. (2001) Somatic mosaicism in hemophilia A: a fairly common event. American Journal of Human Genetics, 69, 75-87.
-
(2001)
American Journal of Human Genetics
, vol.69
, pp. 75-87
-
-
Leuer, M.1
Oldenburg, J.2
Lavergne, J.M.3
Ludwig, M.4
Fregin, A.5
Eigel, A.6
Ljung, R.7
Goodeve, A.8
Peake, I.9
Olek, K.10
-
15
-
-
0031894136
-
Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): Clinical and laboratory findings
-
Noris, P., Spedini, P., Belletti, S., Magrini, U. & Balduini, C.L. (1998) Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings. American Journal of Medicine, 104, 355-360.
-
(1998)
American Journal of Medicine
, vol.104
, pp. 355-360
-
-
Noris, P.1
Spedini, P.2
Belletti, S.3
Magrini, U.4
Balduini, C.L.5
-
16
-
-
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., Cusano, R., Savino, M., Panza, E., Nigro, A., Noris, P., Gangarossa, S., Rocca, B., Gresele, P., Bizzaro, N., Malatesta, P., Koivisto, P.A., Longo, I., Musso, R., Pecoraro, C., Iolascon, A., Magrini, U., Soriano, J.R., Renieri, A., Ghiggeri, G.M., Ravazzolo, R., Balduini, C.L. & Savoia, A. (2003) 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, 82, 203-215.
-
(2003)
Medicine
, vol.82
, pp. 203-215
-
-
Seri, M.1
Pecci, A.2
Di Bari, F.3
Cusano, R.4
Savino, M.5
Panza, E.6
Nigro, A.7
Noris, P.8
Gangarossa, S.9
Rocca, B.10
Gresele, P.11
Bizzaro, N.12
Malatesta, P.13
Koivisto, P.A.14
Longo, I.15
Musso, R.16
Pecoraro, C.17
Iolascon, A.18
Magrini, U.19
Soriano, J.R.20
Renieri, A.21
Ghiggeri, G.M.22
Ravazzolo, R.23
Balduini, C.L.24
Savoia, A.25
more..
-
17
-
-
0033812573
-
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes
-
The May-Hegglin/Fechtner Syndrome Consortium (2000) Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nature Genetics, 26, 103-105.
-
(2000)
Nature Genetics
, vol.26
, pp. 103-105
-
-
-
18
-
-
13444280637
-
A case of MYH9 disorder with 5818delG
-
Yokoi, K., Yoshihara, T., Nakase, Y., Nakai, N., Imamura, T., Ishida, H., Kasubuchi, Y., Matsushita, T. & Kunishima, S. (2004) A case of MYH9 disorder with 5818delG. Journal of Japan Pediatric Society, 108, 1142-1145.
-
(2004)
Journal of Japan Pediatric Society
, vol.108
, pp. 1142-1145
-
-
Yokoi, K.1
Yoshihara, T.2
Nakase, Y.3
Nakai, N.4
Imamura, T.5
Ishida, H.6
Kasubuchi, Y.7
Matsushita, T.8
Kunishima, S.9
-
19
-
-
4544283893
-
A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: A case report
-
Yoshinari, M., Kunishima, S., Miyabayashi, S., Saito, H. & Tsuchiya, S. (2004) A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case report. Journal of Pediatric Hematology/Oncology, 26, 579-583.
-
(2004)
Journal of Pediatric Hematology/Oncology
, vol.26
, pp. 579-583
-
-
Yoshinari, M.1
Kunishima, S.2
Miyabayashi, S.3
Saito, H.4
Tsuchiya, S.5
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