-
2
-
-
0035986783
-
Inherited thrombocytopenias: From genes to therapy
-
Balduini, C. L., A. Iolascon, and A. Savoia. 2002. Inherited thrombocytopenias: from genes to therapy. Haematologica 87:860–880.
-
(2002)
Haematologica
, vol.87
, pp. 860-880
-
-
Balduini, C.L.1
Iolascon, A.2
Savoia, A.3
-
3
-
-
79959848995
-
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias
-
Balduini, C. L., A. Pecci, and A. Savoia. 2011. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br. J. Haematol. 154:161–174.
-
(2011)
Br. J. Haematol.
, vol.154
, pp. 161-174
-
-
Balduini, C.L.1
Pecci, A.2
Savoia, A.3
-
4
-
-
84873574524
-
Inherited thrombocytopenias: The evolving spectrum
-
Balduini, C. L., A. Pecci, and P. Noris. 2012. Inherited thrombocytopenias: the evolving spectrum. Hamostaseologie 32:259–270.
-
(2012)
Hamostaseologie
, vol.32
, pp. 259-270
-
-
Balduini, C.L.1
Pecci, A.2
Noris, P.3
-
5
-
-
84883812759
-
Inherited thrombocytopenias frequently diagnosed in adults
-
Balduini, C. L., A. Savoia, and M. Seri. 2013. Inherited thrombocytopenias frequently diagnosed in adults. J. Thromb. Haemost. 11:1006–1019.
-
(2013)
J. Thromb. Haemost.
, vol.11
, pp. 1006-1019
-
-
Balduini, C.L.1
Savoia, A.2
Seri, M.3
-
6
-
-
0346656633
-
Double nucleotidic mutation of the MYH9 gene in a young patient with end-stage renal disease
-
Capria, M., M. Andreucci, L. Fuiano, D. Mancuso, P. Cianfrone, N. Comi, et al. 2004. Double nucleotidic mutation of the MYH9 gene in a young patient with end-stage renal disease. Nephrol. Dial. Transplant. 19:249–251.
-
(2004)
Nephrol. Dial. Transplant.
, vol.19
, pp. 249-251
-
-
Capria, M.1
Andreucci, M.2
Fuiano, L.3
Mancuso, D.4
Cianfrone, P.5
Comi, N.6
-
7
-
-
84889680028
-
The abnormal proplatelet formation in MYH9-related macrothrombocytopenia results from an increased actomyosin contractility and is rescued by myosin IIA inhibition
-
Chen, Y., S. Boukour, R. Milloud, R. Favier, B. Saposnik, and N. Schlegel, et al. 2013. The abnormal proplatelet formation in MYH9-related macrothrombocytopenia results from an increased actomyosin contractility and is rescued by myosin IIA inhibition. J. Thromb. Haemost. 11:2163–2165.
-
(2013)
J. Thromb. Haemost.
, vol.11
, pp. 2163-2165
-
-
Chen, Y.1
Boukour, S.2
Milloud, R.3
Favier, R.4
Saposnik, B.5
Schlegel, N.6
-
8
-
-
84871699930
-
MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
-
De Rocco, D., B. Zieger, H. Platokouki, P. G. Heller, A. Pastore, R. Bottega, et al. 2013. MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. Eur. J. Med. Genet. 56:7–12.
-
(2013)
Eur. J. Med. Genet.
, vol.56
, pp. 7-12
-
-
de Rocco, D.1
Zieger, B.2
Platokouki, H.3
Heller, P.G.4
Pastore, A.5
Bottega, R.6
-
9
-
-
24944506480
-
Genotype-phenotype correlation in MYH9-related thrombocytopenia
-
Dong, F., S. Li, N. Pujol-Moix, N. L. C. Luban, S. Won Shin, J. H. Seo, et al. 2005. Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br. J. Haematol. 130:620–627.
-
(2005)
Br. J. Haematol.
, vol.130
, pp. 620-627
-
-
Dong, F.1
Li, S.2
Pujol-Moix, N.3
Luban, N.L.C.4
Won Shin, S.5
Seo, J.H.6
-
10
-
-
11144225866
-
Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly
-
Franke, J. D., F. Dong, W. L. Rickoll, M. J. Kelley, and D. P. Kiehart. 2005. Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly. Blood 105:161–169.
-
(2005)
Blood
, vol.105
, pp. 161-169
-
-
Franke, J.D.1
Dong, F.2
Rickoll, W.L.3
Kelley, M.J.4
Kiehart, D.P.5
-
11
-
-
84865222824
-
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
-
Glembotsky, A. C., R. F. Marta, A. Pecci, D. De Rocco, C. Gnan, Y. R. Espasandin, et al. 2012. International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country. J. Thromb. Haemost. 10:1653–1661.
-
(2012)
J. Thromb. Haemost.
, vol.10
, pp. 1653-1661
-
-
Glembotsky, A.C.1
Marta, R.F.2
Pecci, A.3
de Rocco, D.4
Gnan, C.5
Espasandin, Y.R.6
-
12
-
-
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., A. Campos-Barros, A. Toren, G. Rozenfeld-Granot, L. E. Carlsson, J. Savige, 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. 69:1033–1045.
-
(2001)
Am. J. Hum. Genet.
, 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
-
13
-
-
33845474101
-
Cochlear implants for DFNA17 deafness
-
Hildebrand, M. S., M. G. de Silva, R. J. Gardner, E. Rose, C. A. de Graaf, M. Bahlo, et al. 2006. Cochlear implants for DFNA17 deafness. Laryngoscope 116:2211–2215.
-
(2006)
Laryngoscope
, vol.116
, pp. 2211-2215
-
-
Hildebrand, M.S.1
de Silva, M.G.2
Gardner, R.J.3
Rose, E.4
de Graaf, C.A.5
Bahlo, M.6
-
14
-
-
84884525881
-
Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: Case report and review of the literature
-
Ishida, M., Y. Mori, N. Ota, T. Inaba, and S. Kunishima. 2012. Association of a novel in-frame deletion mutation of the MYH9 gene with end-stage renal failure: case report and review of the literature. Clin. Nephrol. 80:218–222.
-
(2012)
Clin. Nephrol.
, vol.80
, pp. 218-222
-
-
Ishida, M.1
Mori, Y.2
Ota, N.3
Inaba, T.4
Kunishima, S.5
-
15
-
-
84859766750
-
Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly
-
Jang, M. J., H. J. Park, S. Y. Chong, J. Y. Huh, I. H. Kim, J. H. Jang, et al. 2012. Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly. Yonsei Med. J. 53:662–666.
-
(2012)
Yonsei Med. J.
, vol.53
, pp. 662-666
-
-
Jang, M.J.1
Park, H.J.2
Chong, S.Y.3
Huh, J.Y.4
Kim, I.H.5
Jang, J.H.6
-
16
-
-
18244406592
-
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions
-
Kunishima, S., T. Matsushita, T. Kojima, N. Amemiya, Y. M. Choi, N. Hosaka, et al. 2001. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J. Hum. Genet. 46:722–729.
-
(2001)
J. Hum. Genet.
, vol.46
, pp. 722-729
-
-
Kunishima, S.1
Matsushita, T.2
Kojima, T.3
Amemiya, N.4
Choi, Y.M.5
Hosaka, N.6
-
17
-
-
0037245023
-
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH 9 disorders: Association of subcellular localization with MYH9 mutations
-
Kunishima, S., T. Matsushita, T. Kojima, M. Sako, F. Kimura, E. K. Jo, et al. 2003. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH 9 disorders: association of subcellular localization with MYH9 mutations. Lab. Invest. 83:115–122.
-
(2003)
Lab. Invest.
, vol.83
, pp. 115-122
-
-
Kunishima, S.1
Matsushita, T.2
Kojima, T.3
Sako, M.4
Kimura, F.5
Jo, E.K.6
-
18
-
-
13444273007
-
First description of somatic mosaicism in MYH9 disorders
-
Kunishima, S., T. Matsushita, T. Yoshihara, Y. Nakase, K. Yokoi, M. Hamaguchi, et al. 2005. First description of somatic mosaicism in MYH9 disorders. Br. J. Haematol. 128:360–365.
-
(2005)
Br. J. Haematol.
, vol.128
, pp. 360-365
-
-
Kunishima, S.1
Matsushita, T.2
Yoshihara, T.3
Nakase, Y.4
Yokoi, K.5
Hamaguchi, M.6
-
19
-
-
33846963188
-
Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations
-
Kunishima, S., M. Yoshinari, H. Nishio, K. Ida, T. Miura, T. Matsushita, et al. 2007. Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations. Eur. J. Haematol. 78:220–226.
-
(2007)
Eur. J. Haematol.
, vol.78
, pp. 220-226
-
-
Kunishima, S.1
Yoshinari, M.2
Nishio, H.3
Ida, K.4
Miura, T.5
Matsushita, T.6
-
20
-
-
43549084398
-
Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders
-
Kunishima, S., T. Matsushita, M. Hamaguchi, and H. Saito. 2008. Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders. Eur. J. Haematol. 80:540–544.
-
(2008)
Eur. J. Haematol.
, vol.80
, pp. 540-544
-
-
Kunishima, S.1
Matsushita, T.2
Hamaguchi, M.3
Saito, H.4
-
21
-
-
63149130853
-
Germinal mosaicism in MYH9 disorders: A family with two affected siblings of normal parents
-
Kunishima, S., K. Takaki, Y. Ito, and H. Saito. 2009. Germinal mosaicism in MYH9 disorders: a family with two affected siblings of normal parents. Br. J. Haematol. 145:260–262.
-
(2009)
Br. J. Haematol.
, vol.145
, pp. 260-262
-
-
Kunishima, S.1
Takaki, K.2
Ito, Y.3
Saito, H.4
-
22
-
-
84869876048
-
G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: Comment on “A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton” by Vettore, et al
-
Kunishima, S., T. Tomii, K. Kudo, H. Saito, 2012. G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: comment on “A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton” by Vettore, et al. Eur. J. Med. Genet. 55:763–765.
-
(2012)
Eur. J. Med. Genet.
, vol.55
, pp. 763-765
-
-
Kunishima, S.1
Tomii, T.2
Kudo, K.3
Saito, H.4
-
23
-
-
0033764817
-
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9
-
Lalwani, A. K., J. A. Goldstein, M. J. Kelley, W. Luxford, C. M. Castelein, and A. N. Mhatre. 2000. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am. J. Hum. Genet. 67:1121–1128.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1121-1128
-
-
Lalwani, A.K.1
Goldstein, J.A.2
Kelley, M.J.3
Luxford, W.4
Castelein, C.M.5
Mhatre, A.N.6
-
24
-
-
84860227260
-
Mean platelet volume: Comparison of three analysers towards standardization of platelet morphological phenotype
-
Latger-Cannard, V., M. Hoarau, S. Salignac, D. Baumgart, P. Nurden, and T. Lecompte. 2012. Mean platelet volume: comparison of three analysers towards standardization of platelet morphological phenotype. Int. J. Lab. Hematol. 34:300–310.
-
(2012)
Int. J. Lab. Hematol.
, vol.34
, pp. 300-310
-
-
Latger-Cannard, V.1
Hoarau, M.2
Salignac, S.3
Baumgart, D.4
Nurden, P.5
Lecompte, T.6
-
25
-
-
84877153941
-
Platelet morphology analysis
-
in P. Monagle, ed., Springer, New York, NY
-
Latger-Cannard, V., O. Fenneteau, S. Salignac, T. P. Lecompte, and N. Schlegel. 2013. Platelet morphology analysis. Pp. 207–225 in P. Monagle, ed. Haemostasis: methods and protocols, methods in molecular biology, Vol. 992. Springer, New York, NY.
-
(2013)
Haemostasis: Methods and Protocols, Methods in Molecular Biology
, vol.992
, pp. 207-225
-
-
Latger-Cannard, V.1
Fenneteau, O.2
Salignac, S.3
Lecompte, T.P.4
Schlegel, N.5
-
26
-
-
61349086614
-
Identification of the first in cis mutations in MYH9 disorder
-
Miyajima, Y., and S. Kunishima. 2009. Identification of the first in cis mutations in MYH9 disorder. Eur. J. Haematol. 82:288–291.
-
(2009)
Eur. J. Haematol.
, vol.82
, pp. 288-291
-
-
Miyajima, Y.1
Kunishima, S.2
-
27
-
-
77449122813
-
Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia
-
Noris, P., C. Klersy, M. Zecca, L. Arcaini, A. Pecci, F. Melazzini, et al. 2009. Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia. J. Thromb. Haemost. 7:2131–2136.
-
(2009)
J. Thromb. Haemost.
, vol.7
, pp. 2131-2136
-
-
Noris, P.1
Klersy, C.2
Zecca, M.3
Arcaini, L.4
Pecci, A.5
Melazzini, F.6
-
28
-
-
84879114340
-
Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: A multicentric, real life study
-
Noris, P., C. Klersy, P. Gresele, F. Giona, P. Giordano, P. Minuz, et al. 2013. Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study. Br. J. Haematol. 162:112–119.
-
(2013)
Br. J. Haematol.
, vol.162
, pp. 112-119
-
-
Noris, P.1
Klersy, C.2
Gresele, P.3
Giona, F.4
Giordano, P.5
Minuz, P.6
-
29
-
-
40549091624
-
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MH9-related disease
-
Pecci, A., E. Panza, N. Pujol-Moix, C. Klersy, F. Di Bari, V. Bozzi, et al. 2008. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MH9-related disease. Hum. Mutat. 29:409–417.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 409-417
-
-
Pecci, A.1
Panza, E.2
Pujol-Moix, N.3
Klersy, C.4
Di Bari, F.5
Bozzi, V.6
-
30
-
-
84899062743
-
Myosin IIA is critical for organelle distribution and F-actin organization in megakaryocytes and platelets
-
Pertuy, F., A. Eckly, J. Weber, F. Proamer, J. Y. Rinckel, and F. Lanza, et al. 2013. Myosin IIA is critical for organelle distribution and F-actin organization in megakaryocytes and platelets. Blood. doi: 10.1182/blood-2013-06-508168
-
(2013)
Blood
-
-
Pertuy, F.1
Eckly, A.2
Weber, J.3
Proamer, F.4
Rinckel, J.Y.5
Lanza, F.6
-
31
-
-
65649136971
-
May-Hegglin Anomaly: Morphologic and clinical manifestations
-
Saito, H., and S. Kunishima. 2009. May-Hegglin Anomaly: morphologic and clinical manifestations. Clin. Adv. Hematol. Oncol. 7:111–113.
-
(2009)
Clin. Adv. Hematol. Oncol.
, vol.7
, pp. 111-113
-
-
Saito, H.1
Kunishima, S.2
-
32
-
-
77952080537
-
Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
-
Savoia, A., D. De Rocco, E. Panza, V. Bozzi, R. Scandellari, G. Loffredo, et al. 2010. Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb. Haemost. 103:826–832.
-
(2010)
Thromb. Haemost.
, vol.103
, pp. 826-832
-
-
Savoia, A.1
de Rocco, D.2
Panza, E.3
Bozzi, V.4
Scandellari, R.5
Loffredo, G.6
-
33
-
-
0034677906
-
Myosins: A diverse superfamily
-
Sellers, J. R. 2000. Myosins: a diverse superfamily. Biochim. Biophys. Acta 1496:3–22.
-
(2000)
Biochim. Biophys. Acta
, vol.1496
, pp. 3-22
-
-
Sellers, J.R.1
-
34
-
-
0033812573
-
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin/Fechtner Syndrome Consortium
-
Seri, M., R. Cusano, S. Gangarossa, G. Caridi, D. Bordo, C. Lo Nigro, et al. 2000. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin/Fechtner Syndrome Consortium. Nat. Genet. 26:103–105.
-
(2000)
Nat. Genet.
, vol.26
, pp. 103-105
-
-
Seri, M.1
Cusano, R.2
Gangarossa, S.3
Caridi, G.4
Bordo, D.5
Lo Nigro, C.6
-
35
-
-
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., A. Pecci, F. Di Bari, R. Cusano, M. Savino, E. Panza, et al. 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 (Baltimore) 82:203– 215.
-
(2003)
Medicine (Baltimore)
, vol.82
, pp. 203-215
-
-
Seri, M.1
Pecci, A.2
Di Bari, F.3
Cusano, R.4
Savino, M.5
Panza, E.6
-
37
-
-
84870291166
-
Clinical, pathological and genetic analysis of ten patients with MYH9-related disease
-
Sun, X. H., Z. Y. Wang, H. Y. Yang, L. J. Cao, J. Su, and Z. Q. Yu, et al. 2013. Clinical, pathological and genetic analysis of ten patients with MYH9-related disease. Acta Haematol. 129:106–113.
-
(2013)
Acta Haematol
, vol.129
, pp. 106-113
-
-
Sun, X.H.1
Wang, Z.Y.2
Yang, H.Y.3
Cao, L.J.4
Su, J.5
Yu, Z.Q.6
|