PubRank

Toshio Miyawaki

Author PubWeight™ 101.49‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity 2006 4.75
2 Suppressor of cytokine signalling-1 gene silencing in acute myeloid leukaemia and human haematopoietic cell lines. Br J Haematol 2004 1.70
3 Expression of myeloid-related protein-8 and -14 in patients with acute Kawasaki disease. J Am Coll Cardiol 2006 1.65
4 Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Am J Hum Genet 2002 1.64
5 Identification of FOXP3-negative regulatory T-like (CD4(+)CD25(+)CD127(low)) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Clin Immunol 2011 1.57
6 Serine racemase is predominantly localized in neurons in mouse brain. J Comp Neurol 2008 1.57
7 SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis. Pediatr Int 2012 1.46
8 Genetic analysis of patients with defects in early B-cell development. Immunol Rev 2005 1.41
9 Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. Mol Genet Metab 2006 1.33
10 Absence of memory B cells in patients with common variable immunodeficiency. Clin Immunol 2002 1.30
11 Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab 2002 1.28
12 S100A12 (EN-RAGE) in monitoring Kawasaki disease. Lancet 2003 1.21
13 Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards. J Pediatr 2009 1.15
14 Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects. J Allergy Clin Immunol 2011 1.13
15 Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. Blood 2005 1.13
16 Membranoproliferative glomerulonephritis in a patient with X-linked agammaglobulinemia. Pediatr Nephrol 2005 1.07
17 Relapsing Campylobacter coli bacteremia with reactive arthritis in a patient with X-linked agammaglobulinemia. Intern Med 2007 1.06
18 Effective use of corticosteroid in a child with life-threatening plastic bronchitis after Fontan operation. Pediatr Int 2003 1.05
19 Biological aspects of Epstein-Barr virus (EBV)-infected lymphocytes in chronic active EBV infection and associated malignancies. Crit Rev Oncol Hematol 2002 1.04
20 Toll-like receptor signaling is impaired in dendritic cells from patients with X-linked agammaglobulinemia. Clin Immunol 2008 1.02
21 Impaired neuroanatomic development in infants with congenital heart disease. J Thorac Cardiovasc Surg 2008 1.00
22 Clinical and genetic characteristics of XIAP deficiency in Japan. J Clin Immunol 2012 1.00
23 Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan. Br J Haematol 2006 0.99
24 Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan. Int J Hematol 2009 0.99
25 Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations. Clin Immunol 2007 0.98
26 Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection. Int Immunol 2002 0.97
27 RAPID: Resource of Asian Primary Immunodeficiency Diseases. Nucleic Acids Res 2008 0.97
28 Acute Kawasaki disease is associated with reverse regulation of soluble receptor for advance glycation end products and its proinflammatory ligand S100A12. Arthritis Rheum 2007 0.96
29 Predominance of Th2-promoting dendritic cells in early human pregnancy decidua. J Leukoc Biol 2003 0.96
30 Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death. Mol Genet Metab 2010 0.95
31 Role of transforming growth factor-beta in breast milk for initiation of IgA production in newborn infants. Early Hum Dev 2004 0.94
32 Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. Am J Med Genet 2002 0.93
33 Nutcracker phenomenon in two siblings of a Japanese family. Pediatr Nephrol 2005 0.92
34 Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Nephrol 2009 0.92
35 Effect of the VKORC1 genotype on warfarin dose requirements in Japanese pediatric patients. Drug Metab Pharmacokinet 2011 0.92
36 Novel anticytomegalovirus activity of immunosuppressant mizoribine and its synergism with ganciclovir. J Pharmacol Exp Ther 2010 0.92
37 Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol 2011 0.91
38 IgA nephropathy associated with X-linked thrombocytopenia. Am J Kidney Dis 2004 0.90
39 Neutrophil-derived S100A12 is profoundly upregulated in the early stage of acute Kawasaki disease. Am J Cardiol 2004 0.89
40 Enhanced iNOS expression in leukocytes and circulating endothelial cells is associated with the progression of coronary artery lesions in acute Kawasaki disease. Pediatr Res 2004 0.88
41 [A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease]. Nihon Rinsho Meneki Gakkai Kaishi 2003 0.88
42 A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. Haematologica 2009 0.88
43 Characterization of granulocyte colony-stimulating factor receptor expressed on human lymphocytes. Br J Haematol 2002 0.88
44 Identification of an SH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency. Int J Hematol 2003 0.87
45 Expansion of FOXP3-positive CD4+CD25+ T cells associated with disease activity in atopic dermatitis. Ann Allergy Asthma Immunol 2009 0.87
46 Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype-phenotype correlations. Blood Cells Mol Dis 2003 0.86
47 Early lineage switch in an infant acute lymphoblastic leukemia. Int J Hematol 2009 0.86
48 Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction. Mol Genet Metab 2010 0.86
49 Dobutamine stress radionuclide ventriculography reveals silent myocardial dysfunction in Kawasaki disease. Circ J 2002 0.86
50 Developmental trajectories of the fronto-temporal lobes from infancy to early adulthood in healthy individuals. Dev Neurosci 2012 0.85
51 Female agammaglobulinemia due to the Bruton tyrosine kinase deficiency caused by extremely skewed X-chromosome inactivation. Blood 2003 0.85
52 X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis. Am J Hematol 2005 0.85
53 Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China. J Clin Immunol 2008 0.85
54 Clinical and radiologic features of encephalopathy during 2011 E coli O111 outbreak in Japan. Neurology 2014 0.84
55 Infliximab reduces the cytokine-mediated inflammation but does not suppress cellular infiltration of the vessel wall in refractory Kawasaki disease. Pediatr Res 2009 0.84
56 Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. Br J Haematol 2005 0.84
57 SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. Mol Genet Metab 2008 0.83
58 Autoimmune lymphoproliferative syndrome mimicking chronic active Epstein-Barr virus infection. Int J Hematol 2011 0.83
59 Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome. Int J Hematol 2003 0.82
60 Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia. Int Arch Allergy Immunol 2006 0.82
61 Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes. J Hum Genet 2011 0.82
62 Rhinitis has an association with asthma in school children. Am J Rhinol Allergy 2013 0.81
63 X-linked agammaglobulinemia diagnosed in adulthood: a case report. Int J Hematol 2006 0.81
64 Characterization of Epstein-Barr virus (EBV)-infected cells in EBV-associated hemophagocytic lymphohistiocytosis in two patients with X-linked lymphoproliferative syndrome type 1 and type 2. Herpesviridae 2012 0.81
65 Efficacy and safety of IgPro20, a subcutaneous immunoglobulin, in Japanese patients with primary immunodeficiency diseases. J Clin Immunol 2014 0.81
66 Pneumocystis jiroveci pneumonia as an atypical presentation of X-linked agammaglobulinemia. Int J Hematol 2009 0.81
67 Acute tubulointerstitial nephritis: possible association with cytomegalovirus infection. Pediatr Nephrol 2005 0.81
68 Successful cardiac resynchronization therapy in a 3-year-old girl with isolated left ventricular non-compaction and narrow QRS complex: a case report. Circ J 2009 0.81
69 Characterization of ventricular myocardial performance in the fetus by tissue Doppler imaging. Circ J 2009 0.80
70 Autoimmune lymphoproliferative syndrome presenting with glomerulonephritis. Pediatr Nephrol 2003 0.80
71 Ability of preschool children to use dry powder inhalers as evaluated by In-Check Meter. Pediatr Int 2006 0.80
72 Bruton's tyrosine kinase regulates B cell antigen receptor-mediated JNK1 response through Rac1 and phospholipase C-gamma2 activation. FEBS Lett 2002 0.80
73 The long elusive IgM Fc receptor, FcμR. J Clin Immunol 2014 0.80
74 Effect of genetic polymorphisms of SLC28A1, ABCG2, and ABCC4 on bioavailability of mizoribine in healthy Japanese males. Drug Metab Pharmacokinet 2011 0.79
75 Echocardiographic and electrocardiographic analyses of patients with severe motor and intellectual disabilities. Heart Vessels 2009 0.79
76 Neuroblastoma in an XYY male. Cancer Genet Cytogenet 2006 0.79
77 Pneumothorax in patients with severe combined immunodeficiency. Pediatr Int 2014 0.79
78 Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia. Hum Mutat 2002 0.79
79 Pharmacokinetics of bosentan in routinely treated Japanese pediatric patients with pulmonary arterial hypertension. Drug Metab Pharmacokinet 2011 0.79
80 ETV6-ARNT fusion in a patient with childhood T lymphoblastic leukemia. Cancer Genet Cytogenet 2010 0.79
81 Severe neutropenia in Japanese patients with x-linked agammaglobulinemia. J Clin Immunol 2005 0.79
82 Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan. Int J Hematol 2006 0.79
83 Atypical lymphoproliferative disorder in a patient with X-linked thrombocytopenia. Pediatr Blood Cancer 2008 0.78
84 von Recklinghausen disease in a patient with X-linked agammaglobulinemia. Intern Med 2002 0.78
85 Association between obesity and asthma in Japanese preschool children. Pediatr Allergy Immunol 2012 0.78
86 Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients. J Hum Genet 2003 0.78
87 Clinical features and outcome of X-linked lymphoproliferative syndrome type 1 (SAP deficiency) in Japan identified by the combination of flow cytometric assay and genetic analysis. Pediatr Allergy Immunol 2012 0.78
88 Stemness of human Wharton's jelly mesenchymal cells is maintained by floating cultivation. Cell Reprogram 2012 0.78
89 Evaluation of phenytoin dosage regimens based on genotyping of CYP2C subfamily in routinely treated Japanese patients. Drug Metab Pharmacokinet 2005 0.78
90 Neutropenia associated with X-linked Agammaglobulinemia in an Iranian referral center. Iran J Allergy Asthma Immunol 2009 0.78
91 MxA-based recognition of viral illness in febrile children by a whole blood assay. Pediatr Res 2006 0.78
92 A novel immunoregulatory protein in human colostrum, syntenin-1, for promoting the development of IgA-producing cells from cord blood B cells. Int Immunol 2009 0.77
93 Effect of salt intake on bioavailability of mizoribine in healthy Japanese males. Drug Metab Pharmacokinet 2012 0.77
94 Molecular characterization of two novel VEGFR3 mutations in Japanese families with Milroy's disease. Pediatr Int 2008 0.77
95 Association of overweight with asthma symptoms in Japanese school children. Pediatr Int 2011 0.77
96 New sandwich-type enzyme-linked immunosorbent assay for human MxA protein in a whole blood using monoclonal antibodies against GTP-binding domain for recognition of viral infection. J Clin Lab Anal 2012 0.77
97 Transcriptional regulatory defects in the first intron of Bruton's tyrosine kinase. Pediatr Int 2008 0.77
98 X-linked agammaglobulinemia complicated with endobronchial tuberculosis. Acta Paediatr 2010 0.77
99 Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry. Cytometry B Clin Cytom 2011 0.77
100 Platelet-derived growth factor may be associated with fibrosis in a Down syndrome patient with transient myeloproliferative disorder. Eur J Haematol 2008 0.76
101 Decreased susceptibility to seizures induced by pentylenetetrazole in serine racemase knockout mice. Epilepsy Res 2012 0.76
102 Theophylline metabolism in acute asthma with MxA-indicated viral infection. Pediatr Int 2006 0.76
103 Mechanisms responsible for the altered pharmacokinetics of bosentan: analysis utilizing rats with bile duct ligation-induced liver dysfunction. Biopharm Drug Dispos 2009 0.76
104 [High-dose intravenous immunoglobulin treatment]. Nihon Rinsho 2011 0.76
105 Non-progressive viral myelitis in X-linked agammaglobulinemia. Brain Dev 2002 0.76
106 End-stage renal failure in a child with X-linked ichthyosis. Pediatr Nephrol 2003 0.75
107 Screening of the Bruton Tyrosine Kinase (BTK) Gene Mutations in 13 Iranian Patients with Presumed X-Linked Agammaglobulinemia. Iran J Allergy Asthma Immunol 2004 0.75
108 Bosentan induces clinical and hemodynamic improvement in candidates for right-sided heart bypass surgery. J Thorac Cardiovasc Surg 2010 0.75
109 Comparison of exhalation time methods (6 sec vs. 10 sec) of a hand-held exhaled nitric oxide analyzer. Pediatr Pulmonol 2010 0.75
110 Gross hematuria and detection of nephrotic syndrome after an athletics event. Pediatr Nephrol 2009 0.75
111 Spontaneous regression of aleukemic leukemia cutis harboring a NPM/RARA fusion gene in an infant with cutaneous mastocytosis. Int J Hematol 2008 0.75
112 Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication. Rapid Commun Mass Spectrom 2009 0.75
113 Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly. Pediatr Blood Cancer 2006 0.75
114 Association between the results of the childhood asthma control test and objective parameters in asthmatic children. J Asthma 2011 0.75
115 Acute poststreptococcal glomerulonephritis in a child with Bardet-Biedl syndrome. Pediatr Nephrol 2002 0.75
116 Safety and usefulness of a novel eMotion electric mesh nebulizer in children with asthma. Allergol Int 2006 0.75
117 Giardiasis in a patient undergoing chemotherapy for retinoblastoma and acute myelogenous leukemia. Pediatr Int 2013 0.75
118 Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis. Int J Hematol 2012 0.75
119 A case of large ventricular septal defect with right-sided diaphragmatic hernia. Cardiol Young 2003 0.75
120 Acute promyelocytic leukemia following aleukemic leukemia cutis harboring NPM/RARA fusion gene. Pediatr Blood Cancer 2012 0.75
121 A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome. Eur J Pediatr 2007 0.75
122 [Genetic and proteinic analysis of a Chinese boy with X-linked lymphoproliferative disease and his maternal relatives]. Zhonghua Er Ke Za Zhi 2011 0.75
123 Flavin-catalyzed aerobic oxidation of sulfides and thiols with formic acid/triethylamine. Chem Commun (Camb) 2014 0.75
124 [Progress of diagnosis and treatment of X-linked inhibitor of apoptosis deficiency]. Zhonghua Er Ke Za Zhi 2012 0.75
125 [IPEX syndrome and human Treg cells]. Nihon Rinsho Meneki Gakkai Kaishi 2010 0.75
126 Acute lymphoblastic leukemia after living donor liver transplantation. Pediatr Int 2005 0.75
127 Case of acute cerebellar ataxia associated with primary Epstein-Barr virus infection. Pediatr Int 2010 0.75
128 [Intravenous immunoglobulin replacement therapy in X-linked agammaglobulinemia]. Nihon Rinsho Meneki Gakkai Kaishi 2002 0.75
129 Hepatocyte growth factor in transient myeloproliferative disorder of Down syndrome. Pediatr Int 2009 0.75
130 Three brothers of X-linked agammaglobulinemia: the relation between phenotype and neutropenia. Int J Hematol 2009 0.75
131 Allogeneic bone marrow transplantation appears to ameliorate IgA nephropathy in a patient with X-linked thrombocytopenia. J Clin Immunol 2013 0.75
132 Atypical case of X-linked agammaglobulinemia diagnosed at 45 years of age. Pediatr Int 2011 0.75
133 [Immune response to Epstein-Barr virus]. Nihon Rinsho 2006 0.75
134 Gross hematuria in the VATER association: coincidence or association. Nephrology (Carlton) 2008 0.75
135 Intrauterine growth restriction modifies gene expression profiling in cord blood. Pediatr Int 2014 0.75
136 [X-linked agammaglobulinemia (XLA) associated with agranulocytosis--case report]. Wiad Lek 2003 0.75
137 Discovery of sulfonylalkylamides: A new class of orally active factor Xa inhibitors. Bioorg Med Chem 2007 0.75
138 [Lymphoproliferative disorders caused by hereditary genetic defects]. Nihon Rinsho Meneki Gakkai Kaishi 2003 0.75
139 A de novo interstitial deletion of 8p11.2 including ANK1 identified in a patient with spherocytosis, psychomotor developmental delay, and distinctive facial features. Gene 2012 0.75
140 Nocturnal enuresis as a first manifestation of acute lymphoblastic leukemia. Pediatr Int 2013 0.75
141 Distinct clones are associated with the development of transient myeloproliferative disorder and acute megakaryocytic leukemia in a patient with Down syndrome. Int J Hematol 2007 0.75
142 Assessment of variables affecting flow propagation velocity of the left ventricle in healthy children. Pediatr Int 2007 0.75
143 [Primary immunodeficiency diseases]. Nihon Rinsho 2005 0.75
144 X-linked lymphoproliferative disease in an adult. Int J Hematol 2005 0.75
145 Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. Pediatr Transplant 2012 0.75
146 X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency. Eur J Pediatr 2005 0.75
147 Lymphoproliferative disorders in immunocompromised individuals and therapeutic antibodies for treatment. Immunotherapy 2013 0.75
148 Neutropenia and myeloid dysplasia in a patient with delayed-onset adenosine deaminase deficiency. Pediatr Blood Cancer 2013 0.75
149 Relationship between rhinitis and nocturnal cough in school children. Pediatr Allergy Immunol 2012 0.75