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1. Full Text Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants
by Kagawa, Reiko, MD and Fujiki, Ryoji, MS and Tsumura, Miyuki, PhD and Sakata, Sonoko, MD and Nishimura, Shiho, MD and Itan, Yuval, PhD and Kong, Xiao-Fei, MD, PhD and Kato, Zenichiro, MD, PhD and Ohnishi, Hidenori, MD, PhD and Hirata, Osamu, MD, PhD and Saito, Satoshi, MD and Ikeda, Maiko, MD and El Baghdadi, Jamila, PhD and Bousfiha, Aziz, MD and Fujiwara, Kaori, MD and Oleastro, Matias, MD and Yancoski, Judith, PhD and Perez, Laura, BSc and Danielian, Silvia, PhD and Ailal, Fatima, MD and Takada, Hidetoshi, MD, PhD and Hara, Toshiro, MD, PhD and Puel, Anne, PhD and Boisson-Dupuis, Stéphanie, PhD and Bustamante, Jacinta, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Ohara, Osamu, PhD and Okada, Satoshi, MD, PhD and Kobayashi, Masao, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 140, Issue 1, pp. 232 - 241
Background Germline heterozygous mutations in human signal transducer and activator of transcription 1 (STAT1) can cause loss of function (LOF), as in patients... 
Allergy and Immunology | alanine scanning | Signal transduction and activator of transcription 1 | chronic mucocutaneous candidiasis | Mendelian susceptibility to mycobacterial disease | reference database | FUNCTION STAT1 MUTATIONS | MYCOBACTERIAL DISEASE | IMMUNOLOGY | MULTIFOCAL OSTEOMYELITIS | INBORN-ERRORS | IFN-GAMMA IMMUNITY | COMBINED IMMUNODEFICIENCY | ALLERGY | MENDELIAN SUSCEPTIBILITY | EX-VIVO | CLINICAL PHENOTYPE | Genetic Predisposition to Disease | Alanine - genetics | Mutagenesis | Humans | Mycobacterium Infections - genetics | Protein Domains | Biological Assay | Female | Male | Mutation | STAT1 Transcription Factor - genetics | Genetic research | Mycoses | Medical colleges | Disease susceptibility | Genetic transcription | Coils | Candidiasis | Scanning | Transcription | Genes | Amino acids | Genomes | Kinases | Assaying | Proteins | Fungi | Missense mutation | Fungal diseases | Stat1 protein | Deoxyribonucleic acid--DNA | Binding | Alanine | Chronic mucocutaneous candidiasis | Scanning mutagenesis | Patients | Mutants | Diseases | Human subjects | Infectious diseases | Computer applications | Viral infections
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2. Full Text Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects
by Nakagawa, Noriko, MD and Imai, Kohsuke, MD, PhD and Kanegane, Hirokazu, MD, PhD and Sato, Hiroki, MS and Yamada, Masafumi, MD, PhD and Kondoh, Kensuke, MD, PhD and Okada, Satoshi, MD, PhD and Kobayashi, Masao, MD, PhD and Agematsu, Kazunaga, MD, PhD and Takada, Hidetoshi, MD, PhD and Mitsuiki, Noriko, MD and Oshima, Koichi, MD and Ohara, Osamu, PhD and Suri, Deepti, MD and Rawat, Amit, MD and Singh, Surjit, MD and Pan-Hammarström, Qiang, MD, PhD and Hammarström, Lennart, MD, PhD and Reichenbach, Janine, MD and Seger, Reinhard, MD and Ariga, Tadashi, MD, PhD and Hara, Toshiro, MD, PhD and Miyawaki, Toshio, MD, PhD and Nonoyama, Shigeaki, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 1, pp. 223 - 225.e2
Allergy and Immunology | X-LINKED AGAMMAGLOBULINEMIA | GENETIC-ANALYSIS | IMMUNOLOGY | ALLERGY | LYMPHOCYTES | Agammaglobulinemia - blood | Agammaglobulinemia - genetics | Humans | Sensitivity and Specificity | Gene Rearrangement, B-Lymphocyte, Light Chain - genetics | Agammaglobulinemia - diagnosis | Neonatal Screening - methods | Reverse Transcriptase Polymerase Chain Reaction | Early Diagnosis | Infant, Newborn
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3. Full Text Tissue Inhibitor of Metalloproteinase 2 and Coronary Artery Lesions in Kawasaki Disease
by Furuno, Kenji, MD, PhD and Takada, Hidetoshi, MD, PhD and Yamamoto, Ken, MD, PhD and Ikeda, Kazuyuki, MD and Ohno, Takuro, MD, PhD and Khajoee, Vahid, MD, PhD and Mizuno, Yumi, MD, PhD and Hara, Toshiro, MD, PhD
Journal of Pediatrics, The, ISSN 0022-3476, 2007, Volume 151, Issue 2, pp. 155 - 160.e1
Objective To identify cytokine genes uniquely expressed in peripheral blood mononuclear cells (PBMNCs) in the acute phase of Kawasaki disease (KD) with... 
Pediatrics | PREDICTIVE INDICATOR | MMP | PEDIATRICS | INTRAVENOUS GAMMA-GLOBULIN | ANEURYSMS | ENDOTHELIAL GROWTH-FACTOR | Severity of Illness Index | Acute Disease | Genetic Predisposition to Disease | Mucocutaneous Lymph Node Syndrome - physiopathology | Oligonucleotide Array Sequence Analysis - methods | Humans | Gene Expression Regulation | Child, Preschool | Probability | Coronary Disease - physiopathology | Male | Reference Values | Reverse Transcriptase Polymerase Chain Reaction | Case-Control Studies | Mucocutaneous Lymph Node Syndrome - genetics | Matrix Metalloproteinase 2 - genetics | Mucocutaneous Lymph Node Syndrome - complications | Coronary Disease - genetics | Coronary Disease - complications | Sensitivity and Specificity | Female | Polymorphism, Single Nucleotide | RNA, Messenger | Cohort Studies | Kawasaki disease
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4. Full Text Lipopolysaccharide-Induced Monocytic Cell Death for the Diagnosis of Mild Neonatal-Onset Multisystem Inflammatory Disease
by Takada, Hidetoshi, MD, PhD and Ishimura, Masataka, MD and Inada, Hiroko, MD, PhD and Ohga, Shouichi, MD, PhD and Kusuhara, Koichi, MD, PhD and Moroi, Yoichi, MD, PhD and Furue, Masutaka, MD, PhD and Hara, Toshiro, MD, PhD
Journal of Pediatrics, The, ISSN 0022-3476, 2008, Volume 152, Issue 6, pp. 885 - 887.e1
In this report, we describe a boy who showed mild symptoms of neonatal-onset multisystem inflammatory disease. Although his symptoms and laboratory findings... 
Pediatrics | ARTICULAR SYNDROME | DISORDERS | PEDIATRICS | COLD AUTOINFLAMMATORY SYNDROME | GENE | CIAS1 MUTATIONS | Monocytes - drug effects | Severity of Illness Index | Humans | Cell Death | Lipopolysaccharides - pharmacology | Male | Inflammation - diagnosis | Child | Inflammation - blood
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5. Full Text Hematopoietic stem cell transplantation for CD3δ deficiency
by Marcus, Nufar, MD and Takada, Hidetoshi, MD and Law, Jason, MD and Cowan, Morton J., MD and Gil, Juana, MD, PhD and Regueiro, Jose R., MD, PhD and Plaza Lopez de Sabando, Diego, MD and Lopez-Granados, Eduardo, MD, PhD and Dalal, Jignesh, MD and Friedrich, Wilhelm, MD and Manfred, Hoenig, MD and Hanson, Imelda Celine, MD and Grunebaum, Eyal, MD and Shearer, William T., MD, PhD and Roifman, Chaim M., MD, FRCPC
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2011, Volume 128, Issue 5, pp. 1050 - 1057
Background CD3δ deficiency is a fatal form of severe combined immunodeficiency that can be cured by hematopoietic stem cell transplantation (HSCT). The... 
Allergy and Immunology | engraftment | stem cell transplant | bone marrow transplant | myeloablative conditioning | severe combined immunodeficiency | CD3δ | BONE-MARROW-TRANSPLANTATION | IMMUNE RECONSTITUTION | CD3 delta | SINGLE-CENTER | IMMUNOLOGY | DISEASES | CD3 | ALLERGY | EXPERIENCE | Humans | CD3 Complex - immunology | Child, Preschool | Female | Infant | Male | Severe Combined Immunodeficiency - surgery | Postoperative Complications - epidemiology | Severe Combined Immunodeficiency - immunology | Hematopoietic Stem Cell Transplantation - methods | Transplantation Conditioning - methods | Infant, Newborn | CD3delta
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6. Full Text Wiskott-Aldrich Syndrome in a Girl Caused by Heterozygous WASP Mutation and Extremely Skewed X-Chromosome Inactivation: A Novel Association with Maternal Uniparental Isodisomy 6
by Takimoto, Tomohito and Takada, Hidetoshi and Ishimura, Masataka and Kirino, Makiko and Hata, Kenichiro and Ohara, Osamu and Morio, Tomohiro and Hara, Toshiro
Neonatology, ISSN 1661-7800, 03/2015, Volume 107, Issue 3, pp. 185 - 190
Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by microthrombocytopenia, eczema and immune deficiency, caused primarily by mutations in... 
Novel Insights from Clinical Practice | Wiskott-Aldrich syndrome | Uniparental isodisomy | Congenital thrombocytopenia | X-chromosome inactivation | Low birth weight | CELLS | ACTIN POLYMERIZATION | DISEASE | SYNDROME PROTEIN | PEDIATRICS | EXPRESSION | NUCLEAR TRANSLOCATION | Sequence Deletion | Wiskott-Aldrich Syndrome Protein - genetics | Chromosomes, Human, X - genetics | Exons | Humans | Genotype | Infant | Codon, Nonsense | Wiskott-Aldrich Syndrome - genetics | Uniparental Disomy - genetics | DNA Mutational Analysis | Female | Heterozygote
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7. Full Text Limited renal prophylaxis in regular plasmatherapy for heritable ADAMTS13 deficiency
by Doi, Takehiko and Ohga, Shouichi and Ito, Naoko and Ishimura, Masataka and Suga, Naohiro and Nomura, Akihiko and Takada, Hidetoshi and Matsumoto, Masanori and Fujimura, Yoshihiro and Hara, Toshiro
Pediatric Blood & Cancer, ISSN 1545-5009, 09/2013, Volume 60, Issue 9, pp. 1557 - 1558
PEDIATRICS | PLASMA | THROMBOTIC THROMBOCYTOPENIC PURPURA | MUTATIONS | ONCOLOGY | HEMATOLOGY | Kidney Diseases - physiopathology | Kidney Diseases - prevention & control | Humans | Kidney - enzymology | Genetic Diseases, Inborn - genetics | Male | Genetic Diseases, Inborn - therapy | Kidney Diseases - enzymology | Plasma Exchange | ADAMTS13 Protein | Kidney Diseases - genetics | Purpura, Thrombotic Thrombocytopenic - enzymology | Genetic Diseases, Inborn - enzymology | Adolescent | Germ-Line Mutation | Adult | Female | Genetic Diseases, Inborn - physiopathology | Purpura, Thrombotic Thrombocytopenic - therapy | ADAM Proteins - genetics | Purpura, Thrombotic Thrombocytopenic - genetics | Purpura, Thrombotic Thrombocytopenic - physiopathology | Kidney - physiopathology
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8. Full Text Successful Unrelated Cord Blood Transplantation for Epstein-Barr Virus-Associated Lymphoproliferative Disease with Hemophagocytic Syndrome
by Toubo, Taikai and Suga, Naohiro and Ohga, Shouichi and Nomura, Akihiko and Onoe, Yasuhiro and Takada, Hidetoshi and Hara, Toshiro
International Journal of Hematology, ISSN 0925-5710, 12/2004, Volume 80, Issue 5, pp. 458 - 462
We report a case of successful umbilical cord blood transplantation (CBT) for Epstein-Barr virus (EBV)-associated lymphoproliferative disease (LPD) in a... 
Hemophagocytic syndrome | Lymphoproliferative disease | Medicine & Public Health | Hematology | Cord blood transplantation | Oncology | Epstein-Barr virus | Hepatosplenic lymphoma | IMMUNITY | lymphoproliferative disease | LYMPHOHISTIOCYTOSIS | DONOR | hemophagocytic syndrome | CYTOTOXIC T-LYMPHOCYTES | hepatosplenic lymphoma | ADOPTIVE TRANSFER | JAPAN | LYMPHOMA | INFECTION | PATIENT | STEM-CELL TRANSPLANTATION | HEMATOLOGY | cord blood transplantation | Histiocytosis, Non-Langerhans-Cell - pathology | Histiocytosis, Non-Langerhans-Cell - etiology | Humans | Lymphoproliferative Disorders - virology | Lymphoproliferative Disorders - complications | Histiocytosis, Non-Langerhans-Cell - therapy | Lymphoproliferative Disorders - diagnostic imaging | Lymphoproliferative Disorders - pathology | Transplantation Chimera | Herpesvirus 4, Human | Lymphoproliferative Disorders - therapy | Cord Blood Stem Cell Transplantation | Epstein-Barr Virus Infections - pathology | Radiography | Epstein-Barr Virus Infections - diagnostic imaging | Epstein-Barr Virus Infections - therapy | Histiocytosis, Non-Langerhans-Cell - diagnostic imaging | Epstein-Barr Virus Infections - complications | Female | Transplantation Conditioning | Child | Histocompatibility | Cyclophosphamide | College graduates | Stem cells | Etoposide | Lymphomas | Skin | Health aspects
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9. Full Text Epstein-Barr Virus—Associated Meningoencephalomyelitis: Intrathecal Reactivation of the Virus in an Immunocompetent Child
by Sanefuji, Masafumi and Ohga, Shouichi and Kira, Ryutaro and Nomura, Akihiko and Torisu, Hiroyuki and Takada, Hidetoshi and Kusuhara, Koichi and Hara, Toshiro
Journal of Child Neurology, ISSN 0883-0738, 09/2008, Volume 23, Issue 9, pp. 1072 - 1077
Neurologic complications, including meningoencephalitis, transverse myelitis, and peripheral neuropathy, have been reported in patients with acute infectious... 
Epstein-Barr virus | Acute disseminated encephalomyelitis | Meningoencephalomyelitis | ENCEPHALOMYELITIS | MANIFESTATION | LOAD | acute disseminated encephalomyelitis | INFECTIOUS-MONONUCLEOSIS | meningoencephalomyelitis | CLINICAL NEUROLOGY | NEUROPATHY | ENCEPHALITIS | PEDIATRIC-PATIENTS | LYMPHOPROLIFERATIVE DISORDER | PEDIATRICS | CENTRAL-NERVOUS-SYSTEM | COMPLICATIONS | Infectious Mononucleosis - complications | Meninges - virology | Encephalitis, Viral - virology | Subarachnoid Space - physiopathology | Humans | Brain - virology | Meningitis, Viral - immunology | DNA, Viral - analysis | Viral Load | Meninges - physiopathology | Spinal Cord - pathology | Anti-Inflammatory Agents - therapeutic use | Female | Subarachnoid Space - virology | Gene Dosage - genetics | Meninges - pathology | Antiviral Agents - therapeutic use | Meningitis, Viral - virology | Brain - physiopathology | Encephalitis, Viral - physiopathology | Herpesvirus 4, Human - physiology | Meningitis, Viral - physiopathology | Immunocompetence - immunology | Treatment Outcome | Magnetic Resonance Imaging | Infectious Mononucleosis - virology | Adolescent | Subarachnoid Space - pathology | Brain - pathology | Spinal Cord - physiopathology | Spinal Cord - virology | Encephalitis, Viral - immunology | Virus Replication - physiology
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10. Full Text Early‐onset sarcoidosis mimicking refractory cutaneous histiocytosis
by Ohga, Shouichi and Ichino, Kiyomi and Urabe, Kazunori and Ishimura, Masataka and Takada, Hidetoshi and Nishikomori, Ryuta and Furue, Masutaka and Hara, Toshiro
Pediatric Blood & Cancer, ISSN 1545-5009, 03/2008, Volume 50, Issue 3, pp. 723 - 726
A 10‐year‐old female was diagnosed as having early‐onset sarcoidosis (EOS) after a prolonged skin disease. A granuloma emerged on the face at age 2 and massive... 
macrophage activation syndrome | cutaneous histiocytosis | early‐onset sarcoidosis | Cutaneous histiocytosis | Early-onset sarcoidosis | Macrophage activation syndrome | early-onsel sarcoidosis | CARD15 MUTATIONS | BLAU-SYNDROME | ANGIOTENSIN-CONVERTING ENZYME | LESIONS | CHILDREN | GRANULOMATOUS PERIORIFICIAL DERMATITIS | ONCOLOGY | LANGERHANS CELL HISTIOCYTOSIS | CHILDHOOD SARCOIDOSIS | JUVENILE XANTHOGRANULOMA | PEDIATRICS | HEMATOLOGY | Sarcoidosis - diagnosis | Diagnosis, Differential | Interleukins - blood | Humans | Histiocytosis - diagnosis | Sarcoidosis - drug therapy | Etoposide - therapeutic use | Skin Diseases - drug therapy | Methotrexate - therapeutic use | Skin Diseases - pathology | Vinblastine - therapeutic use | Macrophage Activation | Facial Dermatoses - etiology | Sarcoidosis - complications | Skin Diseases - diagnosis | Skin Diseases - complications | Diagnostic Errors | Hypercalcemia - etiology | Female | Prednisolone - therapeutic use | Child | Early Diagnosis | Interferon-gamma - blood | Sarcoidosis - pathology
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11. Full Text Unilateral renal cortical necrosis with contralateral hydronephrosis after surgery for uterus carcinoma
by Hashimoto, S and Shiroshita, K and Sakurai, T and Takada, A and Kawata, T and Koike, T and Sato, H and Ueda, T
Clinical and Experimental Nephrology, ISSN 1342-1751, 03/2003, Volume 7, Issue 1, pp. 0072 - 0076
Renal cortical necrosis (RCN) represents a rare cause of acute renal failure that is characterized by necrosis of the renal cortex with sparing of the medulla.... 
Renal cortical necrosis | Acute renal failure | Hydronephrosis | Hydronephrosis - complications | Kidney Cortex Necrosis - complications | Kidney - pathology | Hydronephrosis - diagnosis | Blood Urea Nitrogen | Humans | Tomography, X-Ray Computed | Kidney Cortex Necrosis - diagnosis | Aspartate Aminotransferases - blood | Biopsy | Kidney Cortex Necrosis - parasitology | L-Lactate Dehydrogenase - blood | Endometrial Neoplasms - surgery | Creatinine - blood | Female | Aged | Postoperative Complications | Adenocarcinoma - surgery | Kidney diseases | Cancer
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