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AIOLOS-Associated Inborn Errors of Immunity.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 6, p. 1, doi. 10.1007/s10875-024-01730-9
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- Publication type:
- Article
Clinical and molecular significance of flow cytometric analysis for reactive oxygen species production and residual p67<sup>phox</sup> expression in p67<sup>phox</sup>‐deficient chronic granulomatous disease.
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- Scandinavian Journal of Immunology, 2024, v. 100, n. 1, p. 1, doi. 10.1111/sji.13372
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- Publication type:
- Article
Case Report: A neonatal case of cryopyrin-associated periodic syndrome with severe funisitis and neonatal asphyxia.
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- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1397412
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- Publication type:
- Article
Intracranial residual lesions following early intensification in a patient with T-cell acute lymphoblastic leukemia: a case report.
- Published in:
- 2024
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- Publication type:
- Case Study
Exploring viral infections' role in Kawasaki disease onset: A study during the COVID‐19 pandemic.
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- Journal of Medical Virology, 2024, v. 96, n. 5, p. 1, doi. 10.1002/jmv.29660
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- Publication type:
- Article
Monoallelic KRAS (G13C) mutation triggers dysregulated expansion in induced pluripotent stem cell-derived hematopoietic progenitor cells.
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- Stem Cell Research & Therapy, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13287-024-03723-2
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- Article
A Bcl11b<sup>N797K</sup> variant isolated from an immunodeficient patient inhibits early thymocyte development in mice.
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- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1363704
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- Article
Oxygen–Glucose Deprivation Increases NR4A1 Expression and Promotes Its Extranuclear Translocation in Mouse Astrocytes.
- Published in:
- Brain Sciences (2076-3425), 2024, v. 14, n. 3, p. 244, doi. 10.3390/brainsci14030244
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- Publication type:
- Article
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 3, p. 750, doi. 10.1210/clinem/dgad577
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- Article
Transient erythroblastopenia due to a GATA1 variant in an infant female.
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- Pediatric Blood & Cancer, 2024, v. 71, n. 3, p. 1, doi. 10.1002/pbc.30834
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- Article
A Rare AIOLOS N160S Variant Causing IEI in Human.
- Published in:
- 2024
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- Publication type:
- Letter
An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1827, doi. 10.1007/s10875-023-01551-2
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- Publication type:
- Article
Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.
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- Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2136, doi. 10.1007/s10875-023-01591-8
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- Publication type:
- Article
Hematopoietic cell transplantation for hematological malignancies in Bloom syndrome.
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- Pediatric Blood & Cancer, 2023, v. 70, n. 11, p. 1, doi. 10.1002/pbc.30655
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- Publication type:
- Article
Changes in electrophysiological findings of spinal muscular atrophy type I after the administration of nusinersen and onasemnogene abeparvovec: two case reports.
- Published in:
- 2023
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- Publication type:
- Case Study
Correction: Importance of pediatric rheumatologists and transitional care for juvenile idiopathic arthritis-associated uveitis: a retrospective series of 9 cases.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Association between the initiation of insurance coverage for fetal echocardiography and mortality from congenital heart disease in infants: An interrupted time series analysis.
- Published in:
- Paediatric & Perinatal Epidemiology, 2023, v. 37, n. 7, p. 607, doi. 10.1111/ppe.12984
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- Publication type:
- Article
Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open‐label, single‐arm, phase 3, and postmarketing clinical study.
- Published in:
- Immunity, Inflammation & Disease, 2023, v. 11, n. 7, p. 1, doi. 10.1002/iid3.917
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- Publication type:
- Article
Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developed during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case report.
- Published in:
- Modern Rheumatology Case Reports, 2023, v. 7, n. 2, p. 404, doi. 10.1093/mrcr/rxac086
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- Publication type:
- Article
A SAMD5–SASH1 fusion in solitary infantile myofibromatosis.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 6, p. 1, doi. 10.1002/pbc.30278
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- Publication type:
- Article
Targeting Poly(ADP)ribose polymerase in BCR/ABL1-positive cells.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-33852-2
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- Publication type:
- Article
Synergistic effect of combined PI3 kinase inhibitor and PARP inhibitor treatment on BCR/ABL1-positive acute lymphoblastic leukemia cells.
- Published in:
- International Journal of Hematology, 2023, v. 117, n. 5, p. 748, doi. 10.1007/s12185-022-03520-8
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- Publication type:
- Article
Initial manifestations in Patients with Inborn Errors of Immunity Based on Onset Age: a Study from a Nationwide Survey in Japan.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 4, p. 747, doi. 10.1007/s10875-023-01434-6
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- Publication type:
- Article
Maternal Gonosomal Mosaicism Causes XIAP Deficiency.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 3, p. 525, doi. 10.1007/s10875-022-01414-2
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- Publication type:
- Article
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan.
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- Journal of Clinical Immunology, 2023, v. 43, n. 3, p. 585, doi. 10.1007/s10875-022-01405-3
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- Publication type:
- Article
A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2022.1033074
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- Publication type:
- Article
Atrophic autoimmune thyroiditis complicated with systemic lupus erythematosus.
- Published in:
- Modern Rheumatology Case Reports, 2023, v. 7, n. 1, p. 65, doi. 10.1093/mrcr/rxac057
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- Publication type:
- Article
Transient immune deficiency accompanied with homozygous CBL rare variant.
- Published in:
- Pediatrics International, 2023, v. 65, n. 1, p. 1, doi. 10.1111/ped.15439
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- Publication type:
- Article
Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report.
- Published in:
- 2023
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- Publication type:
- Case Study
A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00221-w
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- Publication type:
- Article
The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3341, doi. 10.1210/clinem/dgac521
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- Publication type:
- Article
A girl with hearing loss, dizziness, hypertension, and pyelonephritis with ureteral edema: Questions.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 12, p. 3057, doi. 10.1007/s00467-022-05545-x
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- Publication type:
- Article
A girl with hearing loss, dizziness, hypertension, and pyelonephritis with ureteral edema: Answers.
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- Pediatric Nephrology, 2022, v. 37, n. 12, p. 3059, doi. 10.1007/s00467-022-05555-9
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- Publication type:
- Article
adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa.
- Published in:
- 2022
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- Publication type:
- Case Study
Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1020362
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- Publication type:
- Article
B-Cell Immune Reconstitution with Mixed Chimerism After Hematopoietic Cell Transplantation in a Patient with Severe Combined Immunodeficiency.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1392, doi. 10.1007/s10875-022-01311-8
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- Publication type:
- Article
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1473, doi. 10.1007/s10875-022-01289-3
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- Publication type:
- Article
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1508, doi. 10.1007/s10875-022-01352-z
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- Publication type:
- Article
Clinical Significance of Vascular Ultrasonography in the Diagnosis of Early Childhood Takayasu Arteritis Presenting as Fever of Unknown Origin.
- Published in:
- 2022
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- Publication type:
- letter
Potential role of HTLV-1 Tax-specific cytotoxic t lymphocytes expressing a unique t-cell receptor to promote inflammation of the central nervous system in myelopathy associated with HTLV-1.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.993025
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- Publication type:
- Article
Correction to: Vaccination for Patients with Inborn Errors of Immunity: A Nationwide Survey in Japan.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 13, p. 2223, doi. 10.1093/hmg/ddac023
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- Publication type:
- Article
Conditioning regimens for inborn errors of immunity: current perspectives and future strategies.
- Published in:
- International Journal of Hematology, 2022, v. 116, n. 1, p. 7, doi. 10.1007/s12185-022-03389-7
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- Publication type:
- Article
Transcriptome analysis of umbilical cord mesenchymal stem cells revealed fetal programming due to chorioamnionitis.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10258-0
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- Publication type:
- Article
Transcriptome analysis of umbilical cord mesenchymal stem cells revealed fetal programming due to chorioamnionitis.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10258-0
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- Publication type:
- Article
AIOLOS Variants Causing Immunodeficiency in Human and Mice.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.866582
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- Publication type:
- Article
Reliability of antinuclear matrix protein 2 antibody assays in idiopathic inflammatory myopathies is dependent on target protein properties.
- Published in:
- Journal of Dermatology, 2022, v. 49, n. 4, p. 441, doi. 10.1111/1346-8138.16295
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- Publication type:
- Article
Anti-nuclear matrix protein 2 antibody-positive inflammatory myopathies represent extensive myositis without dermatomyositis-specific rash.
- Published in:
- Rheumatology, 2022, v. 61, n. 3, p. 1222, doi. 10.1093/rheumatology/keab518
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- Publication type:
- Article
Case Report: Rotavirus Vaccination and Severe Combined Immunodeficiency in Japan.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.786375
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- Publication type:
- Article
Stem cell transplantation for pediatric patients with adrenoleukodystrophy: A nationwide retrospective analysis in Japan.
- Published in:
- Pediatric Transplantation, 2022, v. 26, n. 1, p. 1, doi. 10.1111/petr.14125
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- Publication type:
- Article