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Spectrum of neuroradiological manifestations in primary hemophagocytic lymphohistiocytosis: a comparative study of EBV-induced versus non-EBV-induced forms in 75 genetically confirmed pediatric cases.
- Published in:
- European Radiology, 2023, v. 33, n. 10, p. 7149, doi. 10.1007/s00330-023-09649-2
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- Publication type:
- Article
The Expanding Spectrum of Human coronin 1A deficiency.
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- Current Allergy & Asthma Reports, 2014, v. 14, n. 12, p. 1, doi. 10.1007/s11882-014-0481-1
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- Publication type:
- Article
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
- Published in:
- 2017
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- Publication type:
- journal article
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1.
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- 2008
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- Publication type:
- journal article
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 706, doi. 10.1002/ajmg.a.38061
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- Publication type:
- Article
RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations.
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- Journal of Bone & Mineral Research, 2012, v. 27, n. 2, p. 342, doi. 10.1002/jbmr.559
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- Publication type:
- Article
Long‐term follow‐up of children with risk organ‐negative Langerhans cell histiocytosis after 2‐chlorodeoxyadenosine treatment.
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- British Journal of Haematology, 2020, v. 191, n. 5, p. 825, doi. 10.1111/bjh.16944
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- Publication type:
- Article
Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study.
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- British Journal of Haematology, 2018, v. 183, n. 4, p. 608, doi. 10.1111/bjh.15577
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- Publication type:
- Article
Circulating cell-free BRAF<sup>V600E</sup> as a biomarker in children with Langerhans cell histiocytosis.
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- British Journal of Haematology, 2017, v. 178, n. 3, p. 457, doi. 10.1111/bjh.14695
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- Publication type:
- Article
Langerhans cell histiocytosis: therapeutic strategy and outcome in a 30-year nationwide cohort of 1478 patients under 18 years of age.
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- British Journal of Haematology, 2016, v. 174, n. 6, p. 887, doi. 10.1111/bjh.14140
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- Publication type:
- Article
Treatment of Epstein Barr virus-induced haemophagocytic lymphohistiocytosis with rituximab-containing chemo-immunotherapeutic regimens.
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- British Journal of Haematology, 2013, v. 162, n. 3, p. 376, doi. 10.1111/bjh.12386
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- Publication type:
- Article
Molecular and clinicopathologic characterization of pediatric histiocytoses.
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- American Journal of Hematology, 2023, v. 98, n. 7, p. 1058, doi. 10.1002/ajh.26938
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- Publication type:
- Article
The V(D)J Recombination/DNA Repair Factor Artemis Belongs to the Metallo-β-Lactamase Family and Constitutes a Critical Developmental Checkpoint of the Lymphoid System.
- Published in:
- Annals of the New York Academy of Sciences, 2003, v. 987, n. 1, p. 150, doi. 10.1111/j.1749-6632.2003.tb06043.x
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- Article
Artemis sheds new light on V(D)J recombination.
- Published in:
- Immunological Reviews, 2004, v. 200, n. 1, p. 142, doi. 10.1111/j.0105-2896.2004.00169.x
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- Publication type:
- Article
Metallo‐β‐lactamase fold within nucleic acids processing enzymes: the β‐CASP family.
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- Nucleic Acids Research, 2002, v. 30, n. 16, p. 3592, doi. 10.1093/nar/gkf470
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- Publication type:
- Article
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
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- Science Immunology, 2023, v. 8, n. 79, p. 1, doi. 10.1126/sciimmunol.ade7953
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- Publication type:
- Article
Inborn errors of immunity caused by defects in the DNA damage response pathways: Importance of minimizing treatment‐related genotoxicity.
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- Pediatric Allergy & Immunology, 2022, v. 33, n. 6, p. 1, doi. 10.1111/pai.13820
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- Publication type:
- Article
Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency.
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- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.669943
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- Publication type:
- Article
Different Clinical Presentations and Outcomes of Disseminated Varicella in Children With Primary and Acquired Immunodeficiencies.
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- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.595478
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- Publication type:
- Article
Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency.
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- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.574738
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- Publication type:
- Article
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 7, p. 612, doi. 10.1093/hmg/ddad210
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- Publication type:
- Article
Sustained remission after haploidentical bone marrow transplantation in a child with refractory systemic juvenile idiopathic arthritis.
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- Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00523-3
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- Publication type:
- Article
Letermovir for CMV Prophylaxis in Very High-Risk Pediatric Hematopoietic Stem Cell Transplantation Recipients for Inborn Errors of Immunity.
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- Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01617-1
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- Publication type:
- Article
Haploidentical Stem Cell Transplantation with Post-transplantation Cyclophosphamide in High-Risk Chronic Granulomatous Disease Patient with Invasive Mucormycosis.
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- Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1758, doi. 10.1007/s10875-023-01567-8
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- Publication type:
- Article
Current Spectrum of Infections in Patients with X-Linked Agammaglobulinemia.
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- Journal of Clinical Immunology, 2021, v. 41, n. 6, p. 1266, doi. 10.1007/s10875-021-01043-1
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- Publication type:
- Article
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
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- Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 958, doi. 10.1007/s10875-021-00985-w
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- Publication type:
- Article
Infections in Patients with Chronic Granulomatous Disease Treated with Tumor Necrosis Factor Alpha Blockers for Inflammatory Complications.
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- Journal of Clinical Immunology, 2021, v. 41, n. 1, p. 185, doi. 10.1007/s10875-020-00901-8
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- Publication type:
- Article
Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series.
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- Journal of Clinical Immunology, 2020, v. 40, n. 5, p. 752, doi. 10.1007/s10875-020-00791-w
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- Publication type:
- Article
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.
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- Journal of Clinical Immunology, 2019, v. 39, n. 1, p. 81, doi. 10.1007/s10875-018-0581-0
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- Article
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.
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- Journal of Clinical Immunology, 2019, v. 39, n. 3, p. 298, doi. 10.1007/s10875-019-00603-w
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- Publication type:
- Article
Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma.
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- Journal of Clinical Immunology, 2019, v. 39, n. 1, p. 112, doi. 10.1007/s10875-019-0589-0
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- Publication type:
- Article
Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.
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- Journal of Clinical Immunology, 2016, v. 36, n. 2, p. 149, doi. 10.1007/s10875-016-0240-2
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- Publication type:
- Article
Recurrent Respiratory Infections Revealing CD8α Deficiency.
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- Journal of Clinical Immunology, 2015, v. 35, n. 8, p. 692, doi. 10.1007/s10875-015-0213-x
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- Publication type:
- Article
Diagnosis of 22q11.2 Deletion Syndrome and Artemis Deficiency in Two Children with T-B-NK+ Immunodeficiency.
- Published in:
- Journal of Clinical Immunology, 2012, v. 32, n. 5, p. 1141, doi. 10.1007/s10875-012-9741-9
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- Publication type:
- Article
Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies.
- Published in:
- Clinical Infectious Diseases, 2017, v. 64, n. 1, p. 83, doi. 10.1093/cid/ciw675
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- Publication type:
- Article
Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort study.
- Published in:
- 2020
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- Publication type:
- journal article
An evolutionarily conserved coronin-dependent pathway defines cell population size.
- Published in:
- Science Signaling, 2022, v. 15, n. 759, p. 1, doi. 10.1126/scisignal.abo5363
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- Publication type:
- Article
Is neutralization of IFN‐γ sufficient to control inflammation in HLH?
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- Pediatric Blood & Cancer, 2021, v. 68, n. 3, p. 1, doi. 10.1002/pbc.28886
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- Publication type:
- Article
New dosing nomogram and population pharmacokinetic model for young and very young children receiving busulfan for hematopoietic stem cell transplantation conditioning.
- Published in:
- 2020
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- Publication type:
- journal article
Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report.
- Published in:
- 2019
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- Publication type:
- Letter
Coronin 1 Regulates Cognition and Behavior through Modulation of cAMP/Protein Kinase A Signaling.
- Published in:
- PLoS Biology, 2014, v. 12, n. 3, p. 1, doi. 10.1371/journal.pbio.1001820
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- Publication type:
- Article
Fatal encephalitis caused by Newcastle disease virus in a child.
- Published in:
- Acta Neuropathologica, 2021, v. 142, n. 3, p. 605, doi. 10.1007/s00401-021-02344-w
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- Publication type:
- Article
A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p.
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- Human Molecular Genetics, 2000, v. 9, n. 4, p. 583, doi. 10.1093/hmg/9.4.583
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- Publication type:
- Article
Strains Responsible for Invasive Meningococcal Disease in Patients With Terminal Complement Pathway Deficiencies.
- Published in:
- 2017
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- Publication type:
- journal article
Model of population pharmacokinetics of cidofovir in immunocompromised children with cytomegalovirus and adenovirus infection.
- Published in:
- Journal of Antimicrobial Chemotherapy (JAC), 2018, v. 73, n. 9, p. 2422, doi. 10.1093/jac/dky192
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- Publication type:
- Article
Model of population pharmacokinetics of cidofovir in immunocompromised children with cytomegalovirus and adenovirus infection.
- Published in:
- 2018
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- Publication type:
- journal article
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.
- Published in:
- European Journal of Immunology, 2006, v. 36, n. 1, p. 224, doi. 10.1002/eji.200535401
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- Publication type:
- Article
Phosphorylation of Artemis following irradiation-induced DNA damage.
- Published in:
- European Journal of Immunology, 2004, v. 34, n. 11, p. 3146, doi. 10.1002/eji.200425455
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- Publication type:
- Article