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Children with Chronic Immune Thrombocytopenia Exhibit High Expression of Human Endogenous Retroviruses TRIM28 and SETDB1.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1569, doi. 10.3390/genes14081569
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- Article
Long COVID-19/post-COVID condition in children: do we all speak the same language?
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- 2023
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- Publication type:
- Letter
Successful treatment with MEK‐inhibitor in a patient with NRAS‐related cutaneous skeletal hypophosphatemia syndrome.
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- Genes, Chromosomes & Cancer, 2022, v. 61, n. 12, p. 740, doi. 10.1002/gcc.23092
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- Article
Diamond–Blackfan anaemia with iron overload: A serious issue.
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- British Journal of Haematology, 2022, v. 199, n. 2, p. 171, doi. 10.1111/bjh.18393
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- Article
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
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- Genes, 2022, v. 13, n. 8, p. 1314, doi. 10.3390/genes13081314
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- Article
Diagnosis and management of neutropenia in children: The approach of the Study Group on Neutropenia and Marrow Failure Syndromes of the Pediatric Italian Hemato‐Oncology Association (Associazione Italiana Emato‐Oncologia Pediatrica ‐ AIEOP)
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- Pediatric Blood & Cancer, 2022, v. 69, n. 6, p. 1, doi. 10.1002/pbc.29599
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- Article
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.893000
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- Publication type:
- Article
Autoantibodies Against Proteins Previously Associated With Autoimmunity in Adult and Pediatric Patients With COVID-19 and Children With MIS-C.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.841126
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- Article
The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis.
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- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.745032
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- Publication type:
- Article
Hemoglobin life-threatening value (1.9 g/dl) in good general condition: a pediatric case-report.
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- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01146-w
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- Article
COVID-19 in Children: Expressions of Type I/II/III Interferons, TRIM28, SETDB1, and Endogenous Retroviruses in Mild and Severe Cases.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7481, doi. 10.3390/ijms22147481
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- Article
Fatigue perception in a cohort of children with chronic immune thrombocytopenia and their caregivers using the PedsQL MFS: Real‐life multicenter experience of the Italian Association of Pediatric Hematology and Oncology (AIEOP).
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- Pediatric Blood & Cancer, 2021, v. 68, n. 3, p. 1, doi. 10.1002/pbc.28840
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- Publication type:
- Article
Management strategies for newly diagnosed immune thrombocytopenia in Italian AIEOP Centres: do we overtreat? Data from a multicentre, prospective cohort study.
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- Blood Transfusion (17232007), 2020, v. 18, n. 5, p. 396, doi. 10.2450/2020.0041-20
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- Publication type:
- Article
A 20‐year long term experience of the Italian Diamond‐Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?
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- British Journal of Haematology, 2020, v. 190, n. 1, p. 93, doi. 10.1111/bjh.16508
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- Article
Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
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- British Journal of Haematology, 2019, v. 185, n. 5, p. 994, doi. 10.1111/bjh.15688
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- Article
Reduction of CFU-GM and circulating hematopoietic progenitors in a subgroup of children with chronic neutropenia associated with severe infections and delayed recovery.
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- PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0213782
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- Article
Author Correction: Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35522-0
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- Article
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.
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- British Journal of Haematology, 2018, v. 183, n. 2, p. 276, doi. 10.1111/bjh.15531
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- Article
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia.
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- Human Mutation, 2018, v. 39, n. 8, p. 1102, doi. 10.1002/humu.23551
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- Article
Autoimmune neutropenia of childhood secondary to other autoimmune disorders: Data from the Italian neutropenia registry.
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- American Journal of Hematology, 2017, v. 92, n. 9, p. E546, doi. 10.1002/ajh.24803
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- Article
Recombinant erythropoietin vs. blood transfusion care in infants with hereditary spherocytosis: a retrospective cohort study of A.I.E.O.P. patients (Associazione Italiana Emato-Oncologia Pediatrica).
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- American Journal of Hematology, 2017, v. 92, n. 6, p. E103, doi. 10.1002/ajh.24713
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- Article
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.
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- Journal of Bone & Mineral Research, 2017, v. 32, n. 1, p. 99, doi. 10.1002/jbmr.2929
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- Article
Mycophenolate mofetil for the treatment of children with immune thrombocytopenia and Evans syndrome. A retrospective data review from the Italian association of paediatric haematology/oncology.
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- British Journal of Haematology, 2016, v. 175, n. 3, p. 490, doi. 10.1111/bjh.14261
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- Publication type:
- Article
Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology)
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- American Journal of Hematology, 2016, v. 91, n. 7, p. 666, doi. 10.1002/ajh.24373
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- Article
Absolute Reticulocyte Count and Reticulocyte Hemoglobin Content as Predictors of Early Response to Exclusive Oral Iron in Children with Iron Deficiency Anemia.
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- Anemia (20901267), 2016, p. 1, doi. 10.1155/2016/7345835
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- Article
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.
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- British Journal of Haematology, 2016, v. 172, n. 5, p. 782, doi. 10.1111/bjh.13880
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- Article
Autoimmune neutropenia of infancy: Data from the Italian neutropenia registry.
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- American Journal of Hematology, 2015, v. 90, n. 12, p. E221, doi. 10.1002/ajh.24187
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- Publication type:
- Article
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 6, p. 500, doi. 10.1002/mgg3.160
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- Publication type:
- Article
Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy.
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- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138200
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- Article
Are all cases of paediatric essential thrombocythaemia really myeloproliferative neoplasms? Analysis of a large cohort.
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- British Journal of Haematology, 2015, v. 169, n. 4, p. 584, doi. 10.1111/bjh.13329
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- Article
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.
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- American Journal of Hematology, 2014, v. 89, n. 10, p. 985, doi. 10.1002/ajh.23807
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- Article
Efficacy of combined intravenous immunoglobulins and steroids in children with primary immune thrombocytopenia and persistent bleeding symptoms.
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- Blood Transfusion (17232007), 2014, v. 12, n. 3, p. 340, doi. 10.2450/2014.0185-13
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- Article
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.
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- Pediatric Blood & Cancer, 2014, v. 61, n. 7, p. 1319, doi. 10.1002/pbc.24944
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- Publication type:
- Article
Paroxysmal Nocturnal Hemoglobinuria Clones in Children with Acquired Aplastic Anemia: A Multicentre Study.
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- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101948
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- Publication type:
- Article
Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry.
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- British Journal of Haematology, 2014, v. 165, n. 5, p. 673, doi. 10.1111/bjh.12787
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- Publication type:
- Article
Variations of the <i>UNC13D</i> Gene in Patients with Autoimmune Lymphoproliferative Syndrome.
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- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068045
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- Article
Successful use of antihistamines in severe hypereosinophilia.
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- Pediatric Reports, 2012, v. 4, n. 2, p. 94, doi. 10.4081/pr.2012.e26
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- Article
Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome.
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- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035986
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- Publication type:
- Article
Congenital and acquired neutropenias consensus guidelines on therapy and follow-up in childhood from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).
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- American Journal of Hematology, 2012, v. 87, n. 2, p. 238, doi. 10.1002/ajh.22242
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- Publication type:
- Article
Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).
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- Pediatric Blood & Cancer, 2011, v. 57, n. 1, p. 10, doi. 10.1002/pbc.23108
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- Publication type:
- Article
Effect of eradication of Helicobacter pylori in children with chronic immune thrombocytopenia: A prospective, controlled, multicenter study.
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- Pediatric Blood & Cancer, 2011, v. 56, n. 2, p. 273, doi. 10.1002/pbc.22770
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- Publication type:
- Article
Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene.
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- American Journal of Hematology, 2010, v. 85, n. 12, p. 915, doi. 10.1002/ajh.21866
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- Article
Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia.
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- Pediatric Blood & Cancer, 2010, v. 55, n. 3, p. 550, doi. 10.1002/pbc.22589
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- Publication type:
- Article
Paroxysmal nocturnal haemoglobinuria clones in children with acquired aplastic anaemia: a prospective single centre study.
- Published in:
- 2010
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- Publication type:
- Letter
Management of Chronic Childhood Immune Thrombocytopenic Purpura: AIEOP Consensus Guidelines.
- Published in:
- Acta Haematologica, 2010, v. 123, n. 2, p. 96, doi. 10.1159/000268855
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- Publication type:
- Article
Severe iron overload in Blackfan-Diamond anemia: A case-control study.
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- American Journal of Hematology, 2009, v. 84, n. 11, p. 729, doi. 10.1002/ajh.21541
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- Publication type:
- Article
Analysis of telomeres in peripheral blood cells from patients with bone marrow failure.
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- Pediatric Blood & Cancer, 2009, v. 53, n. 3, p. 411, doi. 10.1002/pbc.22107
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- Publication type:
- Article
NOLA1 gene mutations in acquired aplastic anemia.
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- Pediatric Blood & Cancer, 2009, v. 52, n. 3, p. 376, doi. 10.1002/pbc.21813
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- Publication type:
- Article
Long-term follow-up analysis after rituximab therapy in children with refractory symptomatic ITP: identification of factors predictive of a sustained response.
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- British Journal of Haematology, 2009, v. 144, n. 4, p. 552, doi. 10.1111/j.1365-2141.2008.07487.x
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- Publication type:
- Article
Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
- Published in:
- BMC Genomics, 2009, v. 10, p. 442, doi. 10.1186/1471-2164-10-442
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- Publication type:
- Article