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Parental Understanding of Their Child's Germline Genomic Testing: Intent of Disclosure to Their Child and Family.
- Published in:
- Journal of Personalized Medicine, 2023, v. 13, n. 12, p. 1656, doi. 10.3390/jpm13121656
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- Article
Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician.
- Published in:
- 2011
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- Publication type:
- journal article
The Influence of Adolescence on Parents’ Perspectives of Testing and Discussing Inherited Cancer Predisposition.
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- Journal of Genetic Counseling, 2018, v. 27, n. 6, p. 1395, doi. 10.1007/s10897-018-0267-z
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- Article
Clinical Outcomes and Complications of Pituitary Blastoma.
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- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. 351, doi. 10.1210/clinem/dgaa857
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- Publication type:
- Article
Combination of NKT14m and Low Dose IL-12 Promotes Invariant Natural Killer T Cell IFN-γ Production and Tumor Control.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 5085, doi. 10.3390/ijms21145085
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- Article
Cancer Immunotherapeutic Potential of NKTT320, a Novel, Invariant, Natural Killer T Cell-Activating, Humanized Monoclonal Antibody.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4317, doi. 10.3390/ijms21124317
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- Article
SLAM-SAP-Fyn: Old Players with New Roles in iNKT Cell Development and Function.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 19, p. 4797, doi. 10.3390/ijms20194797
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- Article
Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency.
- Published in:
- 2009
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- Publication type:
- journal article
Selective generation of functional somatically mutated IgM+CD27+, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease.
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- 2006
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- Publication type:
- journal article
Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells.
- Published in:
- 2005
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- Publication type:
- journal article
Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene.
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- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1229507
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- Publication type:
- Article
Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.
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- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.777851
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- Publication type:
- Article
Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP.
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- International Immunology, 2006, v. 18, n. 7, p. 1055, doi. 10.1093/intimm/dxl039
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- Article
Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 862, doi. 10.1002/ajmg.a.37013
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- Publication type:
- Article
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 1929, doi. 10.1002/ajmg.a.36045
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- Publication type:
- Article
Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low- Level Uniparental Disomy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 993, doi. 10.1002/ajmg.a.35831
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- Article
Regulation of NKT cell development by SAP, the protein defective in XLP.
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- Nature Medicine, 2005, v. 11, n. 3, p. 340, doi. 10.1038/nm1189
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- Article
Hemophagocytic lymphohistiocytosis‐like toxicity (carHLH) after CD19‐specific CAR T‐cell therapy.
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- British Journal of Haematology, 2021, v. 194, n. 4, p. 701, doi. 10.1111/bjh.17662
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- Article
Li-Fraumeni syndrome: a paradigm for the understanding of hereditary cancer predisposition.
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- British Journal of Haematology, 2017, v. 176, n. 4, p. 539, doi. 10.1111/bjh.14461
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- Article
Malignancy-associated haemophagocytic lymphohistiocytosis in children and adolescents.
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- British Journal of Haematology, 2015, v. 170, n. 4, p. 539, doi. 10.1111/bjh.13462
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- 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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- Article
Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.
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- Nature Genetics, 2000, v. 24, n. 3, p. 266, doi. 10.1038/73480
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- Article
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.
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- Genes, Chromosomes & Cancer, 2024, v. 63, n. 1, p. 1, doi. 10.1002/gcc.23195
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- Article
Ruxolitinib, a JAK1/2 Inhibitor, Ameliorates Cytokine Storm in Experimental Models of Hyperinflammation Syndrome.
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- Frontiers in Pharmacology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphar.2021.650295
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- Article
The Immunology of Macrophage Activation Syndrome.
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- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00119
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- Publication type:
- Article
Synergistic Signaling of TLR and IFNα/β Facilitates Escape of IL-18 Expression from Endotoxin Tolerance.
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- 2020
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- Publication type:
- journal article
Transcriptional control of invariant NKT cell development Das et al Regulation of NKT cell differentiation.
- Published in:
- Immunological Reviews, 2010, v. 238, n. 1, p. 195, doi. 10.1111/j.1600-065X.2010.00962.x
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- Publication type:
- Article
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.
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- Immunological Reviews, 2005, v. 203, n. 1, p. 180, doi. 10.1111/j.0105-2896.2005.00230.x
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- Article
Creating a cancer genomics curriculum for pediatric hematology‐oncology fellows: A national needs assessment.
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- Cancer Medicine, 2021, v. 10, n. 6, p. 2026, doi. 10.1002/cam4.3787
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- Publication type:
- Article
Cellular and transcriptional impacts of Janus kinase and/or IFN-gamma inhibition in a mouse model of primary hemophagocytic lymphohistiocytosis.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1137037
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- Publication type:
- Article
Cellular and transcriptional impacts of Janus kinase and/or IFN-gamma inhibition in a mouse model of primary hemophagocytic lymphohistiocytosis.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1137037
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- Publication type:
- Article
Insights into the cellular pathophysiology of familial hemophagocytic lymphohistiocytosis.
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- Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1147603
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- Article
Enhanced T cell responses due to diacylglycerol kinase ? deficiency.
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- Nature Immunology, 2003, v. 4, n. 9, p. 882, doi. 10.1038/ni958
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- Article
SAP: natural inhibitor or grand SLAM of T cell activation?
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- Nature Immunology, 2001, v. 2, n. 8, p. 665, doi. 10.1038/90595
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- Publication type:
- Article
Benign infiltrative myofibroblastic neoplasms of childhood with USP6 gene rearrangement.
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- Histopathology, 2020, v. 77, n. 5, p. 760, doi. 10.1111/his.14182
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- Publication type:
- Article
Use of the JAK Inhibitor Ruxolitinib in the Treatment of Hemophagocytic Lymphohistiocytosis.
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- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.614704
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- Publication type:
- Article
Stepwise phosphorylation of p65 promotes NF-κB activation and NK cell responses during target cell recognition.
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- Nature Communications, 2016, v. 7, n. 5, p. 11686, doi. 10.1038/ncomms11686
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- Article
Inhibition of diacylglycerol kinase α restores restimulation-induced cell death and reduces immunopathology in XLP-1.
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- Science Translational Medicine, 2016, v. 8, n. 321, p. 1, doi. 10.1126/scitranslmed.aad1565
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- Article
Genomes for Nurses: Understanding and Overcoming Barriers to Nurses Utilizing Genomics.
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- Journal of Pediatric Hematology/Oncology Nursing, 2024, v. 41, n. 2, p. 140, doi. 10.1177/27527530231214540
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- Publication type:
- Article
Recent advances in Wilms' tumor predisposition.
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- Human Molecular Genetics, 2020, v. 29, n. R2, p. R138, doi. 10.1093/hmg/ddaa091
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- Article
Medical radiation exposure and risk of retinoblastoma resulting from new germline RB1 mutation.
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- International Journal of Cancer, 2011, v. 128, n. 10, p. 2393, doi. 10.1002/ijc.25565
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- Article
Outcomes for children with recurrent/refractory atypical teratoid rhabdoid tumor: A single‐institution study with molecular correlation.
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- Pediatric Blood & Cancer, 2024, v. 71, n. 10, p. 1, doi. 10.1002/pbc.31208
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- Publication type:
- Article
Germline genomic findings in children and young adults with melanocytic tumors.
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- Pediatric Blood & Cancer, 2023, v. 70, n. 7, p. 1, doi. 10.1002/pbc.30361
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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
Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: Recommendations from the North American Consortium for Histiocytosis (NACHO).
- Published in:
- 2019
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- Publication type:
- journal article
Two-year-old female with EBV-positive diffuse large B-cell lymphoma and subsequent CNS involvement with neurolymphomatosis.
- Published in:
- 2018
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- Publication type:
- journal article
Parent-child communication surrounding genetic testing for Li-Fraumeni syndrome: Living under the cloud of cancer.
- Published in:
- 2018
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- Publication type:
- journal article
Clear cell sarcoma of kidney involving a horseshoe kidney and harboring EGFR internal tandem duplication.
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- 2017
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- Publication type:
- journal article
Salvage therapy for refractory hemophagocytic lymphohistiocytosis: A review of the published experience.
- Published in:
- 2017
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- Publication type:
- journal article
Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.
- Published in:
- 2016
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- Publication type:
- journal article