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A single-center experience in 20 patients with infantile malignant osteopetrosis.
- Published in:
- American Journal of Hematology, 2009, v. 84, n. 8, p. 473, doi. 10.1002/ajh.21447
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- Publication type:
- Article
EFSA Pilot Project on NAMs for the hazard assessment of nanofibers. Lot 2: 'Exploring the use of gut‐on‐a‐chip models for risk assessments of nanofibers'.
- Published in:
- EFSA Supporting Publications, 2023, v. 20, n. 11, p. 1, doi. 10.2903/sp.efsa.2023.EN-8230
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- Publication type:
- Article
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 73, doi. 10.1007/s004390051012
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- Publication type:
- Article
A pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells.
- Published in:
- Scientific Reports, 2015, p. 12327, doi. 10.1038/srep12327
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- Publication type:
- Article
Do All BRCA 1 and 2 Carriers with a Known and Unknown Breast Cancer Choose Bilateral Mastectomies?
- Published in:
- 2018
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- Publication type:
- journal article
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 3, p. 531, doi. 10.1002/jbmr.4200
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- Publication type:
- Article
Absence of Dipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss.
- Published in:
- Journal of Bone & Mineral Research, 2019, v. 34, n. 11, p. 2133, doi. 10.1002/jbmr.3829
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- Publication type:
- Article
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.
- Published in:
- Journal of Bone & Mineral Research, 2017, v. 32, n. 1, p. 99, doi. 10.1002/jbmr.2929
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- Publication type:
- Article
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
- Published in:
- Journal of Bone & Mineral Research, 2015, v. 30, n. 10, p. 1814, doi. 10.1002/jbmr.2517
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- Publication type:
- Article
As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene.
- Published in:
- Journal of Bone & Mineral Research, 2014, v. 29, n. 7, p. 1646, doi. 10.1002/jbmr.2203
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- Publication type:
- Article
A New Familial Sclerosing Bone Dysplasia.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 3, p. 676, doi. 10.1359/jbmr.090733
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- Publication type:
- Article
Clinical Vignette: Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in the TCIRGJ Gene in Five Osteopetrotic Patients.
- Published in:
- Journal of Bone & Mineral Research, 2009, v. 24, n. 1, p. 162, doi. 10.1359/jbmr.080818
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- Publication type:
- Article
Preclinical modeling highlights the therapeutic potential of hematopoietic stem cell gene editing for correction of SCID-X1.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 411, p. 1, doi. 10.1126/scitranslmed.aan0820
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- Publication type:
- Article
Insights into Cadmium-Induced Carcinogenesis through an In Vitro Study Using C3H10T1/2Cl8 Cells: The Multifaceted Role of Mitochondria.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10837, doi. 10.3390/ijms221910837
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- Publication type:
- Article
Gut Microbiota–Host Interactions in Inborn Errors of Immunity.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1416, doi. 10.3390/ijms22031416
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- Publication type:
- Article
3D Bone Biomimetic Scaffolds for Basic and Translational Studies with Mesenchymal Stem Cells.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 10, p. 3150, doi. 10.3390/ijms19103150
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- Publication type:
- Article
A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient.
- Published in:
- 2012
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- Publication type:
- journal article
A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient.
- Published in:
- Calcified Tissue International, 2012, v. 91, n. 4, p. 250, doi. 10.1007/s00223-012-9631-4
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- Publication type:
- Article
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
- Published in:
- 2009
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- Publication type:
- journal article
The RANKL-RANK Axis: A Bone to Thymus Round Trip.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00629
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- Publication type:
- Article
Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00447
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- Publication type:
- Article
One Disease, Many Genes: Implications for the Treatment of Osteopetroses.
- Published in:
- Frontiers in Endocrinology, 2019, p. N.PAG, doi. 10.3389/fendo.2019.00085
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- Publication type:
- Article
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 960, doi. 10.1038/ng2076
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- Publication type:
- Article
Noninvasive assessment of breast cancer risk using time-resolved diffuse optical spectroscopy.
- Published in:
- Journal of Biomedical Optics, 2010, v. 15, n. 6, p. 060501, doi. 10.1117/1.3506043
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- Publication type:
- Article
Errata: Novel nontoxic mitochondrial probe for confocal fluorescence microscopy.
- Published in:
- Journal of Biomedical Optics, 2006, v. 11, n. 6, p. 069802-1, doi. 10.1117/1.2404967
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- Publication type:
- Article
Novel nontoxic mitochondrial probe for confocal fluorescence microscopy.
- Published in:
- Journal of Biomedical Optics, 2006, v. 11, n. 3, p. 034014-1, doi. 10.1117/1.2206173
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- Publication type:
- Article
Correction of Murine Rag2 Severe Combined Immunodeficiency by Lentiviral Gene Therapy Using a Codon-optimized RAG2 Therapeutic Transgene.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 10, p. 1968, doi. 10.1038/mt.2012.110
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- Publication type:
- Article
Corrigendum to “Evidence for Long-term Efficacy and Safety of Gene Therapy for Wiskott–Aldrich Syndrome in Preclinical Models”.
- Published in:
- 2009
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- Publication type:
- Correction notice
Evidence for Long-term Efficacy and Safety of Gene Therapy for Wiskott–Aldrich Syndrome in Preclinical Models.
- Published in:
- Molecular Therapy, 2009, v. 17, n. 6, p. 1073, doi. 10.1038/mt.2009.31
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- Publication type:
- Article
Severe Combined Immunodeficiency in Serbia and Montenegro Between Years 1986 and 2010: A Single-Center Experience.
- Published in:
- Journal of Clinical Immunology, 2014, v. 34, n. 3, p. 304, doi. 10.1007/s10875-014-9991-9
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- Publication type:
- Article
Severe Combined Immunodeficiency in Greek Children over a 20-Year Period.
- Published in:
- Journal of Clinical Immunology, 2011, v. 31, n. 5, p. 778, doi. 10.1007/s10875-011-9564-0
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- Publication type:
- Article
Genetics of Osteopetrosis.
- Published in:
- Current Osteoporosis Reports, 2018, v. 16, n. 1, p. 13, doi. 10.1007/s11914-018-0415-2
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- Publication type:
- Article
Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome.
- Published in:
- Cancer Gene Therapy, 2000, v. 7, n. 10, p. 1299, doi. 10.1038/sj.cgt.0234
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- Publication type:
- Article
Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome.
- Published in:
- Cancer Gene Therapy, 2000, v. 7, n. 10, p. 1299, doi. 10.1038/sj.cgt.0234
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- Publication type:
- Article
Prenatal diagnosis of RAG-deficient Omenn syndrome.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Corrigendum: Rag defects and thymic stroma: lessons from animal models.
- Published in:
- 2014
- By:
- Publication type:
- Correction Notice
Rag defects and thymic stroma: lessons from animal models.
- Published in:
- Frontiers in Immunology, 2014, v. 5, p. 1, doi. 10.3389/fimmu.2014.00259
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- Publication type:
- Article
Autoimmunity in Wiskott-Aldrich syndrome: an unsolved enigma.
- Published in:
- Frontiers in Immunology, 2012, v. 3, p. 1, doi. 10.3389/fimmu.2012.00209
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- Publication type:
- Article
Wiskott- Aldrich syndrome protein deficiency in natural killer and dendritic cells affects antitumor immunity.
- Published in:
- European Journal of Immunology, 2014, v. 44, n. 4, p. 1039, doi. 10.1002/eji.201343935
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- Publication type:
- Article
Development of Central Nervous System Autoimmunity Is Impaired in the Absence of Wiskott-Aldrich Syndrome Protein.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086942
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- Publication type:
- Article
Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement.
- Published in:
- Journal of Bone & Mineral Research, 2006, v. 21, n. 7, p. 1098, doi. 10.1359/jbmr.060403
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- Publication type:
- Article
Polymorphisms of the CLCN7 Gene Are Associated With BMD in Women.
- Published in:
- Journal of Bone & Mineral Research, 2005, v. 20, n. 11, p. 1960, doi. 10.1359/JBMR.050717
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- Publication type:
- Article
In Vitro Differentiation of CD14 Cells From Osteopetrotic Subjects: Contrasting Phenotypes With TCIRG1, CLCN7, and Attachment Defects.
- Published in:
- Journal of Bone & Mineral Research, 2004, v. 19, n. 8, p. 1329, doi. 10.1359/JBMR.040403
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- Publication type:
- Article
Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis.
- Published in:
- Journal of Bone & Mineral Research, 2003, v. 18, n. 10, p. 1740, doi. 10.1359/jbmr.2003.18.10.1740
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- Publication type:
- Article
Murine Rankl<sup>−/−</sup> Mesenchymal Stromal Cells Display an Osteogenic Differentiation Defect Improved by a RANKL-Expressing Lentiviral Vector.
- Published in:
- Stem Cells, 2017, v. 35, n. 5, p. 1365, doi. 10.1002/stem.2574
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- Publication type:
- Article
Impaired Osteoblastogenesis in a Murine Model of Dominant Osteogenesis Imperfecta: A New Target for Osteogenesis Imperfecta Pharmacological Therapy.
- Published in:
- Stem Cells, 2012, v. 30, n. 7, p. 1465, doi. 10.1002/stem.1107
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- Publication type:
- Article
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
- Published in:
- Nature Genetics, 2000, v. 25, n. 3, p. 343, doi. 10.1038/77131
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- Publication type:
- Article
Omenn Syndrome: inflammation and autoimmunity.
- Published in:
- 2011
- By:
- Publication type:
- Abstract
The genetic and biochemical basis of Omenn syndrome.
- Published in:
- Immunological Reviews, 2000, v. 178, n. 1, p. 64, doi. 10.1034/j.1600-065x.2000.17818.x
- By:
- Publication type:
- Article
Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients.
- Published in:
- 2015
- By:
- Publication type:
- journal article