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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
Gene Modification and Three‐Dimensional Scaffolds as Novel Tools to Allow the Use of Postnatal Thymic Epithelial Cells for Thymus Regeneration Approaches.
- Published in:
- Stem Cells Translational Medicine, 2019, v. 8, n. 10, p. 1107, doi. 10.1002/sctm.18-0218
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- Publication type:
- Article
Mesenchymal Stromal Cell‐Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl‐Deficient Osteopetrosis.
- Published in:
- Stem Cells Translational Medicine, 2019, v. 8, n. 1, p. 22, doi. 10.1002/sctm.18-0085
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- Publication type:
- Article
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy.
- Published in:
- Stem Cells Translational Medicine, 2017, v. 6, n. 2, p. 352, doi. 10.5966/sctm.2015-0414
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- Publication type:
- Article
Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1268620
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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
Quantitation of the Rank-Rankl Axis in Primary Biliary Cholangitis.
- Published in:
- PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0159612
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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
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
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
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- Publication type:
- Article
Osteopetrosis mimicking juvenile myelomonocytic leukemia.
- Published in:
- Pediatrics International, 2014, v. 56, n. 5, p. 779, doi. 10.1111/ped.12342
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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
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
Prenatal diagnosis of RAG-deficient Omenn syndrome.
- Published in:
- 2000
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- Publication type:
- journal 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
Mitochondria in tumor cells studied by laser scanning confocal microscopy.
- Published in:
- Journal of Biomedical Optics, 2004, v. 9, n. 2, p. 385, doi. 10.1117/1.1646414
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- Publication type:
- Article
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
Damaging-agent sensitivity of Artemis-deficient cell lines.
- Published in:
- European Journal of Immunology, 2005, v. 35, n. 4, p. 1250, doi. 10.1002/eji.200425555
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- Publication type:
- Article
A PERSON FIT TEST FOR IRT MODELS FOR POLYTOMOUS ITEMS.
- Published in:
- Psychometrika, 2007, v. 72, n. 2, p. 159, doi. 10.1007/s11336-003-1081-5
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- Publication type:
- Article
Omenn Syndrome: inflammation and autoimmunity.
- Published in:
- 2011
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- Publication type:
- Abstract
The influence of plasma technology coupled to chemical grafting on the cell growth compliance of 3D hydroxyapatite scaffolds.
- Published in:
- Journal of Materials Science: Materials in Medicine, 2012, v. 23, n. 11, p. 2727, doi. 10.1007/s10856-012-4727-y
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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
MRI in identifying hepatic steatosis in obese children and relation to ultrasonography and metabolic findings.
- Published in:
- 2008
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- Publication type:
- journal article
Social investment, labour market participation and public debt sustainability: An empirical analysis of European countries.
- Published in:
- Social Policy & Administration, 2023, v. 57, n. 7, p. 999, doi. 10.1111/spol.12907
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- Publication type:
- 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
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
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).
- Published in:
- Nature, 1995, v. 377, n. 6544, p. 65, doi. 10.1038/377065a0
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- Publication type:
- Article
In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott-Aldrich Syndrome Protein-Deficient B Cells.
- Published in:
- Frontiers in Immunology, 2017, v. 8, p. 1, doi. 10.3389/fimmu.2017.00490
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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
Dental Hard Tissue Ablation Using Picoseconds Pulsed Laser Emitting at 532 and 266 nm Wavelength.
- Published in:
- Journal of Laser Micro / Nanoengineering, 2013, v. 8, n. 3, p. 192, doi. 10.2961/jlmn.2013.03.0002
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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
Platelets in Wiskott‐Aldrich syndrome: Victims or executioners?
- Published in:
- Journal of Leukocyte Biology, 2018, v. 103, n. 3, p. 577, doi. 10.1189/jlb.5MR0617-257R
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- Publication type:
- Article
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.
- Published in:
- Nature Medicine, 2003, v. 9, n. 4, p. 399, doi. 10.1038/nm842
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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
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
Premature Senescence and Increased Oxidative Stress in the Thymus of Down Syndrome Patients.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.669893
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- Publication type:
- Article
Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.607926
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- Publication type:
- Article