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Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry
Journal of allergy and clinical immunology, ISSN 0091-6749, 04/2019, Volume 143, Issue 4, pp. 1646 - 1649.e10
Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Genetic Testing - statistics & numerical data | Humans | Primary Immunodeficiency Diseases - diagnosis | Registries | Retrospective Studies | France | Primary Immunodeficiency Diseases - genetics | Multiple births | Immunoglobulins | Disease | Genomics | Overseas | Identification | Genomes | Medical screening | Embryos | Patients | Genetic screening | Gene sequencing | Next-generation sequencing | Genetic counseling | Diagnostic systems | Mutation | Diagnosis | Index Medicus | Abridged Index Medicus | Life Sciences | Biomolecules | Biochemistry, Molecular Biology
Journal Article
Gastroenterology (New York, N.Y. 1943), ISSN 0016-5085, 2016, Volume 150, Issue 3, pp. 672 - 683.e4
Gastroenterology and Hepatology | Signal Transduction | Genetic Analysis | Bone Morphogenetic Protein | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Immunohistochemistry | Humans | Middle Aged | Opossums | Hemochromatosis - blood | Male | Hemochromatosis - metabolism | Mutation, Missense | Case-Control Studies | Tandem Mass Spectrometry | Transfection | Bone Morphogenetic Protein 6 - genetics | Ferritins - blood | DNA Mutational Analysis | Chromatography, Liquid | Female | Hemochromatosis - genetics | Cell Line | Genetic Predisposition to Disease | Genetic Association Studies | Hepcidins - biosynthesis | Liver - metabolism | Smad Proteins, Receptor-Regulated - metabolism | Hepcidins - blood | Iron - metabolism | Phenotype | Animals | Bone Morphogenetic Protein 6 - metabolism | Biopsy | Heterozygote | Aged | Bone morphogenetic proteins | Genetic aspects | Peptides | Molecular genetics | Liver | Index Medicus | Abridged Index Medicus | Life Sciences
Journal Article
Nature reviews. Genetics, ISSN 1471-0056, 10/2019, Volume 20, Issue 10, pp. 582 - 598
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Phenotype | Animals | Neoplasms - genetics | Humans | Hematologic Diseases - genetics | Mosaicism | Mutation - genetics | Care and treatment | Genetic disorders | Diagnosis | Gene mutations | Health aspects | Homeostasis | Aging | Phenotypes | Mutation | Index Medicus | Life Sciences | Human health and pathology | Immunology | Hematology | Biochemistry, Molecular Biology | Genetics | Subcellular Processes | Molecular biology | Cellular Biology | Human genetics | Adaptive immunology
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Blood, ISSN 0006-4971, 02/2014, Volume 123, Issue 6, pp. 808 - 808
Anemia, Hypochromic - diagnosis | Anemia, Hypochromic - drug therapy | Diagnosis, Differential | Prognosis | Vitamin B Complex - therapeutic use | Humans | Mutation - genetics | Genetic Diseases, X-Linked - diagnosis | Anemia, Sideroblastic - genetics | Genetic Diseases, X-Linked - drug therapy | Anemia, Sideroblastic - diagnosis | 5-Aminolevulinate Synthetase - genetics | Pyridoxine - therapeutic use | Erythrocytes - pathology | Adult | Anemia, Hypochromic - genetics | Female | Genetic Diseases, X-Linked - genetics | Heterozygote | Anemia, Sideroblastic - drug therapy | X Chromosome Inactivation | Index Medicus | Abridged Index Medicus
Journal Article
Respirology (Carlton, Vic.), ISSN 1323-7799, 02/2019, Volume 24, Issue 2, pp. 97 - 98
interstitial lung disease | genetics | pulmonary fibrosis | Life Sciences & Biomedicine | Respiratory System | Science & Technology | Idiopathic Pulmonary Fibrosis | Telomere Shortening | Prognosis | Telomerase - genetics | Telomere | Humans | Lung diseases | Genetic analysis | Fibrosis | Index Medicus
Journal Article
Haematologica (Roma), ISSN 0390-6078, 06/2013, Volume 98, Issue 6, pp. 845 - 853
Life Sciences & Biomedicine | Hematology | Science & Technology | Membrane Proteins - deficiency | Phenotype | Serine Endopeptidases - deficiency | Anemia, Iron-Deficiency - etiology | Humans | Anemia, Iron-Deficiency - diagnosis | Anemia, Iron-Deficiency - therapy | Genes, Recessive | Index Medicus | Review
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Haematologica (Roma), ISSN 0390-6078, 10/2018, Volume 103, Issue 11, pp. 1796 - 1805
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Diabetes care, ISSN 0149-5992, 04/2020, Volume 43, Issue 4, pp. 828 - 834
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Diabetes Mellitus, Type 1 - epidemiology | Reactive Oxygen Species - metabolism | Diabetes Mellitus, Type 1 - surgery | Humans | Middle Aged | Diabetes Mellitus, Type 1 - metabolism | Lower Extremity - pathology | Male | Diabetes Mellitus, Type 1 - complications | Incidence | Time Factors | Adult | Female | Telomere - metabolism | Lower Extremity - surgery | Telomere Homeostasis - physiology | Oxidation-Reduction | Risk Factors | Diabetic Foot - surgery | Diabetic Foot - etiology | DNA - metabolism | Disease Progression | Diabetic Foot - metabolism | Diabetic Foot - epidemiology | Amputation - statistics & numerical data | Leukocytes - metabolism | Cohort Studies | Telomeres | Type 1 diabetes | Amputation | Physiological aspects | Genetic aspects | Diabetes | Research | Leukocytes | Risk factors | Immunoassay | Diabetes mellitus | DNA damage | Health risks | Risk | Diabetes mellitus (insulin dependent) | Regression analysis | Regression models | Deoxyguanosine | Dependent variables | Biomarkers | Aging | Oxidation | Research design | Deoxyribonucleic acid--DNA | Index Medicus
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The New England journal of medicine, ISSN 0028-4793, 12/2018, Volume 379, Issue 23, pp. 2209 - 2219
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Promoter Regions, Genetic | Genetic Predisposition to Disease | Idiopathic Pulmonary Fibrosis - genetics | Lung - pathology | Mucin-5B - genetics | Humans | Middle Aged | Lung - chemistry | Genotype | Male | Mucin-5B - analysis | Lung Diseases, Interstitial - complications | Arthritis, Rheumatoid - complications | Arthritis, Rheumatoid - genetics | Lung Diseases, Interstitial - genetics | Female | Aged | Gain of Function Mutation | Odds Ratio | Genetic aspects | Pulmonary fibrosis | Diagnosis | Research | Rheumatoid arthritis | Consortia | Pneumonia | Computed tomography | Lung diseases | Rheumatology | Fibrosis | Population | Health risk assessment | Population genetics | Index Medicus | Abridged Index Medicus | Life Sciences
Journal Article
Respirology (Carlton, Vic.), ISSN 1323-7799, 02/2019, Volume 24, Issue 2, pp. 97 - 98
Journal Article