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2007, ISBN 9781860946455
Book
Book
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 2280 - 2280
Defects in DNA repair can cause various genetic diseases with severe pathological phenotypes. Fanconi anemia ( FA) is a rare disease characterized by bone... 
UBIQUITINATION | DAMAGE RESPONSE | CHROMATIN | CROSS-LINK REPAIR | HUMAN-CELLS | MULTIDISCIPLINARY SCIENCES | SENSITIVITY | HOMOLOGOUS RECOMBINATION | BRCA1 | ENRICHMENT ANALYSIS | ASSOCIATION | Genetic Therapy | Ubiquitin-Specific Proteases - genetics | Fanconi Anemia Complementation Group D2 Protein - genetics | Fanconi Anemia - metabolism | Humans | DNA Repair - physiology | DNA Repair - genetics | Fanconi Anemia Complementation Group C Protein - genetics | Fanconi Anemia Complementation Group A Protein - genetics | Fanconi Anemia Complementation Group D2 Protein - deficiency | Fanconi Anemia Complementation Group A Protein - metabolism | Fanconi Anemia Complementation Group Proteins - metabolism | Ubiquitination | Fanconi Anemia Complementation Group G Protein - genetics | Ubiquitin-Specific Proteases - deficiency | Fanconi Anemia Complementation Group G Protein - deficiency | BRCA1 Protein - metabolism | Fanconi Anemia - genetics | Ubiquitin-Specific Proteases - metabolism | Chromosomal Instability | Rad51 Recombinase - metabolism | Cell Line | Fanconi Anemia Complementation Group Proteins - deficiency | Fanconi Anemia Complementation Group Proteins - genetics | Fanconi Anemia Complementation Group G Protein - metabolism | Gene Knockout Techniques | Fanconi Anemia Complementation Group C Protein - metabolism | Fanconi Anemia Complementation Group D2 Protein - metabolism | Fanconi Anemia Complementation Group A Protein - deficiency | CRISPR-Cas Systems | Fanconi Anemia Complementation Group C Protein - deficiency | Fanconi Anemia - therapy | DNA Damage | Histones - metabolism | Mutation | Index Medicus
Journal Article
1989, ISBN 9780443082429, xi, 476
Book
1966, Monographie annuelle de la Société française de biologie clinique, 1967, 208
Book
1883, 276
Book
1922, Neue deutsche Chirurgie ... hrsg. von H. Küttner, 28. Bd., xii, 89 p. illus., diagrs.
Book
European Journal of Haematology, ISSN 0902-4441, 09/2018, Volume 101, Issue 3, pp. 297 - 304
BackgroundMost patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias,... 
red cell disorders | DYSERYTHROPOIETIC ANEMIA | HEREDITARY STOMATOCYTOSIS | GENE | RECOMMENDATIONS | PIEZO1 | PYRUVATE-KINASE DEFICIENCY | SPLENECTOMY | MUTATIONS | HEMATOLOGY | BONE-MARROW FAILURE | NONSPHEROCYTIC HEMOLYTIC-ANEMIA | Genetic Testing | Anemia - blood | Anemia, Hemolytic, Congenital Nonspherocytic - diagnosis | Humans | Anemia, Dyserythropoietic, Congenital - diagnosis | Child, Preschool | Pyruvate Metabolism, Inborn Errors - genetics | Erythrocyte Indices | Male | Young Adult | Hydrops Fetalis - genetics | Anemia, Sideroblastic - diagnosis | Pyruvate Metabolism, Inborn Errors - diagnosis | Adult | Female | Child | Genetic Predisposition to Disease | Anemia, Dyserythropoietic, Congenital - therapy | Genetic Association Studies | Hydrops Fetalis - diagnosis | Anemia - diagnosis | Anemia, Dyserythropoietic, Congenital - genetics | Computational Biology | Anemia - therapy | Rare Diseases | Anemia, Hemolytic, Congenital - genetics | Pyruvate Kinase - deficiency | Anemia - congenital | Anemia, Sideroblastic - genetics | Anemia, Hemolytic, Congenital - diagnosis | Bone Marrow - pathology | Adolescent | High-Throughput Nucleotide Sequencing | Mutation | Pyruvate Kinase - genetics | Anemia, Hemolytic, Congenital Nonspherocytic - genetics | Anemia | Genetic disorders | Medical genetics | Phenotypes | Genetic counseling | Pyruvate kinase | Pyruvic acid | Sideroblastic anemia | Diagnosis | Kinases | Genetic screening | Index Medicus
Journal Article
1980, ISBN 0443080518, xviii, 458
Book
Journal of the American College of Cardiology, ISSN 0735-1097, 09/2018, Volume 72, Issue 13, pp. B15 - B16
Journal Article
Clinical Chemistry, ISSN 0009-9147, 10/2017, Volume 63, Issue 10, pp. 1614 - 1623
BACKGROUND: There is much interest in the tissue of origin of circulating DNA in plasma. Data generated using DNA methylation markers have suggested that... 
ANEUPLOIDY | NONINVASIVE PRENATAL-DIAGNOSIS | BARR-VIRUS DNA | RAPID CLEARANCE | BLUEPRINT | EPIGENETIC SIGNATURE | CLASSIFICATION | FETAL DNA | MEDICAL LABORATORY TECHNOLOGY | CANCER | BLOOD | Erythropoiesis | beta-Thalassemia - pathology | Anemia - blood | Humans | Erythroblasts - metabolism | beta-Thalassemia - genetics | Anemia - pathology | Myelodysplastic Syndromes - blood | Anemia, Aplastic - blood | Anemia, Iron-Deficiency - blood | DNA - blood | Anemia, Aplastic - diagnosis | Anemia - genetics | DNA Methylation | Anemia, Aplastic - genetics | beta-Thalassemia - blood | Anemia, Aplastic - pathology | Diagnosis, Differential | Anemia - diagnosis | beta-Thalassemia - diagnosis | DNA - genetics | Myelodysplastic Syndromes - diagnosis | Anemia, Iron-Deficiency - diagnosis | Anemia, Iron-Deficiency - genetics | Anemia, Iron-Deficiency - pathology | Ferrochelatase - genetics | Myelodysplastic Syndromes - genetics | Myelodysplastic Syndromes - pathology | Erythroblasts - pathology | Genetic research | Methylation | Analysis | Genes | DNA | Aplastic anemia | Iron | Blood | Blood plasma | Etiology | Lymphocytes | DNA methylation | Bone marrow | Bioindicators | Differential diagnosis | Signatures | Deoxyribonucleic acid--DNA | Quantitative analysis | Nutrient deficiency | Anemia | Ferrochelatase | Neutrophils | Thalassemia | Patients | Loci | Hemopoiesis | Polymerase chain reaction | Erythroblasts | Epigenetics | Biomarkers | Plasmas (physics) | Index Medicus
Journal Article
Molecular Cell, ISSN 1097-2765, 01/2017, Volume 65, Issue 2, pp. 247 - 259
Monoubiquitination and deubiquitination of FANCD2:FANCI heterodimer is central to DNA repair in a pathway that is defective in the cancer predisposition... 
core complex | RING E3 | Fanconi anemia | FANCD2 | deubiquitination | FANCB | enzyme mechanism | monoubiquitination | DNA repair | NUCLEAR ACCUMULATION | MONOUBIQUITINATED FANCD2 | TARGETED DISRUPTION | COMPLEX | DNA-REPAIR PATHWAY | CROSS-LINK REPAIR | BIOCHEMISTRY & MOLECULAR BIOLOGY | PROTEINS | DAMAGE | COMPLEMENTATION GROUP-B | LIGASE | CELL BIOLOGY | Fanconi Anemia Complementation Group D2 Protein - genetics | Fanconi Anemia - metabolism | Humans | Multiprotein Complexes | Protein Multimerization | Substrate Specificity | Fanconi Anemia Complementation Group A Protein - metabolism | DNA-Binding Proteins - metabolism | Fanconi Anemia Complementation Group Proteins - metabolism | Ubiquitination | Transfection | Time Factors | Fanconi Anemia - genetics | Ubiquitin-Specific Proteases - metabolism | Recombinant Proteins - metabolism | Cell Line | Fanconi Anemia Complementation Group Proteins - genetics | Nuclear Proteins - metabolism | Fanconi Anemia Complementation Group G Protein - metabolism | DNA - metabolism | Inhibitor of Differentiation Protein 2 - metabolism | DNA - genetics | Fanconi Anemia Complementation Group C Protein - metabolism | Fanconi Anemia Complementation Group D2 Protein - metabolism | Protein Binding | Fanconi Anemia Complementation Group L Protein - metabolism | Fanconi Anemia Complementation Group E Protein - metabolism | Ubiquitin | Chemotherapy | Ligases | Genomics | Research institutes | Cancer | Fanconi's anemia | Proteins | Medical research | Molecular genetics | Medicine, Experimental | Index Medicus
Journal Article
2011, ISBN 0691123179, 368
In the 1980s, a research team led by Parisian scientists identified several unique DNA sequences, or haplotypes, linked to sickle cell anemia in African... 
Clinical & internal medicine | Sickle cell anemia | Social aspects | Senegal | Services for | Genetic disorders | Sociology | Kinship | Anthropology | Genetic aspects | History | Patients | Health aspects
eBook
Clinical Orthopaedics and Related Research[R], ISSN 0009-921X, 11/2017, Volume 475, Issue 11, p. 2692
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s11999-017-5485-4 Byline:... 
Anemia
Journal Article
Clinical Orthopaedics and Related Research, ISSN 0009-921X, 11/2017, Volume 475, Issue 11, p. 2692
Journal Article
1979, ISBN 9780702006982, 249
Book
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