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1. RENAISSANCE OF SICKLE CELL DISEASE RESEARCH IN THE GENOME ERA
by PACE, BETTY
2007, ISBN 9781860946455
Book
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2. Full Text Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia
by Gallagher, Patrick G and Maksimova, Yelena and Lezon-Geyda, Kimberly and Newburger, Peter E and Medeiros, Desiree and Hanson, Robin D and Rothman, Jennifer A and Israels, Sara J and Wall, Donna A and Sidonio, Robert F and Sieff, Colin and Gowans, L Kate and Mittal, Nupur and Rivera-Santiago, Roland and Speicher, David W and Baserga, Susan J and Schulz, Vincent P
The Journal of clinical investigation, ISSN 0021-9738, 04/2019, Volume 130, Issue 7, pp. 2878 - 2887
Hematology | Genetic diseases | Genetics | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Anemia, Hemolytic, Congenital - metabolism | RNA Splice Sites | Humans | Erythrocyte Membrane - metabolism | Erythrocyte Membrane - pathology | Male | Mutation, Missense | Anemia, Hemolytic, Congenital - pathology | Anemia, Hemolytic, Congenital - genetics | Spectrin - biosynthesis | Erythrocyte Membrane - genetics | RNA Splicing - genetics | Female | Spectrin - genetics | Spectrin | Membranes | Genetic disorders | Transcription | Splicing | Laboratories | Anemia | Linkage disequilibrium | Erythrocytes | Iron | Medical diagnosis | Patients | Defects | Hemolytic anemia | Missense mutation | Etiology | Hereditary spherocytosis | Alleles | Genetic engineering | Mutation | Binding sites | Spherocytosis | DNA sequencing | mRNA stability | Index Medicus | Abridged Index Medicus
Journal Article
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3. Full Text Clinical Applications of Hemolytic Markers in the Differential Diagnosis and Management of Hemolytic Anemia
by Barcellini, W and Fattizzo, B
Disease markers, ISSN 0278-0240, 12/2015, Volume 2015, pp. 635670 - 7
Pathology | Life Sciences & Biomedicine | Genetics & Heredity | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Hemolysis | Diagnosis, Differential | Anemia, Hemolytic, Autoimmune - pathology | Humans | Anemia, Hemolytic, Autoimmune - drug therapy | Biomarkers - blood | Anemia, Hemolytic, Autoimmune - blood | Erythrocyte Count | Care and treatment | Hemolytic anemia | Serum | Genetic aspects | Diagnosis | Biological markers | Properties | Identification and classification | Genetic disorders | Haptoglobin | Implants, Artificial | Prosthesis | Glycosylated hemoglobin | Bilirubin | Index Medicus | Review
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4. Full Text A nonsense variant in the Hexokinase 1 gene (HK1) causing severe non‐spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms
by Jamwal, Manu and Aggarwal, Anu and Palodi, Arindam and Sharma, Prashant and Bansal, Deepak and Maitra, Arindam and Das, Reena
British journal of haematology, ISSN 0007-1048, 09/2019, Volume 186, Issue 5, pp. e142 - e145
haemolytic anaemia | inherited anaemias | hexokinase deficiency | molecular diagnosis | Life Sciences & Biomedicine | Hematology | Science & Technology | Genetic research | Anemia | Genes | Analysis | Hexokinase | Genetic analysis | Isoforms | Index Medicus
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5. Full Text Clinical utility of next‐generation sequencing in the diagnosis of hereditary haemolytic anaemias
by Agarwal, Archana M and Nussenzveig, Roberto H and Reading, Noel S and Patel, Jay L and Sangle, Nikhil and Salama, Mohamed E and Prchal, Josef T and Perkins, Sherrie L and Yaish, Hassan M and Christensen, Robert D
British journal of haematology, ISSN 0007-1048, 09/2016, Volume 174, Issue 5, pp. 806 - 814
haemolytic anaemia | hereditary anaemias | hereditary spherocytosis | RBC membrane defect | next generation sequencing | Hereditary anaemias | Haemolytic anaemia | Next generation sequencing | Hereditary spherocytosis | Life Sciences & Biomedicine | Hematology | Science & Technology | High-Throughput Nucleotide Sequencing - economics | Molecular Diagnostic Techniques - methods | Gene Components - genetics | Cytoskeletal Proteins - genetics | Humans | Child, Preschool | Infant | Molecular Diagnostic Techniques - economics | Anemia, Hemolytic, Congenital - genetics | Hyperbilirubinemia, Hereditary - diagnosis | Young Adult | Anemia, Hemolytic, Congenital - diagnosis | Enzymes - genetics | Adolescent | Adult | Mutation | High-Throughput Nucleotide Sequencing - methods | Child | Infant, Newborn | Anemia | Index Medicus
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6. Full Text Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia
by Wang, Zhaoyue and Cao, Lijuan and Su, Yanhua and Wang, Gaifeng and Wang, Ruijuan and Yu, Ziqiang and Bai, Xia and Ruan, Changgeng
American journal of hematology, ISSN 0361-8609, 03/2014, Volume 89, Issue 3, pp. 320 - 324
Life Sciences & Biomedicine | Hematology | Science & Technology | Intestinal Diseases - complications | Splenomegaly - surgery | Vacuoles - ultrastructure | Lipid Metabolism, Inborn Errors - genetics | Prevalence | Lipoproteins - genetics | Cholesterol - blood | Humans | Middle Aged | Male | Phytosterols - pharmacokinetics | Splenectomy | Thrombocytopenia - genetics | ATP-Binding Cassette Transporters - genetics | DNA Mutational Analysis | Diagnostic Errors | Cell Shape | Splenomegaly - etiology | Adult | Female | Erythrocytes, Abnormal - ultrastructure | Phytosterols - adverse effects | Hypercholesterolemia - blood | Lipid Metabolism, Inborn Errors - blood | Lipid Metabolism, Inborn Errors - diagnosis | Intestinal Diseases - genetics | Exons - genetics | Delayed Diagnosis | Xanthomatosis - etiology | Phytosterols - genetics | Anemia, Hemolytic, Congenital - genetics | Intestinal Diseases - diagnosis | Phenotype | Phytosterols - blood | Purpura, Thrombocytopenic, Idiopathic - diagnosis | Intestinal Diseases - blood | Pedigree | Blood Platelets - ultrastructure | Hypercholesterolemia - diagnosis | Hypercholesterolemia - complications | ATP Binding Cassette Transporter, Sub-Family G, Member 8 | Hypercholesterolemia - genetics | Lipid Metabolism, Inborn Errors - complications | Osmotic Fragility | ATP Binding Cassette Transporter, Sub-Family G, Member 5 | Anemia | Analysis | Atherosclerosis | Phytosterols | Index Medicus
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7. Full Text Characterisation of the Escherichia coli strain associated with an outbreak of haemolytic uraemic syndrome in Germany, 2011: a microbiological study
by Bielaszewska, Martina, MD and Mellmann, Alexander, MD and Zhang, Wenlan, MD and Köck, Robin, MD and Fruth, Angelika, PhD and Bauwens, Andreas, PhD and Peters, Georg, MD and Karch, Helge, Prof
The Lancet infectious diseases, ISSN 1473-3099, 2011, Volume 11, Issue 9, pp. 671 - 676
Infectious Disease | Life Sciences & Biomedicine | Infectious Diseases | Science & Technology | Hematologic and hematopoietic diseases | Anemias. Hemoglobinopathies | Diseases of red blood cells | Nephropathies. Renovascular diseases. Renal failure | Renal failure | Nephrology. Urinary tract diseases | Biological and medical sciences | Medical sciences | Platelet diseases and coagulopathies | Genome, Bacterial | Humans | Virulence | Escherichia coli Infections - microbiology | Male | Phylogeny | Multilocus Sequence Typing | Shiga-Toxigenic Escherichia coli - genetics | Sequence Analysis, DNA | Shiga Toxin 2 - genetics | Microbial Sensitivity Tests | Shiga-Toxigenic Escherichia coli - isolation & purification | Escherichia coli Infections - epidemiology | Feces - microbiology | Diarrhea - microbiology | Phenotype | Hemolytic-Uremic Syndrome - microbiology | Disease Outbreaks | Polymerase Chain Reaction | Female | Germany | Shiga-Toxigenic Escherichia coli - pathogenicity | Medicine, Experimental | Medical research | Microbiology | Health aspects | Escherichia coli | Index Medicus | Polymerase chain reaction | Pathogens | Shiga toxin | Epithelial cells | Intestine | Diarrhea | Antimicrobial agents | Feces | Epithelium | Zoonoses
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8. Full Text GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
by Weber, Yvonne G and Storch, Alexander and Wuttke, Thomas V and Brockmann, Knut and Kempfle, Judith and Maljevic, Snezana and Margari, Lucia and Kamm, Christoph and Schneider, Susanne A and Huber, Stephan M and Pekrun, Arnulf and Roebling, Robert and Seebohm, Guiscard and Koka, Saisudha and Lang, Camelia and Kraft, Eduard and Blazevic, Dragica and Salvo-Vargas, Alberto and Fauler, Michael and Mottaghy, Felix M and Münchau, Alexander and Edwards, Mark J and Presicci, Anna and Margari, Francesco and Gasser, Thomas and Lang, Florian and Bhatia, Kailash P and Lehmann-Horn, Frank and Lerche, Holger
The Journal of clinical investigation, ISSN 0021-9738, 06/2008, Volume 118, Issue 6, pp. 2157 - 2168
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Xenopus | Amino Acid Sequence | Humans | Molecular Sequence Data | Male | Anemia, Hemolytic - genetics | Chorea - pathology | Animals | Glucose Transporter Type 1 - genetics | Models, Biological | Erythrocytes - metabolism | Glucose Transporter Type 1 - physiology | Glucose - metabolism | Adult | Female | Cations | Chorea - genetics | Anemia, Hemolytic - etiology | Physical Exertion | Care and treatment | Hemolytic anemia | Gene mutations | Diagnosis | Research | Risk factors | Movement disorders | Index Medicus | Abridged Index Medicus
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9. Full Text Imerslund-Gräsbeck Syndrome presenting with microangiopathic hemolytic anemia in a child
by Gurlek Gokcebay, Dilek and Akpinar Tekgunduz, Sibel and Cavdarli, Busranur
European journal of medical genetics, ISSN 1769-7212, 06/2020, Volume 63, Issue 6, p. 103880
Thrombotic microangiopathy | Children | Amnionless | Imerslund-gräsbeck syndrome | Vitamin B12 deficiency | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Anemia, Megaloblastic - genetics | Membrane Proteins - genetics | Anemia, Hemolytic - pathology | Humans | Infant | Male | Anemia, Hemolytic - genetics | Vitamin B 12 Deficiency - pathology | Proteinuria - genetics | Proteinuria - pathology | Malabsorption Syndromes - genetics | Homozygote | Pedigree | Vitamin B 12 Deficiency - genetics | Female | Anemia, Megaloblastic - pathology | Mutation | Malabsorption Syndromes - pathology | Child
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10. Full Text G6PD deficiency, absence of α-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia
by Bernaudin, Françoise and Verlhac, Suzanne and Chevret, Sylvie and Torres, Martine and Coic, Lena and Arnaud, Cécile and Kamdem, Annie and Hau, Isabelle and Neonato, Maria Grazia and Delacourt, Christophe
Blood, ISSN 0006-4971, 11/2008, Volume 112, Issue 10, pp. 4314 - 4317
Life Sciences & Biomedicine | Hematology | Science & Technology | Hematologic and hematopoietic diseases | Anemias. Hemoglobinopathies | Biological and medical sciences | Medical sciences | Diseases of red blood cells | Anemia, Sickle Cell - physiopathology | Stroke - diagnostic imaging | Humans | Hydro-Lyases - blood | Infant | Male | Cerebrovascular Circulation - genetics | Stroke - physiopathology | Stroke - genetics | Ultrasonography, Doppler, Transcranial | Globins - analysis | Female | alpha-Thalassemia - physiopathology | Hydro-Lyases - genetics | alpha-Thalassemia - genetics | Anemia, Sickle Cell - diagnostic imaging | Hemolysis - genetics | Glucosephosphate Dehydrogenase Deficiency - genetics | Glucosephosphate Dehydrogenase Deficiency - blood | Risk Factors | alpha-Thalassemia - diagnostic imaging | Glucosephosphate Dehydrogenase Deficiency - physiopathology | Blood Flow Velocity - genetics | Stroke - blood | Globins - genetics | alpha-Thalassemia - blood | Anemia, Sickle Cell - blood | Anemia, Sickle Cell - genetics | Cohort Studies | Glucosephosphate Dehydrogenase Deficiency - diagnostic imaging | Index Medicus | Abridged Index Medicus
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11. Full Text The genetics of atypical hemolytic uremic syndrome
by Feitz, Wouter J. C and van de Kar, Nicole C. A. J and Orth-Höller, Dorothea and van den Heuvel, Lambert P. J. W and Licht, Christoph
Medizinische Genetik, ISSN 0936-5931, 12/2018, Volume 30, Issue 4, pp. 400 - 409
Human Genetics | Thrombotic microangiopathy | Gene Therapy | Alternativer Komplementweg | Gynecology | Oncology | Microangiopathic hemolytic anemia | Medicine/Public Health, general | Alternative complement pathway | Endothelium | Komplementsystem | Medicine & Public Health | Mikroangiopathische haemolytische Anaemie | Complement system | Endothel | Thrombotische Mikroangiopathie | Reproductive Medicine | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Thrombocytopenia | Complement factor H | Hemolytic anemia | Hemolytic uremic syndrome | Pathogenesis | Complement component C3 | Mutation | Alternative pathway | Membrane proteins | Erbliche Nierenerkrankungen | Schwerpunktthema
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