Swee Lay Thein
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Malaysian haematologist
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(Suggest an Edit or Addition)According to Wikipedia, Swee Lay Thein is a Malaysian haematologist and physician-scientist who is Senior Investigator at the National Institutes of Health. She works on the pathophysiology of haemoglobin disorders including sickle cell disease and thalassemia.
Swee Lay Thein's Published Works
Published Works
- Hypervariable ‘minisatellite’ regions in human DNA (1985) (3577)
- Individual-specific ‘fingerprints’ of human DNA (1985) (2041)
- Selection of housekeeping genes for gene expression studies in human reticulocytes using real-time PCR (2006) (1270)
- A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium (2009) (551)
- A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15 (2007) (498)
- New gene functions in megakaryopoiesis and platelet formation (2011) (423)
- Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium (2009) (369)
- Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults (2007) (319)
- DNA "fingerprints" and segregation analysis of multiple markers in human pedigrees. (1986) (298)
- Genetic influences on F cells and other hematologic variables: a twin heritability study. (2000) (290)
- Tailoring iron chelation by iron intake and serum ferritin: the prospective EPIC study of deferasirox in 1744 patients with transfusion-dependent anemias (2010) (283)
- Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency (2002) (275)
- Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms (1986) (256)
- Antithrombin Mutation Database: 2nd (1997) Update (1997) (251)
- Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. (2009) (245)
- Cloning a selected fragment from a human DNA 'fingerprint': isolation of an extremely polymorphic minisatellite. (1986) (239)
- The molecular basis of β-thalassemia. (2013) (214)
- Discovering the genetics underlying foetal haemoglobin production in adults (2009) (209)
- Genetic modifiers of beta-thalassemia. (2005) (194)
- Molecular basis for dominantly inherited inclusion body beta-thalassemia. (1990) (191)
- Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach (1996) (177)
- Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia. (1994) (176)
- cMYB is involved in the regulation of fetal hemoglobin production in adults. (2006) (175)
- HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. (2014) (170)
- American Society of Hematology 2020 guidelines for sickle cell disease: transfusion support. (2020) (158)
- Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach (2011) (150)
- Blood viscosity and its relationship to iron deficiency, symptoms, and exercise capacity in adults with cyanotic congenital heart disease. (2006) (145)
- Survival in adults with sickle cell disease in a high-income setting. (2016) (140)
- Genetic modifiers of the β‐haemoglobinopathies (2008) (139)
- Detection of somatic changes in human cancer DNA by DNA fingerprint analysis. (1987) (138)
- Genetic insights into the clinical diversity of β thalassaemia (2004) (138)
- The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis (1988) (131)
- Antithrombin III Mutation Database: First Update (1993) (131)
- Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. (1993) (129)
- A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function. (2009) (124)
- Molecular diagnosis of haemoglobin disorders. (2004) (123)
- Multiple Loci Are Associated with White Blood Cell Phenotypes (2011) (123)
- Molecular basis of β thalassemia and potential therapeutic targets. (2017) (119)
- Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus. (1986) (118)
- Pulmonary function abnormalities in children with sickle cell disease. (2004) (108)
- Delayed haemolytic transfusion reaction in adults with sickle cell disease: a 5‐year experience (2015) (101)
- Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. (2011) (99)
- The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells. (2009) (98)
- Immunochemical estimation of haemoglobin types in red blood cells by FACS analysis (1994) (98)
- Association between hemolysis and albuminuria in adults with sickle cell anemia (2012) (94)
- Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin. (2002) (93)
- Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers. (1994) (93)
- Pathophysiology of beta thalassemia--a guide to molecular therapies. (2005) (93)
- Melanesians and Polynesians share a unique alpha-thalassemia mutation. (1985) (89)
- DOMINANT β THALASSAEMIA: MOLECULAR BASIS AND PATHOPHYSIOLOGY (1992) (88)
- Sickle cell nephropathy – a practical approach (2011) (86)
- Haplotype mapping of a major quantitative-trait locus for fetal hemoglobin production, on chromosome 6q23. (1998) (85)
- Genetic Variation on Chromosome 6 Influences F Cell Levels in Healthy Individuals of African Descent and HbF Levels in Sickle Cell Patients (2009) (85)
- The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis. (1990) (84)
- Molecular therapies in β‐thalassaemia (2007) (84)
- The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans. (2007) (84)
- Windy weather and low humidity are associated with an increased number of hospital admissions for acute pain and sickle cell disease in an urban environment with a maritime temperate climate (2005) (82)
- Recent Advances in the Treatment of Sickle Cell Disease (2020) (81)
- Genome Wide Association Study of Fetal Hemoglobin in Sickle Cell Anemia in Tanzania (2014) (79)
- Adult patients with Eisenmenger syndrome report flying safely on commercial airlines (2006) (78)
- Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin. (2004) (74)
- Hepatic dysfunction in sickle cell disease: a new system of classification based on global assessment. (2007) (73)
- Ha-ras hypervariable alleles in myelodysplasia (1986) (73)
- How we treat sickle hepatopathy and liver transplantation in adults. (2014) (73)
- Spectral domain optical coherence tomography in patients with sickle cell disease (2015) (71)
- Recombination Breakpoints in the Human β-Globin Gene Cluster (1998) (69)
- Reversible binding of hemoglobin to band 3 constitutes the molecular switch that mediates O2 regulation of erythrocyte properties. (2016) (66)
- Genetic association studies in β-hemoglobinopathies. (2013) (66)
- Blood transfusion usage among adults with sickle cell disease – a single institution experience over ten years (2011) (65)
- Binding patterns of BCL11A in the globin and GATA1 loci and characterization of the BCL11A fetal hemoglobin locus. (2010) (65)
- The linear effects of α‐thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease (2007) (65)
- How I treat renal complications in sickle cell disease. (2014) (64)
- How we treat delayed haemolytic transfusion reactions in patients with sickle cell disease (2015) (64)
- Treatment of thalassaemia major with phenylbutyrate and hydroxyurea (1997) (64)
- Multiple origins of the sickle mutation: evidence from beta S globin gene cluster polymorphisms. (1983) (64)
- GENOME-WIDE ASSOCIATION ANALYSES BASED ON WHOLE-GENOME SEQUENCING IN SARDINIA PROVIDE INSIGHTS INTO REGULATION OF HEMOGLOBIN LEVELS (2015) (61)
- IS IT DOMINANTLY INHERITED β THALASSAEMIA OR JUST A β‐CHAIN VARIANT THAT IS HIGHLY UNSTABLE? (1999) (61)
- The polyadenylation site mutation in the alpha-globin gene cluster. (1988) (60)
- Anemia in the elderly: clinical implications and new therapeutic concepts (2014) (59)
- Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults (2004) (59)
- Quantitation of hepcidin in serum using ultra-high-pressure liquid chromatography and a linear ion trap mass spectrometer. (2010) (58)
- Temporal relationship of asthma to acute chest syndrome in sickle cell disease (2007) (58)
- Sickle Cell Anemia and Its Phenotypes. (2018) (58)
- α‐Haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of β‐thalassaemia (2006) (58)
- Antithrombin: the principal inhibitor of thrombin. (1994) (57)
- Impact of acute chest syndrome on lung function of children with sickle cell disease. (2006) (57)
- Seeking optimal relation between oxygen saturation and hemoglobin concentration in adults with cyanosis from congenital heart disease. (2011) (55)
- Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening (1993) (55)
- Homozygous Antithrombin Deficiency: Report of Two New Cases (99 Leu to Phe) Associated with Arterial and Venous Thrombosis (1994) (55)
- Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA. (1989) (54)
- Antithrombin and its deficiency states. (1992) (54)
- THE MOLECULAR GENETICS OF ANTITHROMBIN DEFICIENCY (1994) (53)
- Moderate reduction of beta-globin gene transcript by a novel mutation in the 5' untranslated region: a study of its interaction with other genotypes in two families. (1996) (53)
- A candidate gene study of F cell levels in sibling pairs using a joint linkage and association analysis. (1999) (49)
- Molecular characterization of a novel 10.3 kb deletion causing β‐thalassaemia with unusually high Hb A2 (1992) (48)
- Recombination within the human embryonic ζ-globin locus: A common ζ-ζ chromosome produced by gene conversion of the ψζ gene (1985) (48)
- The platelet NLRP3 inflammasome is upregulated in sickle cell disease via HMGB1/TLR4 and Bruton tyrosine kinase. (2018) (48)
- Elimination of Transfusions Through Induction of Fetal Hemoglobin Synthesis in Cooley's Anemia a (1998) (48)
- The Molecular Basis of b-Thalassemia (2013) (48)
- Sickle cell disease in the older adult. (2017) (47)
- Extracranial internal carotid arterial disease in children with sickle cell anemia (2010) (46)
- Quantitation of hepcidin in human urine by liquid chromatography-mass spectrometry. (2009) (46)
- Lamin B‐receptor mutations in Pelger–Huët anomaly (2003) (46)
- The emerging role of fetal hemoglobin induction in non-transfusion-dependent thalassemia. (2012) (46)
- A base substitution (T→C) in codon 29 of the α2‐globin gene causes α thalassaemia (1993) (46)
- Airway hyperresponsiveness and acute chest syndrome in children with sickle cell anemia (2007) (46)
- Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function (2008) (45)
- 3 β-Thalassaemia (1998) (45)
- Antithrombin III: A Database of Mutations (1991) (44)
- Beta-thalassemia unlinked to the beta-globin gene in an English family. (1993) (44)
- Antithrombin Vicenza, Ala 384 to Pro (GCA to CCA) mutation, transforming the inhibitor into a substrate (1991) (44)
- A non-deletion hereditary persistence of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex. (1989) (44)
- Genetic determinants of haemolysis in sickle cell anaemia (2013) (44)
- Antithrombin III Budapest: a single amino acid substitution (429Pro to Leu) in a region highly conserved in the serpin family. (1992) (44)
- Quantification of hepcidin using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. (2009) (43)
- The associations between air quality and the number of hospital admissions for acute pain and sickle‐cell disease in an urban environment (2007) (43)
- Erythroblastic Inclusions in Dominantly Inherited β Thalassemias (1997) (42)
- FIRST-TRIMESTER FETAL DIAGNOSIS FOR HAEMOGLOBINOPATHIES: REPORT ON 200 CASES (1986) (42)
- Longitudinal assessment of lung function in children with sickle cell disease (2016) (41)
- Genetic architecture of hemoglobin F control (2009) (41)
- A novel δº mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families (1991) (40)
- MYB - A regulatory factor in hematopoiesis. (2018) (40)
- Disorders of Hemoglobin: The Molecular Basis of β Thalassemia, δβ Thalassemia, and Hereditary Persistence of Fetal Hemoglobin (2009) (39)
- Glucose 6 phosphate dehydrogenase deficiency is not associated with cerebrovascular disease in children with sickle cell anemia. (2009) (38)
- Pulmonary function, CT and echocardiographic abnormalities in sickle cell disease (2014) (38)
- The Molecular Pathology of the Thalassaemias (2008) (38)
- Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. (1994) (37)
- HbA2 levels in normal adults are influenced by two distinct genetic mechanisms (2013) (37)
- A novel amino acid substitution in the reactive site of a congenital variant antithrombin. Antithrombin pescara, ARG393 to pro, caused by a CGT to CCT mutation. (1989) (37)
- Assessment of clonality in gastrointestinal cancer by DNA fingerprinting. (1988) (36)
- FEASIBILITY OF PRENATAL DIAGNOSIS OF β-THALASSAEMIA WITH SYNTHETIC DNA PROBES IN TWO MEDITERRANEAN POPULATIONS (1985) (34)
- Analysis of the human a-globin gene cluster reveals a highly informative genetic locus ( haplotype / genetic linkage / recombinatlon / polymorphism ) (34)
- Hemolytic transfusion reactions in sickle cell disease: underappreciated and potentially fatal (2020) (34)
- Gene regulation and deregulation: a β globin perspective (2000) (34)
- Treatment of sickle cell disease by increasing oxygen affinity of hemoglobin. (2021) (33)
- Prenatal diagnosis of the common haemoglobin disorders. (1985) (33)
- Pain and opioid use after reversal of sickle cell disease following HLA‐matched sibling haematopoietic stem cell transplant (2019) (33)
- The carrier state for sickle cell disease is not completely harmless (2019) (32)
- A randomized phase I/II trial of HQK‐1001, an oral fetal globin gene inducer, in β‐thalassaemia intermedia and HbE/β‐thalassaemia (2013) (32)
- A NEW DNA POLYMORPHISM FOR PRENATAL DIAGNOSIS OF β-THALASSAEMIA IN MEDITERRANEAN POPULATIONS (1984) (32)
- Heterogeneity of the ɛγδβ‐thalassaemias: characterization of three novel English deletions (2005) (32)
- Exhaled carbon monoxide levels in children with sickle cell disease (2005) (32)
- Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia. (2006) (32)
- IDENTIFICATION OF POST-TRANSPLANT CELL POPULATION BY DNA FINGERPRINT ANALYSIS (1986) (31)
- Free fetal DNA in maternal circulation: a potential prognostic marker for chromosomal abnormalities? (2007) (31)
- Associations between environmental factors and hospital admissions for sickle cell disease (2016) (30)
- A novel 506kb deletion causing εγδβ thalassemia. (2012) (30)
- Response of iron overload to deferasirox in rare transfusion-dependent anaemias: equivalent effects on serum ferritin and labile plasma iron for haemolytic or production anaemias (2011) (30)
- Antithrombin III: summary of first database update. (1994) (30)
- g(HbF): a genetic model of fetal hemoglobin in sickle cell disease. (2018) (30)
- A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis. (1990) (29)
- A ten year review of the sickle cell program in Muhimbili National Hospital, Tanzania (2018) (29)
- Identifying Clinical and Research Priorities in Sickle Cell Lung Disease. An Official American Thoracic Society Workshop Report (2019) (29)
- Treating sickle cell anemia (2020) (28)
- The molecular genetics of antithrombin deficiency. (1996) (28)
- Neurokinin-B Transcription in Erythroid Cells (2004) (27)
- Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster. (1986) (27)
- Genetic Basis and Genetic Modifiers of β-Thalassemia and Sickle Cell Disease. (2017) (27)
- Computed tomography and pulmonary function abnormalities in sickle cell disease (2006) (27)
- How I treat the older adult with sickle cell disease. (2018) (27)
- Interaction Between Two Quantitative Trait Loci Affects Fetal Haemoglobin Expression (2005) (27)
- (ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations (1994) (26)
- Genetic Modifiers of Fetal Haemoglobin in Sickle Cell Disease (2018) (26)
- Disorders of Hemoglobin Structure and Synthesis (1998) (26)
- Nontraumatic extradural hematoma in sickle cell anemia: A rare neurological complication not to be missed (2014) (26)
- Circulating mitochondrial DNA is a pro-inflammatory DAMP in sickle cell disease. (2021) (26)
- Intracranial Aneurysms in Sickle-Cell Disease Are Associated With the Hemoglobin SS Genotype But Not With Moyamoya Syndrome (2016) (26)
- Unusually Severe Heterozygous β-Thalassemia: Evidence for an Interacting Gene Affecting Globin Translation (1998) (26)
- Genetic modifiers of B thalassaemia. (2005) (25)
- Serum ferritin and total units transfused for assessing iron overload in adults with sickle cell disease (2012) (25)
- Pulmonary Haemodynamics in Sickle Cell Disease Are Driven Predominantly by a High-Output State Rather Than Elevated Pulmonary Vascular Resistance: A Prospective 3-Dimensional Echocardiography/Doppler Study (2015) (25)
- COVID-19 and sickle cell disease (2020) (25)
- Global Genetic Architecture of an Erythroid Quantitative Trait Locus, HMIP-2 (2014) (25)
- Reduced rate of sickle‐related complications in Brazilian patients carrying HbF‐promoting alleles at the BCL11A and HMIP‐2 loci (2016) (25)
- Pro-inflammatory cytokines associate with NETosis during sickle cell vaso-occlusive crises. (2019) (25)
- Outcome of adults with sickle cell disease admitted to critical care – experience of a single institution in the UK (2010) (24)
- Platelets at the crossroads of thrombosis, inflammation and haemolysis (2018) (24)
- Haemoglobin and the Inherited Disorders of Globin Synthesis (2010) (24)
- Association of sickle avascular necrosis with bone morphogenic protein 6 (2009) (24)
- Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer (2015) (23)
- Dominant beta thalassaemia: molecular basis and pathophysiology. (1992) (23)
- Association of plasma CD40L with acute chest syndrome in sickle cell anemia (2017) (23)
- Novel point mutations leading to type 1 antithrombin deficiency and thrombosis (1991) (23)
- A novel deletion causing (εγδβ)° thalassaemia in a Chilean family (2003) (23)
- Hypervariable 'minisatellite' regions in human DNA. 1985. (1992) (22)
- Post-translational modification as a response to cellular stress induced by hemoglobin oxidation in sickle cell disease (2020) (22)
- Beta thalassaemia intermedia due to co‐inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis (2018) (22)
- Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes (2013) (22)
- Genetic variants at HbF‐modifier loci moderate anemia and leukocytosis in sickle cell disease in Tanzania (2014) (22)
- A polymorphism in the human coagulation factor V gene. (1994) (21)
- Recombination breakpoints in the human beta-globin gene cluster. (1998) (21)
- Thalassaemia intermedia. (1987) (21)
- DIRECT DETECTION OF β°39 THALASSAEMIC MUTATION WITH Mae 1 (1985) (21)
- Circulating DNA: a potential marker of sickle cell crisis (2007) (20)
- Switching from fetal to adult hemoglobin (2018) (20)
- Renal iron load in sickle cell disease is influenced by severity of haemolysis (2012) (20)
- Statistical methodology in the analysis of relationships between DNA polymorphisms and disease: putative association of Ha-ras-I hypervariable alleles and cancer. (1988) (20)
- 6 β-Thalassaemia (1993) (20)
- Antithrombin III Milano 2: a single base substitution in the thrombin binding domain detected with PCR and direct genomic sequencing. (1989) (20)
- Detection of prothrombin gene polymorphism at position 20209 (PT20209C/T): Pilot study in a black population in the United Kingdom (2005) (19)
- Heterocellular hereditary persistence of fetal haemoglobin affects the haematological parameters of β‐thalassaemia trait (2003) (19)
- Genetic factors as determinants of infectious disease transmission in human communities. (1988) (19)
- Next Generation Sequencing Identifies a Novel Rearrangement in the HBB Cluster Permitting to‐the‐Base Characterization (2015) (19)
- The presence of α‐thalassaemia trait blunts the response to hydroxycarbamide in patients with sickle cell disease (2008) (19)
- Next‐generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters (2017) (19)
- Proteomic analysis of plasma from children with sickle cell anemia and silent cerebral infarction (2018) (18)
- The clinical significance of K-Cl cotransport activity in red cells of patients with HbSC disease (2015) (18)
- Use of synthetic oligonucleotides in the characterization of antithrombin III Northwick Park (393 CGT----TGT) and antithrombin III Glasgow (393 CGT----CAT). (1988) (18)
- Hb Sun Prairie: diagnostic pitfalls in thalassemic hemoglobinopathies. (1996) (18)
- Antithrombin Padua. I: Impaired heparin binding caused by an Arg47 to his (CGT to CAT) substitution. (1990) (18)
- Red blood cell alloimmunization in sickle cell disease—prevalence and trends: a single‐center cross‐sectional study from United Kingdom (2013) (18)
- The measurement of urinary hydroxyurea in sickle cell anaemia (2005) (17)
- Direct detection of haemoglobin E with MnlI. (1987) (17)
- A survey of genetic fetal-haemoglobin modifiers in Nigerian patients with sickle cell anaemia (2018) (17)
- An in vitro system for expression analysis of mutations of the β‐globin gene: validation and application to two mutations in the 5′ UTR (1999) (17)
- A common point mutation producing type 1A antithrombin III deficiency: AT129 CGA to TGA (Arg to Stop). (1991) (17)
- Allosteric control of hemoglobin S fiber formation by oxygen and its relation to the pathophysiology of sickle cell disease (2020) (17)
- β-Thalassemia and βA globin gene haplotypes in Mexican mestizos (1997) (17)
- The effects of air quality on haematological and clinical parameters in children with sickle cell anaemia (2009) (16)
- Overnight auto-adjusting continuous airway pressure + standard care compared with standard care alone in the prevention of morbidity in sickle cell disease phase II (POMS2b): study protocol for a randomised controlled trial (2018) (16)
- Is it dominantly inherited beta thalassaemia or just a beta-chain variant that is highly unstable? (1999) (16)
- Abnormal Ventilation–Perfusion Scan Is Associated with Pulmonary Hypertension in Sickle Cell Adults (2018) (16)
- Hydroxyurea therapy lowers circulating DNA levels in sickle cell anemia (2008) (15)
- Two candidate genes for low platelet count identified in an Asian Indian kindred by genome-wide linkage analysis: glycoprotein IX and thrombopoietin (2006) (15)
- Acute human parvovirus B19 infection and nephrotic syndrome in patients with sickle cell disease (2008) (15)
- A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection. (1993) (15)
- Cell‐free DNA levels in pregnancies at risk of sickle‐cell disease and significant ethnic variation (2006) (15)
- Detection of chromosomal 7 loss in myelodysplasia using an extremely polymorphic DNA probe. (1988) (15)
- A comparison of cine CMR imaging at 0.55 T and 1.5 T (2020) (15)
- Response to hydroxyurea among Kuwaiti patients with sickle cell disease and elevated baseline HbF levels (2015) (14)
- Super‐elevated LDH and thrombocytopenia are markers of a severe subtype of vaso‐occlusive crisis in sickle cell disease (2015) (14)
- Genome Wide Association Analysis of a Founder Population Identified TAF3 as a Gene for MCHC in Humans (2013) (14)
- The investigation of resveratrol and analogs as potential inducers of fetal hemoglobin. (2016) (14)
- The spectrum of β thalassaemia in Burma (1992) (14)
- Principles in molecular medicine. (2006) (14)
- β-Thalassaemia prototype of a single gene disorder with multiple phenotypes (2002) (14)
- Genetic Modifiers of Sickle Cell Disease (2011) (14)
- Sickle cell disease in a carrier with pyruvate kinase deficiency (2008) (13)
- Effects of co‐existing α‐thalassaemia in sickle cell disease on hydroxycarbamide therapy and circulating nucleic acids (2012) (13)
- A Phase 1 Dose Escalation Study of the Pyruvate Kinase Activator Mitapivat (AG-348) in Sickle Cell Disease. (2022) (13)
- Changing Pattern of Hospital Admissions of Children With Sickle Cell Disease Over the Last 50 Years (2011) (13)
- Erythroblastic inclusions in dominantly inherited beta thalassemias. (1997) (12)
- Ethnic differences in F cell levels in Jamaica: a potential tool for identifying new genetic loci controlling fetal haemoglobin (2009) (12)
- Analysis ofthehumana-globin genecluster reveals ahighly informative genetic locus (1986) (12)
- Heterogeneity of respiratory disease in children and young adults with sickle cell disease (2017) (12)
- Venous thromboembolism in adults with sickle cell disease: experience of a single centre in the UK (2015) (12)
- DIRECT DETECTION OF HAEMOGLOBIN E WITH SYNTHETIC OLIGONUCLEOTIDES (1986) (12)
- Gene regulation and deregulation: a beta globin perspective. (2000) (12)
- An integrated map of human 6q22.3-q24 including a 3-Mb high-resolution BAC/PAC contig encompassing a QTL for fetal hemoglobin. (2000) (12)
- Prevention of Morbidity in sickle cell disease - qualitative outcomes, pain and quality of life in a randomised cross-over pilot trial of overnight supplementary oxygen and auto-adjusting continuous positive airways pressure (POMS2a): study protocol for a randomised controlled trial (2015) (12)
- Genetic control of erythropoiesis (2017) (12)
- Interim assessment of liver damage in patients with sickle cell disease using new non‐invasive techniques (2017) (11)
- Cardiovascular complications of sickle cell disease. (2020) (11)
- Outcome of children with sickle cell disease admitted to intensive care – a single institution experience (2010) (11)
- HAIR ROOT DNA: A SOURCE OF CONSTITUTIONAL DNA IN LEUKAEMIA (1987) (11)
- Experimental Generation of SNP Haplotype Signatures in Patients with Sickle Cell Anaemia (2010) (11)
- Lung gas transfer in children with sickle cell anaemia (2007) (11)
- Fetal Hemoglobin is Associated with Peripheral Oxygen Saturation in Sickle Cell Disease in Tanzania (2017) (11)
- Airway and alveolar nitric oxide production, lung function, and pulmonary blood flow in sickle cell disease (2016) (11)
- Dietary Iron Restriction Improves Markers of Disease Severity in Murine Sickle Cell Anemia. (2020) (10)
- Voxelotor treatment of a patient with sickle cell disease and very severe anemia (2019) (10)
- A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families. (1991) (10)
- Neutrophils remain detrimentally active in hydroxyurea-treated patients with sickle cell disease (2019) (10)
- The effect of Duffy antigen receptor for chemokines on severity in sickle cell disease (2013) (10)
- ANTITHROMBIN FRANKFURT .1. ARGININE TO CYSTEINE SUBSTITUTION AT THE REACTIVE SITE AND FORMATION OF A VARIANT ANTITHROMBIN-ALBUMIN COVALENT COMPLEX (1991) (10)
- Tissue Iron Distribution Assessed by MRI in Patients with Iron Loading Anemias (2015) (10)
- Haemoglobin Variant Screening in Jamaica: Meeting Student's Request (2016) (10)
- A novel deletion causing (epsilon gamma delta beta) degrees thalassaemia in a Chilean family. (2003) (9)
- Research in Sickle Cell Disease: From Bedside to Bench to Bedside (2021) (9)
- Sickle liver disease—An unusual presentation in a compound heterozygote for HbS and a novel β‐thalassemia mutation (2007) (9)
- Raised Hb F levels in sickle cell disease are caused by a determinant linked to the beta globin gene cluster. (1987) (9)
- Factor V Leiden as an independent risk factor for thrombosis in antithrombin deficiency type II: heparin binding site (1995) (9)
- Direct DNA analysis for diagnosing fetal sickle status in first trimester chorion tissue (1985) (8)
- Leucocyte telomere length in patients with sickle cell disease (2014) (8)
- Erythrocytosis and the Chuvash von Hippel‐Lindau mutation (2003) (8)
- DETECTING FETAL CELLS IN MATERNAL CIRCULATION (1989) (8)
- The Pathophysiology of the Thalassaemias (2008) (8)
- Thalassaemia intermedia: interaction of the triple alpha-globin gene arrangement and heterozygous beta-thalassaemia. (1987) (8)
- First reported duplication of the entire beta globin gene cluster causing an unusual sickle cell trait phenotype (2015) (8)
- Optimal disease management and health monitoring in adults with sickle cell disease. (2019) (8)
- A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia. (1993) (8)
- Antithrombin III Padua 2: a single base substitution in exon 2 detected with PCR and direct genomic sequencing. (1990) (8)
- Serologic survey for certain childhood viral infections in Rangoon in 1971. (1974) (8)
- The Genetic Basis of the Interaction Between Pyrimidine 5′ Nucleotidase I Deficiency and Hemoglobin E (2004) (7)
- Increased prevalence of renal cysts in patients with sickle cell disease (2017) (7)
- The spectrum of beta thalassaemia in Burma. (1992) (7)
- NLRP3 inflammasome and bruton tyrosine kinase inhibition interferes with upregulated platelet aggregation and in vitro thrombus formation in sickle cell mice. (2021) (7)
- Genome wide association study of silent cerebral infarction in sickle cell disease (HbSS and HbSC) (2020) (7)
- Structural Variants with a beta Thalassaemia Phenotype. (2001) (7)
- Safety and Tolerability Of MP4CO: A Dose Escalation Study In Stable Patients With Sickle Cell Disease (2013) (7)
- Prenatal Diagnosis in Combined Antithrombin and Factor V Gene Mutation (1996) (7)
- Interactions of an Anti-Sickling Drug with Hemoglobin in Red Blood Cells from a Patient with Sickle Cell Anemia. (2019) (7)
- Prenatal diagnosis of the major haemoglobin disorders. (1989) (7)
- World Sickle Cell Day 2016 : A time for appraisal (2016) (7)
- Genetic Factors Modifying Sickle Cell Disease Severity (2016) (7)
- Loss of Major DNase I Hypersensitive Sites in Duplicated β‐globin Gene Cluster Incompletely Silences HBB Gene Expression (2016) (7)
- Prediction of consanguinity using human DNA fingerprints. (1988) (7)
- ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta‐thalassaemia unlinked to the beta‐globin locus (2016) (7)
- Genetic Modulation of Sickle Cell Disease (2007) (6)
- Non-deletion haemoglobin H disease in Papua New Guinea. (1987) (6)
- Two Novel Mutations (HBG1: c.-250C>T and HBG2: c.-250C>T) Associated With Hereditary Persistence of Fetal Hemoglobin (2014) (6)
- Polymorphism in human DNA: application to cancer studies (1985) (6)
- Detection and Quantification of Histone H4 Citrullination in Early NETosis With Image Flow Cytometry Version 4 (2020) (6)
- Unusually severe heterozygous beta-thalassemia: evidence for an interacting gene affecting globin translation. (1998) (6)
- Phase 1 Multiple Ascending Dose Study of Safety, Tolerability, and Pharmacokinetics/Pharmacodynamics of Mitapivat (AG-348) in Subjects with Sickle Cell Disease (2020) (5)
- Revisiting anemia in sickle cell disease and finding the balance with therapeutic approaches. (2022) (5)
- Detection of Hb Rothschild HBB: c.[112T>A or 112T>C], Through High Index of Suspicion on Abnormal Pulse Oximetry (2017) (5)
- Heterogeneity of the epsilon gamma delta beta thalassemias: Characterization of 3 novel English deletions (2004) (5)
- Approach to the Diagnosis of -Thalassaemia by DNA Analysis (1987) (5)
- Haemorrhagic manifestations of influenza A infection in children. (1975) (5)
- IDENTIFICATION OF 402 PHENYLALANINE AS A FUNCTIONALLY IMPORTANT RESIDUE IN ANTITHROMBIN (1991) (5)
- Two novel (R(−11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds (1996) (5)
- Therapeutic advances in sickle cell disease in the last decade (2017) (4)
- Abnormalities of the structure and synthesis of hemoglobin (2011) (4)
- A Growing Population of Older Adults with Sickle Cell Disease. (2019) (4)
- Two Consecutive Episodes of Severe Delayed Hemolytic Transfusion Reaction in a Sickle Cell Disease Patient (2020) (4)
- Prevention of Morbidity in Sickle Cell Disease Phase 2 (POMS 2b pediatric): Improvement of Cognition in children with Sickle Cell Disease with Auto-adjusting Continuous Positive Airways Pressure: a single-blind, randomized, controlled phase II trial (2018) (4)
- A Plea for the Newborn Diagnosis of Hb S-Hereditary Persistence of Fetal Hemoglobin (2017) (4)
- DNA diagnosis: PCR on archival tissue. (1993) (4)
- Sickle Cell/β0-Thalassemia Associated With the 1393 bp Deletion Can be Associated With a Severe Phenotype (2011) (4)
- Diagnosis and management of thalassaemia. (2001) (4)
- Mitapivat (AG-348) Demonstrates Safety, Tolerability, and Improvements in Anemia, Hemolysis, Oxygen Affinity, and Hemoglobin S Polymerization Kinetics in Adults with Sickle Cell Disease: A Phase 1 Dose Escalation Study (2021) (4)
- DNA Fingerprinting Analysis (1991) (4)
- The 12.6 kb-deletion in the β-globin gene cluster is the known Thai/Vietnamese (δβ)0-thalassemia commonly found in Southeast Asia (2013) (4)
- A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype. (1991) (4)
- Catheter‐related right atrial thrombus in sickle cell disease (2017) (4)
- Sickle cell disease-Unanswered questions and future directions in therapy. (2018) (4)
- A spontaneous deletion of beta 33/34 Val in exon 2 of the beta globin gene (Hb Korea) produces the phenotype of dominant beta thalassaemia. (1991) (3)
- Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds. (1996) (3)
- HQK-1001 Is Well Tolerated and Augments Hemoglobin F and Hemoglobin Levels In Patients with Beta Thalassemia Intermedia (2010) (3)
- Cell-Free Mitochondrial DNA Is Elevated in Sickle Cell Disease Patients, and Serve As a Potential Proinflammatory DAMP (2018) (3)
- Recombination within the human embryonic xi-globin locus: a common xi-xi chromosome produced by gene conversion of the psi xi gene. (1985) (3)
- Deferasirox Efficacy and Safety for the Treatment of Transfusion-Dependent Iron Overload in Patients with a Range of Rare Anemias. (2008) (3)
- Automated genotyping for accurate assignment of the (AT)xNz(AT)y motif within the β‐globin locus control region‐hypersensitive site 2 (2001) (3)
- The role of cloned genes in the prevention of genetic disease. (1988) (3)
- GlycA is not a useful biomarker of inflammation in sickle cell disease (2018) (3)
- Milestones in the History of Hemoglobin Research (In Memory of Professor Titus H.J. Huisman) (2011) (3)
- Direct detection of beta zero 39 thalassaemic mutation with Mae 1. (1985) (3)
- Hemoglobin S Oxidation Promotes Plasma-Derived Microparticle Membrane Alterations and Toxicity (2016) (3)
- Long Term Tolerability of Sildenafil in Sickle Cell Disease. (2021) (3)
- Sequencing of PCR products. (1998) (3)
- A Comprehensive Next Generation Sequencing Gene Panel Focused on Unexplained Anemia (2015) (2)
- The spectrum of beta-thalassaemia in Burma. (1989) (2)
- Proteomic Studies for the Investigation of γ-Globin Induction by Decitabine in Human Primary Erythroid Progenitor Cultures (2020) (2)
- Mass spectrometric quantification of hepcidin in urine and serum (2007) (2)
- Survival in Sickle Cell Disease: Data from a Well-Resourced, National Health System Setting (2015) (2)
- Disease-related symptoms reported across a broad population of patients with paroxysmal nocturnal haemoglobinuria (PNH) (2008) (2)
- Thalassaemia: Classification, Genetics and Relationship to Other Inherited Disorders of Haemoglobin (2008) (2)
- Long‐term tolerability of phosphodiesterase‐5 inhibitors in pulmonary hypertension of sickle cell disease (2021) (2)
- Genotypes of thalassemia major and intermedia in Italy. (1987) (2)
- Mitochondrial DNA Variation in Individuals with Sickle Cell Disease (2020) (2)
- Beta-thalassemia and beta[A] globin gene haplotypes in Mexican mestizos. (1997) (2)
- A Comprehensive Next Generation Sequencing Gene Panel Focused on Unexplained Anemia (2015) (2)
- The biology of the thalassaemias (2001) (2)
- A Twins Heritability Study on Alpha Hemoglobin Stabilizing Protein (AHSP) Expression Variability (2010) (2)
- Disorders of Hemoglobin, Genetics, Pathophysiology and Clinical Management. (2001) (2)
- Alpha-thalassaemia trait as a cause of unexplained microcytosis in a South African population. (2016) (2)
- Sickle cell anaemia in East Africa: Preliminary results from a cohort study. (2006) (2)
- Phenotypic screening of the ReFRAME drug repurposing library to discover new drugs for treating sickle cell disease (2022) (2)
- Prevention of Morbidity in Sickle Cell Disease ( POMS 2): A Pilot Study of Nocturnal Respiratory Support Shows That Auto-Adjusting Positive Airways Pressure Is Safe and Is Preferred to Oxygen Therapy (2015) (2)
- A phenotypic risk score for predicting mortality in sickle cell disease (2021) (2)
- Quantification of hepcidin (2008) (1)
- A Five Year Experience of Acute Intrahepatic Cholestasis in Patients with Sickle Cell Disease at a Large Teaching Hospital in London (2015) (1)
- Cell Free Fetal and Total DNA Levels in Pregnancies at Risk of Sickle Cell Disease and Significant Ethnic Variation. (2006) (1)
- Hematology – Landmark Papers of the Twentieth Century (2001) (1)
- Functional Characterisation of a MYB-HBS1L Intergenic Region Controlling Fetal Hemoglobin Levels in Adults (2008) (1)
- Extracranial Internal Carotid Arterial Disease in Children with Sickle Cell Disease. (2009) (1)
- Alpha haemoglobin stabilizing protein expression in thalassaemia intermedia (2005) (1)
- Increased Prevalence of Autoimmunity and Connective Tissue Diseases in Sickle Cell Disease (2016) (1)
- Targeting ZNF410 as a potential β-hemoglobinopathy therapy (2021) (1)
- An Imaging Flow Cytometry Method to Measure Citrullination of H4 Histone as a Read-out for Neutrophil Extracellular Traps Formation. (2021) (1)
- Incidence of Heterocellular HPFH among Thais: A Preliminary Report (2002) (1)
- A tool for predicting haemoglobin variants: An aid to DNA diagnostics (2004) (1)
- Genetic modifiers of the beta-haemoglobin disorders (2013) (1)
- Individuals with a genetic shift in haematological indices (2008) (1)
- Genetic variants of PKLR are associated with acute pain in sickle cell disease (2022) (1)
- Evaluation of Hepatic Iron Overload Using a Contemporary 0.55 T MRI System (2021) (1)
- beta haplotypes of three Mexican Mestizo families with Spanish (delta beta)o-thalassemia. (1996) (1)
- Neutrophil extracellular traps are a heterogeneous feature in sickle cell disease (2018) (1)
- Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion (2020) (1)
- Mitapivat increases ATP and decreases oxidative stress and erythrocyte mitochondria retention in a SCD mouse model. (2022) (1)
- The genetics and clinical diversity of thalassaemia. (2005) (1)
- ASH1L: A Novel Beta-Globin Gene Regulator in Humans? (2015) (1)
- Predictors of Length of Stay and Time to Readmission in Adult Patients with Sickle Cell Disease: A Single Institution Experience in the UK (2011) (1)
- Platelet Phenotype Prediction from Whole Genome Sequencing in 621 Sickle Cell Disease Patients (2019) (1)
- Transient aplastic crisis as presentation of a previously unknown G6PD deficiency with iron overload (2011) (1)
- The Detection of Point Mutations in Hemoglobin Defects Using Allele-Specific Oligonucleotide Probes (1991) (1)
- A Common Single Nucleotide Polymorphism in the Chromosome 7q22.3 Region, Which Is Frequently Deleted in Myeloid Malignancies, Is Associated with Mean Platelet Volume and Platelet Function in Healthy Individuals (2008) (1)
- Detection of beta and delta globin gene mutations by PCR and direct DNA sequencing in an individual with normal HbA2 beta thalassemia. (1992) (1)
- Intergenic variants of HBSIL-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing HbF levels in adults. (2006) (1)
- The clinical applications of DNA polymorphisms. (1986) (1)
- The Genetics and Multiple Phenotypes of Beta Thalassaemia (2007) (1)
- Pain and Opioid Use after Reversal of Sickle Cell Disease Following Hematopoietic Stem Cell Transplant (2017) (1)
- Genetic and molecular analysis of mild forms of homozygous beta-thalassemia. (1985) (1)
- Does auto-adjusting positive airway pressure (APAP) aid memory and learning in children with sickle cell disease and sleep disordered-breathing? (2018) (1)
- Cluster analysis and lung function in sickle cell disease (2016) (1)
- Hydroxyurea Reverses Dysfunctional Ubiquitin-Proteasomal System in Sickle CELL Disease and Suppresses Posttranslational Alterations in Hemoglobin and CELL Membranes (2019) (1)
- A Machine Learning Algorithm to Improve Risk Assessment for Patients with Sickle Cell Disease (2019) (1)
- Approach to the diagnosis of beta-thalassaemia by DNA analysis. (1987) (1)
- Gallstones in Sickle Cell Disease: A Single Institution Experience (2014) (1)
- EVIDENCE AGAINST THE ROLE OF CHROMOSOMES 17P AND 5Q IN EARLY COLORECTAL CARCINOGENESIS (1988) (1)
- Renal Iron Load in Sickle Cell Disease Correlates with Hemolysis and Transfusion History, but Not with Hepatic Iron (2011) (0)
- Cfcloud: A Cloud-Based Workflow for Cell-Free DNA Data Analysis (2020) (0)
- Lung Function and High Resolution Computed Tomography in Sickle Cell Disease. (2005) (0)
- The Ava II psi beta polymorphism is linked to the common Mediterranean beta + thalassaemia mutation. (1985) (0)
- The impact of local air quality on the number of hospital admissions with acute pain in sickle cell disease within an urban environment. (2006) (0)
- Distribution and Population Genetics of the Thalassaemias (2008) (0)
- Introduction of routine screening for cerebrovascular abnormailities in sickle cell disease (SCD) using transcranial Doppler ultrasonography (TCD) (2005) (0)
- Pleiotropic effect of mutations in strands 1C/4B of antithrombin (1992) (0)
- A genetic interaction between chromosome 8q and the beta-globin complex influences the switch from fetal to adult hemoglobin. (2003) (0)
- The many facets of sickle cell disease - emerging complications and issues in management (2013) (0)
- Red Blood Cell and Platelet Phenotype Prediction from Whole Genome Sequencing in 621 Sickle Cell Disease Patients: Correlation with Alloimmunization History, Serology and Other Genotyping Methods (2018) (0)
- Faculty Opinions recommendation of Longitudinal effect of disease-modifying therapy on tricuspid regurgitant velocity in children with sickle cell anemia. (2021) (0)
- Molecular genetics and prenatal diagnosis of the thalassaemias. (1997) (0)
- Clinical Vignettes Part I. (2022) (0)
- Subanesthetic ketamine: the way forward for pain management in sickle cell disease patients? (2022) (0)
- A major quantitative trait locus on chromosome 6q23 for HbF levels - An update (2007) (0)
- Sickle Cell Disease in the Aging Patient – Where Do We Go from Here? (2018) (0)
- Safety of liver biopsy in patients with sickle cell related liver disease: A single‐center experience (2022) (0)
- Neutrophil Extracellular Traps Are an Intrinsic Feature in Sickle Cell Disease (2018) (0)
- Super-Elevated LDH and Thombocytopenia Are Markers Of An Unusual Sickle Phenomenon (2013) (0)
- A locus on chromosome 8 influencing the switch from fetal to adult hemoglobin is also acting in a European Caucasian population (2005) (0)
- Haplotype Signatures At HBS1L-MYB In Global Populations (2013) (0)
- GEOGRAPHIC-DISTRIBUTION OF ALPHA-GLOBIN AND BETA-GLOBIN GENE-CLUSTER POLYMORPHISMS (1989) (0)
- sickle cell anemia Genetics of fetal hemoglobin in Tanzanian and British patients with (2011) (0)
- Clinical and laboratory features of homozygous sickle cell patients in Tanzania; Malaria, infections and cerebral blood flow velocity (2005) (0)
- Pulmonary function abnormalities in adults with sickle cell disease - relationships between morphological abnormalities on high resolution CT, pulmonary function tests and haemolysis (2005) (0)
- Molecular Pathology of the Thalassaemia Syndromes (1995) (0)
- Optimal Disease Manage and Health Monitoring in Older Adults (2019) (0)
- Abstract 2447: The Optimal Relationship between Oxygen Saturation and Hemoglobin in Adult Patients with Cyanotic Congenital Heart Disease can be Determined and Correlates with Exercise Capacity. (2006) (0)
- Genetic Determinants of Hemolysis in Sickle Cell Anemia. (2012) (0)
- Long-Term Phosphodiesterase 5 Inhibitor Use Is Safe and Improves Symptoms in Patients with Pre-Capillary Pulmonary Hypertension of Sickle Cell Disease (2020) (0)
- RNA Seq Profiles and Bioinformatics Validation in a Large Sample of Sickle Cell Disease Patients (2020) (0)
- Screening for DNase I hypersensitive sites with Q-PCR in a 6q23 quantitative trait locus influencing fetal haemoglobin levels in adults (2007) (0)
- HEM2019000055C 505..512 (2019) (0)
- Addition of Hydroxyurea to Transfusion Programme to Treat Progressive Cerebral Vasculopathy (2010) (0)
- Sickle Cell Anemia in a Child with Three β-Globin Clusters (β-S/β-S, β-A): Loss of LCR and 3' HS1 in the Duplicated Wild-Type β-Globin Cluster Does Not Fully Abrogate Its Transcript (2015) (0)
- Travelling around the human genome: An in situ investigation: by Bentrand Jordan John Libbey Eurotext, 1993. FF180.00/$35.00 (188 pages) ISBN 2 7420 0030 5 (1994) (0)
- Two Distinct Genetic Mechanisms Modify the Level of HbA(2) in Peripheral Blood (2011) (0)
- The Pyruvate Kinase Activator Mitapivat Improves Red Blood Cell Deformability and Sickling Kinetics in Adult Patients with Sickle Cell Disease (2022) (0)
- The C598T VHL mutation arose in an ancestor common to Asian and Caucasian populations (2004) (0)
- Characterization of a novel (epsilon gamma delta beta)degrees thalassemia deletion. (2002) (0)
- How I Treat (2018) (0)
- Telomere Lengths Correlate With Inflammatory Markers In Sickle Cell Disease (2013) (0)
- AHSP Is a Quantitative Trait Gene That Modifies the Phenotype of β Thalassemia. (2005) (0)
- Pathophysiology of Beta Thalassaemia (2005) (0)
- Stress Erythropoiesis and Genetic Regulation of Fetal Hemoglobin in Inherited Bone Marrow Failure Syndromes (2011) (0)
- Noninvasive Assessment of Liver Fibrosis in Patients with Sickle Cell Disease (2015) (0)
- The role of malaria infection in morbidity and mortality in sickle cell disease in east africa: Preliminary evidence from a cohort study [MIM-JM-1200] (2005) (0)
- Genetic dissection of fetal hemoglobin levels in adults (2005) (0)
- AG-946 Normalizes Glycolysis and Improves Red Cell Indices in a Humanized Sickle Cell Mouse Model (2022) (0)
- Drs Thein & Wainscoat reply (1987) (0)
- Identification of one English and four Asian families with Chuvash-type congenital polycythemia (2003) (0)
- Meiotic recombination in an Irish family with beta-thalassaemia (1993) (0)
- Foetal haemoglobin switching - molecular mechanisms and potential therapeutic targets (2013) (0)
- Switching from fetal to adult hemoglobin (2018) (0)
- Characterisation of Three Unique Head-to-Tail Alpha Globin Cluster Duplications Contributing to Beta Thalassemia Intermedia in 3 Families (2015) (0)
- Optimal diseasemanagement and health monitoring in adults with sickle cell disease (2019) (0)
- Faculty Opinions recommendation of P-selectin deficiency promotes liver senescence in sickle cell disease mice. (2021) (0)
- other genotypes in two families mutation in the 5' untranslated region: a study of its interaction with Moderate reduction of beta-globin gene transcript by a novel (2011) (0)
- Feasibility of Near-Infrared Spectroscopy for Monitoring Hemodynamic Changes in Patients with Sickle Cell Disease Treated with Mitapivat (2022) (0)
- Activating Pyruvate Kinase Improves Red Blood Cell Integrity By Reducing Band3 Tyrosine Phosphorylation (2022) (0)
- Newborn screening for abnormal haemoglobins in Jamaica: Practical issues in an island programme (2022) (0)
- The interaction of UGT1A, HO1 and alpha-thalassemia variants with bilirubin levels and gallstones in sickle cell disease (2006) (0)
- European Chromosome 6 Haplotypes Significantly Augment Fetal Hemoglobin Levels in Brazilian Sickle Cell Anemia Patients: Influence of Four HBS1L-MYB Intergenic Region SNPs (2012) (0)
- Genetic Modifiers of Fetal Haemoglobin in Sickle Cell Disease (2018) (0)
- Hb Questembert is due to a base substitution (T-->C) in codon 131 of the alpha 2-globin gene and has an alpha-thalassemia biosynthetic ratio. (1995) (0)
- Red Blood Cell Membrane Cholesterol May Be a Key Regulator of Sickle Cell Disease Microvascular Complications (2022) (0)
- Two Candidate Genes for Low Platelet Count Identified by Genome-Wide Linkage Analysis: Glycoprotein IX and Thrombopoietin. (2005) (0)
- Iron Status Is Inversely Correlated with Circulating Red Cells in Patients with Sickle Cell Anemia (2021) (0)
- DNA diagnostics in haemoglobinopathies – evolving technological tools (2013) (0)
- Practical Management of Haemoglobinopathies. (2004) (0)
- Peripheral airway function in adults with sickle cell disease (2011) (0)
- Pklr Is a Genetic Modifier of Sickle Cell Disease (2021) (0)
- The multicenter THALAMOSS cellular Biobank for β-Thalassemia (2016) (0)
- blood-2016-01-694331-1 (2016) (0)
- Delayed Hemolytic Transfusion Reactions in Adults with Sickle Cell Disease: Experience of a Single Institution in the UK (2014) (0)
- PRESENTED AT THE INTERNATIONAL CONFERENCE ON HEMOGLOBIN DISORDERS, KUWAIT, February 5-7th, 2011 GENETIC MODIFIERS OF SICKLE CELL DISEASE (2011) (0)
- An integrated physical and transcript map of the region containing a quantitative trait locus for hereditary persistence of fetal hemoglobin on chromosome 6q23. (2001) (0)
- Treat How I treat renal complications in sickle cell disease (2014) (0)
- Heterogeneity of the εγδβ Thalassemias: Characterization of 3 Novel English Deletions. (2004) (0)
- Red Cell Transport Abnormalities As Predictors of the Development of Renal Disease in Children with Sickle Cell Disease (2016) (0)
- Windy weather and acute pain in sickle cell disease (2004) (0)
- Impulse Oscillometry In Adults With Sickle Cell Disease (2010) (0)
- HBB rs334, ABO R s8176703 and Plasmodium Falciparum Positivity at Enrollment Are Independently Associated with Lower Risk for Endemic Burkitt Lymphoma in Uganda, Tanzania, Kenya, and Malawi (2022) (0)
- Individuals with Sickle Cell Disease Have a Higher Burden of Mitochondrial DNA Heteroplasmy (2021) (0)
- Free circulating DNA as a biomarker for severity and prognosis in sickle cell disease (2004) (0)
- PAEDIATRIC LUNG DISEASE Pulmonary function abnormalities in children with sickle cell disease (2017) (0)
- Circulating DNA as a prognostic marker in sickle cell disease (2006) (0)
- Molecular and hematologic characterization of two novel (epsilon gamma delta beta)degrees thalassemia deletions. (2001) (0)
- A novel quantitative trait locus controlling fetal haemoglobin on chromosome 2p15 (2008) (0)
- Diffuse myocardial fibrosis as an SCD biomarker. (2022) (0)
- Optical characterization of vascular health in sickle cell disease (2023) (0)
- Pklr Variants Associated with Acute Pain in Sickle Cell Disease Influence ATP Concentrations in Red Blood Cells (2022) (0)
- Faculty Opinions recommendation of Acute Myeloid Leukemia Case after Gene Therapy for Sickle Cell Disease. (2021) (0)
- A Genetic Predictive Model for HbF in Sickle Cell Disease (2016) (0)
- A Multicentre Study of Environmental Factors on the Severity of Sickle Cell Disease (2014) (0)
- Implementation of the National Newborn Screening Programme for Sickle Cell Disease and Thalassaemia Major in the South East sector (2005) (0)
- Molecular basis fordominantly inherited inclusion body ,f-thal assemia (1990) (0)
- Red Cell Transport Abnormalities As Predictors of the Development of Renal Disease in Children with Sickle Cell Disease (2016) (0)
- Circulating DNA as a biomarker in sickle cell disease (2007) (0)
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