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Unsuspected glucose-6-phosphate dehydrogenase deficiency presenting as symptomatic methemoglobinemia with severe hemolysis after fava bean ingestion in a 6-year-old boy.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Prior exposure of endothelial cells to hydroxycarbamide alters the flow dynamics and adhesion of sickle red blood cells.
- Published in:
- Clinical Hemorheology & Microcirculation, 2014, v. 57, n. 1, p. 9, doi. 10.3233/CH-131762
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- Publication type:
- Article
Relationship between acute chest syndrome and the sympatho-vagal balance in adults with hemoglobin SS disease; a case control study.
- Published in:
- Clinical Hemorheology & Microcirculation, 2013, v. 53, n. 3, p. 231, doi. 10.3233/CH-2012-1545
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- Publication type:
- Article
Clinical Biological and Genetic Heterogeneity of the Inborn Errors of Pulmonary Surfactant Metabolism.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2001, v. 39, n. 2, p. 90, doi. 10.1515/cclm.2001.018
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- Publication type:
- Article
Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2430, doi. 10.1002/ajmg.a.35548
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- Publication type:
- Article
Dominique Labie (1920-2016).
- Published in:
- Médecine Sciences, 2016, v. 32, n. 5, p. 523, doi. 10.1051/medsci/20163205023
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- Publication type:
- Article
Chez les drépanocytaires, le pneumocoque se joue de la prévention et s'adapte à la maladie: Conséquences vaccinales.
- Published in:
- Médecine Sciences, 2014, v. 30, n. 11, p. 946, doi. 10.1051/medsci/20143011005
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- Publication type:
- Article
Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
- Published in:
- Kidney International, 2010, v. 77, n. 4, p. 350, doi. 10.1038/ki.2009.440
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- Publication type:
- Article
Phylogenetic Analysis of Escherichia coli Strains Causing Neonatal Meningitis Suggests Horizontal Gene Transfer from a Predominant Pool of Highly Virulent B2 Group Strains.
- Published in:
- Journal of Infectious Diseases, 1998, v. 177, n. 3, p. 642, doi. 10.1086/514217
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- Publication type:
- Article
Mechanisms of the Spread of Penicillin Resistance in Streptococcus pneumoniae Strains Causing Meningitis in Children in France.
- Published in:
- Journal of Infectious Diseases, 1996, v. 174, n. 3, p. 520, doi. 10.1093/infdis/174.3.520
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- Publication type:
- Article
Analysis of DNA Restriction Fragment Length Polymorphism Extends the Evidence for Breast Milk Transmission in Streptococcus agalactiae Late-Onset Neonatal Infection.
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- Journal of Infectious Diseases, 1992, v. 165, n. 3, p. 569
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- Publication type:
- Article
Mother-to-infant vertical transmission and cross-colonization of Streptococcus pyogenes confirmed by DNA restriction fragment length polymorphism analysis.
- Published in:
- 1992
- By:
- Publication type:
- journal article
Cell‐derived microparticles and sickle cell disease chronic vasculopathy in sub‐Saharan Africa: A multinational study.
- Published in:
- British Journal of Haematology, 2021, v. 192, n. 3, p. 634, doi. 10.1111/bjh.17242
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- Publication type:
- Article
New insights into red cell rheology and adhesion in patients with sickle cell anaemia during vaso‐occlusive crises.
- Published in:
- British Journal of Haematology, 2019, v. 185, n. 5, p. 991, doi. 10.1111/bjh.15686
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- Publication type:
- Article
Clinical and haematological risk factors for cerebral macrovasculopathy in a sickle cell disease newborn cohort: a prospective study.
- Published in:
- British Journal of Haematology, 2016, v. 172, n. 6, p. 966, doi. 10.1111/bjh.13916
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- Publication type:
- Article
Impact of glucose-6-phosphate dehydrogenase deficiency on sickle cell anaemia expression in infancy and early childhood: a prospective study.
- Published in:
- British Journal of Haematology, 2013, v. 163, n. 5, p. 646, doi. 10.1111/bjh.12590
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- Publication type:
- Article
Compound heterozygosity for ΔF508 and F508C: A cautionary note on the molecular diagnosis of cystic fibrosis.
- Published in:
- Prenatal Diagnosis, 1994, v. 14, n. 12, p. 1176, doi. 10.1002/pd.1970141216
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- Publication type:
- Article
Genetic Variation among Major Human Geographic Groups Supports a Peculiar Evolutionary Trend in PAX9.
- Published in:
- PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0015656
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- Publication type:
- Article
Hydroxycarbamide modulates components involved in the regulation of adenosine levels in blood cells from sickle-cell anemia patients.
- Published in:
- Annals of Hematology, 2014, v. 93, n. 9, p. 1457, doi. 10.1007/s00277-014-2066-4
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- Publication type:
- Article
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 527, doi. 10.1038/ejhg.2011.233
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- Publication type:
- Article
N219Y, a new frequent mutation among mut° forms of methylmalonic acidemia in Caucasian patients.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 577, doi. 10.1038/sj.ejhg.5200675
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- Publication type:
- Article
Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 679, doi. 10.1038/sj.ejhg.5200360
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- Publication type:
- Article
Proteolytic Derivatives of Thrombin<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1986, v. 485, n. 1, p. 16, doi. 10.1111/j.1749-6632.1986.tb34564.x
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- Publication type:
- Article
Congenitally Abnormal Prothrombin and Thrombin<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1986, v. 485, n. 1, p. 56, doi. 10.1111/j.1749-6632.1986.tb34567.x
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- Publication type:
- Article
Genomic fingerprinting of Yersinia enterocolitica species by degenerate oligonucleotide-primed polymerase chain reaction.
- Published in:
- Electrophoresis, 1994, v. 15, n. 1, p. 562, doi. 10.1002/elps.1150150176
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- Publication type:
- Article
Sickle cell anemia in Guadeloupean children: pattern and prevalence of acute clinical events.
- Published in:
- European Journal of Haematology, 2006, v. 76, n. 3, p. 193, doi. 10.1111/j.1600-0609.2005.00590.x
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- Publication type:
- Article
Acute clinical events in 299 homozygous sickle cell patients living in France.
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- European Journal of Haematology, 2000, v. 65, n. 3, p. 155, doi. 10.1034/j.1600-0609.2000.90210.x
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- Publication type:
- Article
Genetic epidemiology of β-thalassemia in sicily: Do sequences 5′ to the <sup>G</sup>γ gene and 5′ to the β gene interact to enhance HbF expression in β-thalassemia?
- Published in:
- American Journal of Hematology, 1992, v. 40, n. 3, p. 199, doi. 10.1002/ajh.2830400308
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- Publication type:
- Article
Preliminary report on the use of desferrioxamine in the treatment of Plasmodium falciparum malaria.
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- American Journal of Hematology, 1991, v. 37, n. 3, p. 206, doi. 10.1002/ajh.2830370316
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- Publication type:
- Article
Increased protein binding to a −530 mutation of the human β-globin gene associated with decreased β-globin synthesis.
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- American Journal of Hematology, 1991, v. 36, n. 1, p. 42, doi. 10.1002/ajh.2830360109
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- Publication type:
- Article
Men with Sickle Cell Anemia and Priapism Exhibit Increased Hemolytic Rate, Decreased Red Blood Cell Deformability and Increased Red Blood Cell Aggregate Strength.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0154866
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- Publication type:
- Article
New approach to accurate interpretation of sickle cell disease newborn screening by applying multiple of median cutoffs and ratios.
- Published in:
- 2018
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- Publication type:
- journal article
The missing middle of sickle therapeutics: Multi‐agent therapy, targeting risk, using biomarkers.
- Published in:
- American Journal of Hematology, 2018, v. 93, n. 12, p. 1439, doi. 10.1002/ajh.25289
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- Publication type:
- Article
Effects of RANTES and MBL2 gene polymorphisms in sickle cell disease clinical outcomes: Association of the g.In1.1T>C RANTES variant with protection against infections.
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- American Journal of Hematology, 2009, v. 84, n. 6, p. 378, doi. 10.1002/ajh.21411
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- Publication type:
- Article
Sodium phenyl butyrate downregulates endothelin-1 expression in cultured human endothelial cells: Relevance to sickle-cell disease.
- Published in:
- American Journal of Hematology, 2007, v. 82, n. 5, p. 357, doi. 10.1002/ajh.20709
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- Publication type:
- Article
UGT1A1 polymorphism outweighs the modest effect of deletional (−3.7 kb) α‐thalassemia on cholelithogenesis in sickle cell anemia.
- Published in:
- American Journal of Hematology, 2006, v. 81, n. 5, p. 377, doi. 10.1002/ajh.20574
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- Publication type:
- Article
Angiotensinogen gene associated polymorphisms and risk of stroke in sickle cell anemia: Additional data supporting an association.
- Published in:
- American Journal of Hematology, 2004, v. 76, n. 3, p. 310, doi. 10.1002/ajh.20078
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- Publication type:
- Article
Dissection of the association status of two polymorphisms in the β-globin gene cluster with variations in F-cell number in non-anemic individuals.
- Published in:
- American Journal of Hematology, 1997, v. 56, n. 4, p. 239, doi. 10.1002/(SICI)1096-8652(199712)56:4<239::AID-AJH7>3.0.CO;2-Y
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- Publication type:
- Article
Variants of the Mannose-Binding Lectin Gene in the Benin Population: Heterozygosity for the p.G57E Allele May Confer a Selective Advantage.
- Published in:
- Human Biology, 2009, v. 81, n. 5/6, p. 899, doi. 10.3378/027.081.0630
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- Publication type:
- Article
Variants of the Mannose-Binding Lectin Gene in the Benin Population: Heterozygosity for the p.G57E Allele May Confer a Selective Advantage.
- Published in:
- Human Biology, 2007, v. 79, n. 6, p. 687, doi. 10.1353/hub.2008.0012
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- Publication type:
- Article
mtDNA Haplogroup Analysis of Black Brazilian and Sub-Saharan Populations: Implications for the Atlantic Slave Trade.
- Published in:
- Human Biology, 2006, v. 78, n. 1, p. 29, doi. 10.1353/hub.2006.0028
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- Publication type:
- Article
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut° and mut- forms of methylmalonic acidemia: Identification of 29 novel mutations in the MUT gene.
- Published in:
- Human Mutation, 2005, v. 25, n. 2, p. 167, doi. 10.1002/humu.20128
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- Publication type:
- Article
Genotyping May Provide Rapid Identification of Escherichia coli K1 Organisms That Cause Neonatal Meningitis.
- Published in:
- Clinical Infectious Diseases, 1996, v. 22, n. 1, p. 152, doi. 10.1093/clinids/22.1.152
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- Publication type:
- Article
Compound SFTPB 1549C→GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.
- Published in:
- Human Mutation, 1999, v. 14, n. 6, p. 502, doi. 10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C
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- Publication type:
- Article
Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.
- Published in:
- Human Mutation, 1997, v. 10, n. 1, p. 86, doi. 10.1002/(SICI)1098-1004(1997)10:1<86::AID-HUMU15>3.0.CO;2-W
- By:
- Publication type:
- Article
Novel and unusual deletion-insertion thalassemic mutation in exon 1 of the β-globin gene.
- Published in:
- Human Mutation, 1996, v. 8, n. 1, p. 89, doi. 10.1002/(SICI)1098-1004(1996)8:1<89::AID-HUMU16>3.0.CO;2-N
- By:
- Publication type:
- Article
Heterogeneous Ethnic Distribution of the 844ins68 in the Cystathionine β-Synthase Gene.
- Published in:
- Human Heredity, 1998, v. 48, n. 6, p. 338, doi. 10.1159/000022826
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- Publication type:
- Article
WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.
- Published in:
- Kidney International, 2000, v. 57, n. 5, p. 1868, doi. 10.1046/j.1523-1755.2000.00036.x
- By:
- Publication type:
- Article
The erythrocyte effects of haemoglobin O[sub ARAB].
- Published in:
- British Journal of Haematology, 1999, v. 107, n. 3, p. 516, doi. 10.1046/j.1365-2141.1999.01755.x
- By:
- Publication type:
- Article
The relative importance of the X-linked FCP locus and β-globin haplotypes in determining haemoglobin F levels: a study of SS patients homozygous for β<sup>S</sup> haplotypes.
- Published in:
- British Journal of Haematology, 1997, v. 96, n. 4, p. 806, doi. 10.1046/j.1365-2141.1997.d01-2094.x
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- Publication type:
- Article