Works matching DE "GENETICS of thalassemia"
Results: 115
Molecular genetics of beta-thalassaemia syndrome in Pakistan.
- Published in:
- Eastern Mediterranean Health Journal, 2010, v. 16, n. 9, p. 972, doi. 10.26719/2010.16.9.972
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- Publication type:
- Article
Deferasirox-induced serious adverse reaction in a pediatric patient: pharmacokinetic and pharmacogenetic analysis.
- Published in:
- 2016
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- Publication type:
- Letter
Modification of CYP2E1 and CYP3A4 activities in haemoglobin E-beta thalassemia patients.
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- European Journal of Clinical Pharmacology, 2007, v. 63, n. 1, p. 43, doi. 10.1007/s00228-006-0224-x
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- Article
Anthropological approach to the heterogeneity of beta-thalassemia mutations in Northern Africa.
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- Human Biology, 1994, v. 66, n. 3, p. 369
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- Article
NOTICE BOARD.
- Published in:
- 2014
- Publication type:
- Journal Article
The Contribution of Extramedullary Hematopoiesis to Hepatomegaly in Anemic Hydrops Fetalis: A Study in Alpha-Thalassemia Hydrops Fetalis.
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- Pediatric & Developmental Pathology, 2012, v. 15, n. 3, p. 206, doi. 10.2350/11-12-1126-OA.1
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- Article
Development of K562 cell clones expressing β-globin mRNA carrying the β039 thalassaemia mutation for the screening of correctors of stop-codon mutations.
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- Biotechnology & Applied Biochemistry, 2009, v. 54, n. 1, p. 41, doi. 10.1042/BA20080266
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- Article
Geneticization: The Cyprus Paradigm.
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- Journal of Medicine & Philosophy, 1998, v. 23, n. 3, p. 274
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- Article
Use of HbA estimation by CE-HPLC for prenatal diagnosis of β-thalassemia; experience from a tertiary care centre in north India: a brief report.
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- Hematology, 2009, v. 14, n. 2, p. 122, doi. 10.1179/102453309X385269
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- Article
Co-inheritance of compound heterozygous Hb Constant Spring and a single --α<sup>3.7</sup> gene deletion with heterozygous δβ thalassaemia: A diagnostic challenge.
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- Malaysian Journal of Pathology, 2012, v. 34, n. 1, p. 57
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- Article
Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach.
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- Application of Clinical Genetics, 2017, v. 10, p. 27, doi. 10.2147/TACG.S127531
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- Article
Alloimmunization and autoimmunization in transfusion dependent thalassemia major patients: Study on 319 patients.
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- Asian Journal of Transfusion Science, 2014, v. 8, n. 2, p. 84, doi. 10.4103/0973-6247.137438
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- Article
Molecular mechanism of β-thalassaemia caused by 22-bp duplication.
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- Annals of Hematology, 2008, v. 87, n. 8, p. 633, doi. 10.1007/s00277-008-0479-7
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- Publication type:
- Article
Lethal beta-thalassaemia in mice lacking the erythroid CACC-transcription factor EKLF.
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- Nature, 1995, v. 375, n. 6529, p. 318, doi. 10.1038/375318a0
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- Publication type:
- Article
Decrease of α-chains in β-thalassemia.
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- Thalassemia Reports, 2013, v. 3, n. 1s, p. 97, doi. 10.4081/thal.2013.s1.e40
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- Publication type:
- Article
Double-target antisense U7 snRNAs promote efficient skipping of an aberrant exon in three human Beta-thalassemic mutations.
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- Human Molecular Genetics, 1999, v. 8, n. 13, p. 2415, doi. 10.1093/hmg/8.13.2415
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- Publication type:
- Article
Specific interaction between the XNP /ATR-X gene product and the SET domain of the human EZH2 protein.
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- Human Molecular Genetics, 1998, v. 7, n. 4, p. 679, doi. 10.1093/hmg/7.4.679
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- Publication type:
- Article
The main non clinical risk factors of major thalassemia in Fars province.
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- Scientific Journal of Iranian Blood Transfusion Organization, 2011, v. 8, n. 3, p. 1
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- Publication type:
- Article
Clinical and hematological features of β<sup>+</sup>-thalassemia (IVS-1 nt 5, G-C mutation) in Thai patients.
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- European Journal of Haematology, 2001, v. 67, n. 2, p. 100, doi. 10.1034/j.1600-0609.2001.t01-1-00431.x
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- Article
β<sup>0</sup> ‐Thalassemia resulting from a novel mutation: β66/u→stop codon.
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- European Journal of Haematology, 2000, v. 64, n. 1, p. 71
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- Publication type:
- Article
First Observation of Hemoglobin G-Waimanalo and Hemoglobin Fontainebleau Cases in the Turkish Population.
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- Turkish Journal of Hematology, 2016, v. 33, p. 71, doi. 10.4274/tjh.2015.0299
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- Publication type:
- Article
Interaction between hereditary spherocytosis and the beta-thalassemia trait: A case report.
- Published in:
- 2011
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- Publication type:
- Letter
The incidence of alpha-thalassemia in Setif, Algeria.
- Published in:
- 2010
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- Publication type:
- Letter
Hypermethylation of the gene LARP2 for noninvasive prenatal diagnosis of β-thalassemia based on DNA methylation profile.
- Published in:
- Molecular Biology Reports, 2012, v. 39, n. 6, p. 6591, doi. 10.1007/s11033-012-1489-z
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- Publication type:
- Article
Beta-Globin Gene Haplotypes and alpha-Thalassemia Analysis in Babinga Pygmies from...
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- Human Biology, 2000, v. 72, n. 2, p. 379
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- Publication type:
- Article
Identification of the Chinese IVS-II-654 (C...T) beta-Thalassemia mutation in an immigrant...
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- Human Biology, 1999, v. 71, n. 2, p. 295
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- Publication type:
- Article
Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA)).
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1158, doi. 10.1038/ejhg.2014.263
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- Article
Co-inheritance of Hemoglobin D and Β-thalassemia Traits in Three Iranian Families: Clinical Relevance.
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- Archives of Iranian Medicine (AIM), 2011, v. 14, n. 1, p. 61
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- Article
Thalassemia: the long road from the bedside through the laboratory to the community.
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- Nature Medicine, 2010, v. 16, n. 10, p. 1112, doi. 10.1038/nm1010-1112
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- Publication type:
- Article
Cell cycle, proliferation and apoptosis in erythroblasts cultured from patients with β-thalassaemia major.
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- British Journal of Haematology, 2016, v. 175, n. 3, p. 539, doi. 10.1111/bjh.13875
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- Article
Feasibility of DNA diagnosis of haemoglobinopathies on coelocentesis.
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- British Journal of Haematology, 2011, v. 153, n. 2, p. 268, doi. 10.1111/j.1365-2141.2011.08621.x
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- Publication type:
- Article
Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/687635
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- Publication type:
- Article
Incidence of Alpha-Globin Gene Defect in the Lebanese Population: A Pilot Study.
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- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/517679
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- Publication type:
- Article
Thalassemia screening by third-generation sequencing: Pilot study in a Thai population.
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- Obstetric Medicine (1753-495X), 2024, v. 17, n. 2, p. 101, doi. 10.1177/1753495X231207676
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- Article
Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype.
- Published in:
- 1995
- Publication type:
- Abstract
Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and ...-thalassaemia trait:...
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- JAMA: Journal of the American Medical Association, 1994, v. 271, n. 16, p. 1224f
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- Article
β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C → T/-28 A → C.
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- 2009
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- Publication type:
- Case Study
A novel deletion causing (εγδβ)° thalassaemia in a Chilean family.
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- British Journal of Haematology, 2003, v. 123, n. 1, p. 154, doi. 10.1046/j.1365-2141.2003.04564.x
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- Publication type:
- Article
Rapid detection of the major Mediterranean β-thalassaemia mutations by real-time polymerase chain reaction using fluorophore-labelled hybridization probes.
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- British Journal of Haematology, 2002, v. 119, n. 2, p. 554, doi. 10.1046/j.1365-2141.2002.03823.x
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- Publication type:
- Article
Osteoporosis in β-thalassaemia major patients: analysis of the genetic background.
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- British Journal of Haematology, 2000, v. 111, n. 2, p. 461, doi. 10.1046/j.1365-2141.2000.02382.x
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- Publication type:
- Article
α-Thalassaemia as a result of a novel splice donor site mutation of the α<sub>1</sub>-globin gene.
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- British Journal of Haematology, 2000, v. 110, n. 3, p. 694, doi. 10.1046/j.1365-2141.2000.02225.x
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- Publication type:
- Article
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
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- Nature Genetics, 2011, v. 43, n. 4, p. 295, doi. 10.1038/ng.785
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- Publication type:
- Article
Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia.
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- Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 7, p. 797, doi. 10.5858/arpa.2022-0168-OA
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- Publication type:
- Article
Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.
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- Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 3, p. 336, doi. 10.5858/arpa.2022-0299-OA
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- Publication type:
- Article
Genetic risk assessment and haemoglobinopathy counselling: two case studies.
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- British Journal of Midwifery, 2019, v. 27, n. 12, p. 790, doi. 10.12968/bjom.2019.27.12.790
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- Publication type:
- Article
Offering antenatal sickle cell and thalassaemia screening to pregnant women in primary care: a qualitative study of women's experiences and expectations of participation.
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- Health Expectations, 2012, v. 15, n. 2, p. 115, doi. 10.1111/j.1369-7625.2011.00669.x
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- Article
Case Study: Artifactually Low Hemoglobin A[sub lc] in a Patient with High Hemoglobin F.
- Published in:
- 2000
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- Publication type:
- Case Study
Effectiveness of Awareness Programme on Knowledge of Thalassemia among Adolescent Students and their Motivation to Screen the Status as Thalassemic Carrier in a Selected School, Howrah, West Bengal.
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- International Journal of Nursing Education, 2018, v. 10, n. 2, p. 110, doi. 10.5958/0974-9357.2018.00053.3
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- Article
Prevalence of Thalassemia in Reproductive Age Group Females in Central Gujarat- Literature Review.
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- International Journal of Nursing Education, 2017, v. 9, n. 2, p. 71, doi. 10.5958/0974-9357.2017.00039.3
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- Publication type:
- Article
THALASSEMIA IN 'NON--MEDITERRANEAN' FAMILIES.
- Published in:
- Annals of Internal Medicine, 1960, v. 53, n. 3, p. 510, doi. 10.7326/0003-4819-53-3-510
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- Publication type:
- Article