Works matching DE "GENETICS of thalassemia"
Results: 115
Molecular genetics of beta-thalassaemia syndrome in Pakistan.
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- Eastern Mediterranean Health Journal, 2010, v. 16, n. 9, p. 972, doi. 10.26719/2010.16.9.972
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- 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
Determination of mitogen-triggered proliferation responses of thalassemia major patients treated with bone marrow transplantation.
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- Turkish Journal of Immunology, 2016, v. 4, p. 74
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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
Molecular Understanding of Non-Transfusion-Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia in Northeast Thailand.
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- Acta Haematologica, 2016, v. 136, n. 4, p. 233, doi. 10.1159/000449120
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- Article
Nondeletional α-Thalassemia (α2- IVS-1-116, A>G HBA2): An α2 Gene Point Mutation Detected in an African-American Female for the First Time.
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- Acta Haematologica, 2014, v. 132, n. 1, p. 22, doi. 10.1159/000355426
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- Article
Genomic safe harbors permit high β-globin transgene expression in thalassemia induced pluripotent stem cells.
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- Nature Biotechnology, 2011, v. 29, n. 1, p. 73, doi. 10.1038/nbt.1717
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- Article
β‐thalassemia intermedia mimicking β‐thalassemia trait: The importance of family studies and HBB genotyping in phenotypically ambiguous cases.
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- 2023
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- Letter to the Editor
The role of molecular diagnostic testing for hemoglobinopathies and thalassemias.
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- International Journal of Laboratory Hematology, 2023, v. 45, p. 71, doi. 10.1111/ijlh.14089
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- Article
Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi.
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- International Journal of Laboratory Hematology, 2023, v. 45, n. 1, p. 104, doi. 10.1111/ijlh.13965
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- Article
Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening.
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- International Journal of Laboratory Hematology, 2022, v. 44, n. 1, p. 223, doi. 10.1111/ijlh.13687
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- Article
Development of a genomic DNA reference material panel for thalassemia genetic testing.
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- International Journal of Laboratory Hematology, 2020, v. 42, n. 5, p. 510, doi. 10.1111/ijlh.13213
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- Article
Erythrocyte indices in a large cohort of β‐thalassemia carrier: Implication for population screening in an area with high prevalence and heterogeneity of thalassemia.
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- International Journal of Laboratory Hematology, 2019, v. 41, n. 4, p. 513, doi. 10.1111/ijlh.13035
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- Article
Complex interactions between thalassemia defective alleles compromise screening and cause severe anemia in a Chinese family.
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- International Journal of Laboratory Hematology, 2018, v. 40, n. 3, p. e55, doi. 10.1111/ijlh.12811
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- Article
A novel α<sup>0</sup>-thalassemia deletion in a Brazilian child with Hb H disease [--<sup>(Braz)</sup>].
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- International Journal of Laboratory Hematology, 2017, v. 39, n. 4, p. e106, doi. 10.1111/ijlh.12646
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- Article
Molecular understanding of Indian untransfused thalassemia intermedia.
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- International Journal of Laboratory Hematology, 2015, v. 37, n. 6, p. 791, doi. 10.1111/ijlh.12407
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- Article
First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations.
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- International Journal of Laboratory Hematology, 2015, v. 37, n. 2, p. 238, doi. 10.1111/ijlh.12272
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- Article
New updating into hemoglobinopathies.
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- International Journal of Laboratory Hematology, 2012, v. 34, n. 6, p. 559, doi. 10.1111/j.1751-553X.2012.01446.x
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- Article
Quantification of hemoglobin Constant Spring in heterozygote and homozygote by a capillary electrophoresis method.
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- International Journal of Laboratory Hematology, 2012, v. 34, n. 2, p. 143, doi. 10.1111/j.1751-553X.2011.01371.x
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- Article
Decreased blood catalase activity is not related to specific beta-thalassemia mutations in Hungary.
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- International Journal of Laboratory Hematology, 2012, v. 34, n. 2, p. 172, doi. 10.1111/j.1751-553X.2011.01377.x
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- Article
Hemoglobin Lepore Hollandia in India.
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- International Journal of Laboratory Hematology, 2012, v. 34, n. 2, p. 148, doi. 10.1111/j.1751-553X.2011.01372.x
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- Article
Nonsense mutation of β-globin gene at codon 82 (AAG→TAG) or HBB:C247 A→T with polymorphism: cause of thalassemia intermedia?
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- International Journal of Laboratory Hematology, 2011, v. 33, n. 2, p. e3, doi. 10.1111/j.1751-553X.2010.01273.x
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- Article
Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.
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- International Journal of Laboratory Hematology, 2011, v. 33, n. 1, p. 85, doi. 10.1111/j.1751-553X.2010.01255.x
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- Article
Compound heterozygosity for a rare small deletion and a common point mutation in the beta-globin gene: report of two Chinese families.
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- International Journal of Laboratory Hematology, 2011, v. 33, n. 1, p. 79, doi. 10.1111/j.1751-553X.2010.01253.x
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- Article
A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major.
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- 2010
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- Letter
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
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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- 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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- 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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- 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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- Article
A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease.
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- 2017
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- Publication type:
- journal 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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- 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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- 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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- Article
High Prevalence of Alpha- and Beta-Thalassemia in the Kadazandusuns in East Malaysia: Challenges in Providing Effective Health Care for an Indigenous Group.
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- Journal of Biomedicine & Biotechnology, 2010, p. 1, doi. 10.1155/2010/706872
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- Article
β-Thalassaemia and its Co-existence with Haemoglobin E and Haemoglobin S in Upper Assam Region of North Eastern India: A Hospital Based Study.
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- Journal of Clinical & Diagnostic Research, 2016, v. 10, n. 4, p. 1, doi. 10.7860/JCDR/2016/16265.7675
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- Article
THALASSEMIA IN 'NON--MEDITERRANEAN' FAMILIES.
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- Annals of Internal Medicine, 1960, v. 53, n. 3, p. 510, doi. 10.7326/0003-4819-53-3-510
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- Article
A Rare β°-Thalassemia Frameshift Mutation in a Turkish Individual: (+T) at Codon 9/10.
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- Erciyes Medical Journal / Erciyes Tip Dergisi, 2016, v. 38, n. 1, p. 46, doi. 10.5152/etd.2016.0003
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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
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
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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- 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
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
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
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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- Article
Compound heterozygosity for hemoglobin E-Saskatoon and β-thalassemia.
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- Journal of Obstetrics & Gynaecology Research, 2010, v. 36, n. 5, p. 1148, doi. 10.1111/j.1447-0756.2010.01343.x
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- Article