Works matching Thalassemia and genetics
Results: 1314
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
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
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
Exploring the Effectiveness of Mandatory Premarital Screening and Genetic Counselling Programmes for β-Thalassaemia in the Middle East: A Scoping Review.
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- Public Health Genomics, 2015, v. 18, n. 4, p. 193, doi. 10.1159/000430837
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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
Population-Based Genetic Study of β-Thalassemia Mutations in Mardan Division, Khyber Pakhtunkhwa Province, Pakistan.
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- Hemoglobin, 2017, v. 41, n. 2, p. 104, doi. 10.1080/03630269.2017.1330210
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- Article
Association of genetic variations in the mitochondrial D-loop with β-thalassemia.
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- Mitochondrial DNA. Part A, 2016, v. 27, n. 3, p. 1693, doi. 10.3109/19401736.2014.958730
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- Article
Choosing offspring: prenatal genetic testing for thalassaemia and the production of a 'saviour sibling' in China.
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- Culture, Health & Sexuality, 2010, v. 12, n. 2, p. 167, doi. 10.1080/13691050902914110
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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
Genetic polymorphisms of HbE/beta thalassemia related to clinical presentation: implications for clinical diversity.
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- 2020
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- Publication type:
- journal article
Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia.
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- Reproductive Biology & Endocrinology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12958-022-00948-9
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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
Genetic correction of β-thalassemia patient-specific iPS cells and its use in improving hemoglobin production in irradiated SCID mice.
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- Cell Research, 2012, v. 22, n. 4, p. 637, doi. 10.1038/cr.2012.23
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- Article
Genetic determinants of phenotype in beta-thalassemia.
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- Hematology, 2008, v. 13, n. 4, p. 247, doi. 10.1179/102453308X316031
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- Article
GENETIK DEĞIŞTIRICILERIN BETA TALASEMI MAJOR VE INTERMEDIA KLINIĞINE ETKILERI.
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- Biotechnology in Animal Husbandry, 2020, v. 36, n. 2, p. 237
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- Article
Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis.
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- Genes, 2022, v. 13, n. 8, p. 1384, doi. 10.3390/genes13081384
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- Article
GENETIK DEĞIŞTIRICILERIN BETA TALASEMI MAJOR VE INTERMEDIA KLINIĞINE ETKILERI.
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- Journal of Current Pediatrics / Guncel Pediatri, 2020, v. 18, n. 2, p. 237, doi. 10.4274/jcp.2020.0021
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- Article
δβ-Thalassemia and α-Triplication: Is Genetic Retesting Worthwhile in Case of Non-Coherent Phenotype?
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- Hemoglobin, 2024, v. 48, n. 5, p. 349, doi. 10.1080/03630269.2024.2414109
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- Article
Ethical Issues in Genetic Counseling for Thalassemia.
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- 2019
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- Abstract
Genetic Background of β-Thalassemia in Northeast Algeria with Assessment of the Thalassemia Severity Score and Description of a new β<sup>0</sup>-Thalassemia Frameshift Mutation (HBB: c.374dup; p.Pro126Thrfs*15).
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- Hemoglobin, 2019, v. 43, n. 4/5, p. 223, doi. 10.1080/03630269.2019.1675689
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- Article
A comprehensive preimplantation genetic testing approach for SEA-type α-thalassemia by fluorescent gap-polymerase chain reaction combined with haplotype analysis.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1248358
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- Article
Prevalence and genetic analysis of thalassemia in neonates in Wuhan area: a national megacity in central China.
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- 2021
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- journal article
Analysis of rare thalassemia genetic variants based on third-generation sequencing.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14038-8
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- Article
Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China.
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- Clinical Genetics, 2021, v. 99, n. 5, p. 704, doi. 10.1111/cge.13923
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- Article
The First Asian, Single-Center Experience of Blastocyst Preimplantation Genetic Diagnosis with HLA Matching in Thailand for the Prevention of Thalassemia and Subsequent Curative Hematopoietic Stem Cell Transplantation of Twelve Affected Siblings.
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- BioMed Research International, 2020, p. 1, doi. 10.1155/2020/5292090
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- Article
"I didn't take it too seriously because I'd just never heard of it": Experiential knowledge and genetic screening for thalassaemia in the UK.
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- Journal of Genetic Counseling, 2019, v. 28, n. 1, p. 141, doi. 10.1002/jgc4.1042
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- Article
Application of third-generation sequencing technology in the genetic testing of thalassemia.
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- Molecular Cytogenetics (17558166), 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13039-024-00701-4
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- Article
The prevalence and genetic disorders spectrum of thalassemia among breast cancer patients in Jiangxi province, China.
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- Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.1001369
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- Article
Hemoglobin C Disorder in Anemic Patients Referred to the National Center for Thalassemia and Genetic Counseling in Damascus.
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- International Journal of Hematology-Oncology & Stem Cell Research, 2024, v. 18, n. 2, p. 183
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- Article
Genetic Modifying Factors in β-Thalassemia.
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- Clinical Chemistry & Laboratory Medicine, 2000, v. 38, n. 2, p. 123
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- Article
Molecular genetics of beta-thalassaemia syndrome in Pakistan.
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- 2010
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- Journal 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
Genetic correction of concurrent α- and β-thalassemia patient-derived pluripotent stem cells by the CRISPR-Cas9 technology.
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- Stem Cell Research & Therapy, 2022, v. 13, n. 1, p. 1, doi. 10.1186/s13287-022-02768-5
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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
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
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
review Genetic insights into the clinical diversity of β thalassaemia.
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- British Journal of Haematology, 2004, v. 124, n. 3, p. 264, doi. 10.1046/j.1365-2141.2003.04769.x
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- Article
Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.
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- Annals of Hematology, 2024, v. 103, n. 11, p. 4437, doi. 10.1007/s00277-024-06007-0
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- Article
A β-Thalassemia Cell Biobank: Updates, Further Validation in Genetic and Therapeutic Research and Opportunities During (and After) the COVID-19 Pandemic.
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- Journal of Clinical Medicine, 2025, v. 14, n. 1, p. 289, doi. 10.3390/jcm14010289
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- Article
Novel genetic therapeutic approaches for modulating the severity of β-thalassemia (Review).
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- Biomedical Reports, 2020, v. 13, n. 5, p. N.PAG, doi. 10.3892/br.2020.1355
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- Article
بررسي تنوع ژنتيكي زنجيره هاي آلفا و بتا در مزدوجين در شهرستان هاي آبادان و خرمشهر
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- Jundishapur Scientific Medical Journal, 2014, v. 13, n. 5, p. 589
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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
Negative Predictive Value of the Chorionic Villous Sampling (CVS) in Diagnosis of Thalassemia in Genetic Laboratory of Dastgheib Hospital, Shiraz, Iran, 2012.
- Published in:
- 2014
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- Publication type:
- Journal Article
Negative Predictive Value of the Chorionic Villous Sampling (CVS) in Diagnosis of Thalassemia in Genetic Laboratory of Dastgheib Hospital, Shiraz, Iran, 2012.
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- Archives of Iranian Medicine (AIM), 2014, v. 17, n. 7, p. 483
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- Article
Preimplantation genetic diagnosis for β-thalassaemia: the Sardinian experience.
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- Prenatal Diagnosis, 2004, v. 24, n. 12, p. 949, doi. 10.1002/pd.1051
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- Article
Preimplantation genetic diagnostic protocols for alpha- and beta-thalassaemias using multiplex fluorescent PCR.
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- 2001
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- Publication type:
- journal article
Preimplantation genetic diagnostic protocols for α- and β-thalassaemias using multiplex fluorescent PCR.
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- Prenatal Diagnosis, 2001, v. 21, n. 9, p. 753, doi. 10.1002/pd.170
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- Article
AHSP and β-thalassemia: A possible genetic modifier.
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- Hematology, 2005, v. 10, n. 2, p. 157, doi. 10.1080/10245330500067280
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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