ArticleJournal of assisted reproduction and genetics2011
Preimplantation genetic diagnosis for α-and β-double thalassemia.
Article in Journal of assisted reproduction and genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 28 citations in OpenAlex.
- Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing.Genes · 2025Review
- Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing.BMC medical genomics · 2024Article
- Evaluating the application value of NGS-based PGT-A by screening cryopreserved MDA products of embryos from PGT-M cycles with known transfer outcomes.Journal of assisted reproduction and genetics · 2022Article
- Long-read sequencing on the SMRT platform enables efficient haplotype linkage analysis in preimplantation genetic testing for β-thalassemia.Journal of assisted reproduction and genetics · 2022Article
- Comparison of chromosomal status in reserved multiple displacement amplification products of embryos that resulted in miscarriages or live births: a blinded, nonselection case-control study.BMC medical genomics · 2022Article
- Eleven healthy live births: a result of simultaneous preimplantation genetic testing of α- and β-double thalassemia and aneuploidy screening.Journal of assisted reproduction and genetics · 2020Article
- Preimplantation Genetic Testing for Monogenic Disease of Spinal Muscular Atrophy by Multiple Displacement Amplification: 11 unaffected livebirths.International journal of medical sciences · 2019Article
- Genetic diagnosis of β-thalassemia preimplantation using short tandem repeats in human cryopreserved blastocysts.International journal of clinical and experimental pathology · 2017Article
- Simple and Easy to Perform Preimplantation Genetic Diagnosis for β-thalassemia Major Using Combination of Conventional and Fluorescent Polymerase Chain Reaction.Advanced biomedical research · 2017Article
- Medium-based noninvasive preimplantation genetic diagnosis for human α-thalassemias-SEA.Medicine · 2015Article
- Article
- The prevalence of chromosomal deletions relating to developmental delay and/or intellectual disability in human euploid blastocysts.PloS one · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo evaluate the use of multiple displacement amplification (MDA) for preimplantation genetic diagnosis (PGD) of α- and β-double thalassemia.
methodWhole genome of a single cell was directly amplified using MDA and its products were used as templates in fluorescent gap polymerase chain reaction (PCR) analysis of α-thalassemia and in PCR-reverse dot blot analysis, singleplex fluorescent PCR of β-28 and CD17 mutation and HumTH01 for β-thalassemia.
results1) MDA from single cell could produce enough DNA templates for the detection of both α and β-thalassemia; 2) The established MDA-PGD protocol for α- and β-double thalassemia was successfully applied in PGD of six embryos, among which, three were transferred, but no pregnancy ensued.
conclusionsThe use of MDA as a universal step allows for the simultaneous diagnosis of two or more hereditary defects.
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Registered trials
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