Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: experiences from India

scientific article published on October 2011

Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: experiences from India is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

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P932PMC publication ID3237256
P698PubMed publication ID22089620

P2093author name stringA C Gorakshakar
A H Nadkarni
R B Colah
P2860cites workThe inherited diseases of hemoglobin are an emerging global health burdenQ27686848
Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmesQ30494825
Noninvasive prenatal diagnosis of beta-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment.Q33305250
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasmaQ33360224
Size fractionation of cell-free DNA in maternal plasma improves the detection of a paternally inherited beta-thalassemia point mutation by MALDI-TOF mass spectrometryQ33464117
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The clinical significance of the spectrum of interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north IndiansQ34694590
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Prenatal diagnosis using fetal cells isolated from maternal peripheral blood: a reviewQ40919998
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Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemiaQ44488525
Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian populationQ45755721
Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian populationQ45883421
Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal bloodQ46167117
High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counselingQ47271482
Hemoglobin E distribution in ten endogamous population groups of Assam, IndiaQ47387511
Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasmaQ47391690
Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphismsQ47423342
A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfacesQ47673892
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Prevalence of beta-thalassaemia in subcastes of Indian Sindhis: Results from a two-phase survey.Q50710014
Epidemiology of beta-thalassaemia in Western India: mapping the frequencies and mutations in sub-regions of Maharashtra and Gujarat.Q51142407
Use of HbA estimation by CE-HPLC for prenatal diagnosis of beta-thalassemia; experience from a tertiary care centre in north India: a brief report.Q51759871
Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of beta-thalassemia: a feasibility study in southern Chinese.Q54438535
Evaluation of the use of monoclonal antibodies and nested PCR for noninvasive prenatal diagnosis of hemoglobinopathies in India.Q54524511
Establishment of prenatal diagnosis for beta-thalassaemia: a step towards its control in a developing country.Q54649070
Prenatal diagnosis in beta-thalassemia: an Indian experience.Q54760882
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High prevalence of haemoglobin E in three populations of the Malda district, West Bengal, IndiaQ67920436
Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UKQ68158317
Sickle cell-beta+ thalassaemia in Orissa State, IndiaQ70117770
Study of hematological and genetical characteristics of Cutchhi Bhanushali communityQ70396827
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Prenatal diagnosis of beta-thalassaemia mutations using the reverse dot blot techniqueQ71655166
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Will ultrasound-screening and ultrasound-guided procedures be replaced by non-invasive techniques for the diagnosis of fetal chromosome anomalies?Q73379998
Prenatal diagnosis of beta-thalassaemia and other haemoglobinopathies in IndiaQ73553694
Rapid mid-trimester prenatal diagnosis of beta-thalassaemia and other haemoglobinopathies using a non-radioactive anion exchange HPLC technique--an Indian experienceQ73616989
Variable clinical severity of Hb E beta-thalassemia among IndiansQ73706799
Prenatal diagnosis of beta-thalassemia among Indians using denaturing gradient gel electrophoresisQ73758701
Prenatal diagnosis of beta-thalassaemia using fetal erythroblasts enriched from maternal blood by a novel gradientQ73822078
Prenatal diagnosis of beta-thalassaemia: experience in a developing countryQ74246533
Usefulness of automated chromatography for rapid fetal blood analysis for second trimester prenatal diagnosis of beta-thalassemiaQ77667756
Two-colour immunocytochemical staining of gamma (gamma) and epsilon (epsilon) type haemoglobin in fetal red cellsQ77687939
Noninvasive prenatal diagnostic assay for the detection of beta-thalassemiaQ79362858
Anemia and hemoglobinopathies in tribal population of Eastern and North-eastern IndiaQ80559469
Non-invasive first-trimester detection of paternal beta-globin gene mutations and polymorphisms as predictors of thalassemia risk at chorionic villous samplingQ80916226
Carrier screening for beta-thalassemia during pregnancy in India: a 7-year evaluationQ81158888
Profile of beta-thalassemia in eastern India and its prenatal diagnosisQ81188296
Application of maternal plasma DNA analysis for noninvasive prenatal diagnosis of Hb E-beta-thalassemiaQ81507580
Hemoglobin E-beta thalassemia: factors affecting phenotypeQ81720740
Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphismsQ82218765
Known and new delta globin gene mutations and their diagnostic significanceQ82360771
Noninvasive prenatal diagnosis in 2020Q84463573
P275copyright licenseCreative Commons Attribution-NonCommercial-ShareAlike 3.0 UnportedQ15643954
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P921main subjectIndiaQ668
sickle-cell diseaseQ185034
genetic testingQ285223
beta thalassemiaQ3616632
preventive health servicesQ65732032
biomedical investigative techniqueQ66648976
P5008on focus list of Wikimedia projectScienceSourceQ55439927
P304page(s)552-560
P577publication date2011-10-01
P1433published inIndian Journal of Medical ResearchQ6020786
P1476titleInvasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: experiences from India
P478volume134

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cites work (P2860)
Q85227572Are Indian parents of children with Down syndrome engaged in the blame game?
Q41176950Clinico-Haematological Profile of Hereditary Haemolytic Anaemias in a Tertiary Health Care Hospital in South India
Q41925898Generic Direct Acting Antivirals in Treatment of Chronic Hepatitis C Infection in Patients of Thalassemia Major
Q33704030Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach
Q56529790Prenatal Diagnosis of HbE-β-Thalassemia: Experience of a Center in Western India
Q35220812Prenatal diagnosis of sickle cell disease by the technique of PCR.
Q88646424Quality of Life (QoL) and the Factors Affecting it in Transfusion-dependent Thalassemic Children
Q87307011Rapid Flow cytometric prenatal diagnosis of primary immunodeficiency (PID) disorders
Q91908433Sickle Cell Disease and Pregnancy
Q35877834Sickle cell disease in tribal populations in India.

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