Search Results - "Maddali, Madhavi"
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Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing
Published in Journal of clinical immunology (01-02-2021)“…Primary immunodeficiency diseases (PIDs) are a group of clinically and genetically heterogeneous disorders showing ethnic and geographic diversities…”
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Immunophenotype, Karyotype and Molecular Findings in a Case of ICF Syndrome
Published in Indian journal of hematology & blood transfusion (01-07-2023)Get full text
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Establishment and characterization of CSCRi006-A: an induced pluripotent stem cell line generated from a patient with Diamond-Blackfan Anemia (DBA) carrying ribosomal protein S19 (RPS19) mutation
Published in Human cell : official journal of Human Cell Research Society (01-11-2023)“…Diamond-Blackfan anemia (DBA) is a congenital hypoplastic anemia characterized by ineffective erythropoiesis. DBA is majorly caused by mutations in the…”
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Haploidentical Natural Killer Cell Therapy as an Adjunct to Stem Cell Transplantation for Treatment of Refractory Acute Myeloid Leukemia
Published in Cell transplantation (01-01-2023)“…Refractory acute myeloid leukemia (AML), defined as failure of two cycles of induction therapy at diagnosis or of one cycle at relapse, represents a subgroup…”
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JAK2 exon 12 mutations in cases with JAK2V617F-negative polycythemia vera and primary myelofibrosis
Published in Annals of hematology (01-05-2020)“…Molecular detection of JAK2 mutation (V617F or exon 12) is included as a major diagnostic criterion for polycythemia vera (PV) by the WHO 2016 guidelines. JAK2…”
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Atypical Morphological Presentation of Neoplastic Plasma Cells: A Series of Five Cases
Published in Journal of clinical and diagnostic research (2024)“…The diagnosis of Multiple Myeloma (MM) is made by demonstration clonal plasma cells in Bone Marrow (BM) aspiration/biopsy, in addition to assessing serum…”
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Molecular Characterization of G6PD Deficiency: Report of Three Novel G6PD Variants
Published in Indian journal of hematology & blood transfusion (01-04-2020)“…G6PD deficiency is a monogenic, X-linked genetic defect with a worldwide prevalence of around 400 million people and an overall prevalence of 8.5% in India…”
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Generation of an integration-free iPSC line (CSCRi005-A) from erythroid progenitor cells of a healthy Indian male individual
Published in Stem cell research (01-05-2018)“…Reprogramming of somatic cells with higher genome integrity, and use of non-integrating gene delivery methods and xeno-free cell culture conditions aid in the…”
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Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing
Published in Journal of clinical immunology (01-02-2021)Get full text
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Applications of Next Generation Sequencing in Haematological Disorders—Indian Status: Updates from ISHBT 2018
Published in Indian journal of hematology & blood transfusion (01-01-2019)“…Research in India based on next generation sequencing (NGS) has been plentiful over the past few years. Significant progress in research both in benign and…”
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Molecular characterization of triple-negative myeloproliferative neoplasms by next-generation sequencing
Published in Annals of hematology (01-09-2022)“…The role of next-generation sequencing (NGS) in identifying mutations in the driver, epigenetic regulator, RNA splicing, and signaling pathway genes in…”
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Haploidentical Natural Killer Cell Therapy As an Adjunct to Stem Cell Transplantation for Refractory Acute Myeloid Leukemia
Published in Blood (23-11-2021)“…Refractory acute myeloid leukemia (AML), defined as failure of 2 cycles of induction therapy at diagnosis or of 1 cycle at relapse, represents a subgroup with…”
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Generation of an Immortalized Erythroid Progenitor Cell Line Directly from Peripheral Blood Mononuclear Cells without Using Mobilized CD34+ Cells
Published in Blood (29-11-2018)“…A reliable stable human erythroid progenitor cell line that can differentiate to the later stages of erythropoiesis is an important cellular model for studying…”
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A Review on the Role of Molecular Genetics in the Diagnostic Workup of BCR::ABL1-Negative Myeloproliferative Neoplasms
Published in Indian journal of medical and paediatric oncology (01-12-2023)“…Abstract The diagnostic evaluation of myeloproliferative neoplasms (MPNs) depends on the close correlation between clinical features, morphologic assessment of…”
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Clinical significance of end of induction measurable residual disease monitoring in B‐cell acute lymphoblastic leukemia: A single center experience
Published in Cytometry. Part B, Clinical cytometry (01-11-2023)“…The assessment of measurable residual disease (MRD) has emerged as a powerful prognostic tool for both pediatric and adult acute lymphoblastic leukemia (ALL)…”
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Haploidentical Natural Killer Cell Therapy As an Adjunct to Stem Cell Transplantation for Refractory Acute Myeloid Leukemia
Published in Transplantation and cellular therapy (01-03-2022)Get full text
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Mutation profile in BCR-ABL1-negative myeloproliferative neoplasms: A single-center experience from India
Published in Hematology/oncology and stem cell therapy (19-03-2021)“…Recurrent somatic mutations in the JAK2, calreticulin (CALR), and the MPL genes are described as drivers of BCR-ABL1-negative myeloproliferative neoplasms…”
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