Search Results - "Korgaonkar, Seema"
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Quantitative estimation of antidesmoglein autoantibodies by ELISA in pemphigus patients and its correlation with disease activity
Published in Indian journal of dermatology (01-01-2021)Get full text
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Partial trisomy 9 (9pter->9q22.1) and partial monosomy 14 (14pter>14q11.2) due to paternal translocation t(9;14)(q22.1;q11.2) in a case of Dysmorphic features
Published in Intractable & Rare Diseases Research (01-02-2019)“…Trisomy 9 including mosaic and partial trisomy is less frequently seen chromosomal abnormality in live born children. The pure or partial trisomy 9 frequently…”
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Chromosomal aberrations in primary amenorrhea: A retrospective study
Published in Journal of human reproductive sciences (01-04-2019)“…Objectives: The aim of this study was to estimate the frequency of chromosomal abnormalities and establish the association with clinical of factors such as…”
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A first case of primary amenorrhea with i(X)(qter---q10::---qter), rob(13;14)(q10;q10), inv(9)(p13q33) karyotype
Published in Journal of human reproductive sciences (01-01-2011)“…Primary amenorrhea (PA) refers to the absence of menarche by the age of 16-18 years although secondary sexual characters are developed. PA occurs in 1-3% of…”
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Down-regulation of miR-199b associated with imatinib drug resistance in 9q34.1 deleted BCR/ABL positive CML patients
Published in Gene (01-06-2014)“…Chronic myeloid leukemia (CML) occurs due to t(9,22) (q34;q11) and molecularly BCR/ABL gene fusion. About 15–18% Philadelphia positive CML patients have gene…”
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Frequency and pattern of chromosomal abnormalities in acute myeloid leukemia from Western India: A retrospective study
Published in Journal of cancer research and therapeutics (01-01-2023)“…Chromosomal abnormalities play an important role in diagnosis and prognosis of hematological diseases. The aim of the present study was to study the pattern…”
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Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome
Published in Annals of hematology (01-01-2016)“…Myelodysplastic syndromes (MDSs) are heterogeneous hematopoietic disease characterized by ineffective haematopoiesis that frequently transforms into acute…”
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A Cross-Sectional Study to Correlate Disease Severity in Bullous Pemphigoid Patients with Serum Levels of Autoantibodies Against BP180 and BP230
Published in Indian Dermatology Online Journal (01-09-2021)“…Enzyme-linked immunosorbent assay (ELISA) for BP 180 and 230 antibodies is commonly done in patients with bullous pemphigoid. We could not find much data…”
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De novo origin of multiple small supernumerary marker chromosomes (sSMCs) in a child with intellectual disability and dysmorphic features
Published in Gene (25-04-2012)“…Small supernumerary marker chromosomes (sSMCs) are a heterogeneous group with regards to their clinical effects as well as their chromosomal origin and their…”
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novo origin of multiple small supernumerary marker chromosomes (sSMCs) in a child with intellectual disability and dysmorphic features
Published in Gene (2012)“…Small supernumerary marker chromosomes (sSMCs) are a heterogeneous group with regards to their clinical effects as well as their chromosomal origin and their…”
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Cytogenetic abnormalities and genomic copy number variations in EPO (7q22) and SEC-61(7p11) genes in primary myelodysplastic syndromes
Published in Blood cells, molecules, & diseases (01-07-2016)“…Myelodysplastic syndromes (MDSs) are heterogeneous clonal haematopoeitic stem cell disorders characterized by ineffective haematopoeisis, cytopenias and risk…”
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Trisomy 8 Mosaicism in a Boy with Dysmorphic Features
Published in Indian pediatrics (01-09-2015)Get full text
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Tetrasomy X in a Child with Upper Limb Deformity
Published in Indian pediatrics (01-05-2015)Get full text
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Prevalence and Association of Dermatological Manifestations with Fanconi Anemia: A Retrospective Study
Published in Indian Dermatology Online Journal (01-09-2018)Get full text
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Clinical, genetic and cytogenetic study of Fanconi anemia in an Indian population
Published in Hematology (Luxembourg) (01-02-2010)“…Fanconi anemia (FA) is a rare autosomal recessive genetic disease, associated with congenital anomalies and a predisposition to cancers. FA patients exhibit…”
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Chromosomal breakage study in children suspected with Fanconi anemia in the Indian population
Published in Journal of pediatric hematology/oncology (01-11-2010)“…Chromosomal breakage investigation using diepoxybutane induction was carried out in 195 pediatric patients suspected with Fanconi anemia (FA). Chromosomal…”
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A first case of primary amenorrhea with i karyotype
Published in Journal of human reproductive sciences (01-01-2011)Get full text
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