Search Results - "Dutta, Usha R."

Beta Thalassemia and Klinefelter syndrome: a rare occurrence by Billapati, Sushmitha, Sowmya, G. C, Tapadia, R. S, Dutta, Usha R

“…Background [beta]-Thalassemia is an inherited haematological blood disorder in the HBB gene, and variations in this HBB gene lead to the absence/deficiency of…”
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A Novel de novo Balanced Reciprocal Translocation t(18;22) Associated with Recurrent Miscarriages: A Case Report by Dutta, Usha R, Ponnala, Rajitha, Dalal, Ashwin

“…Recurrent miscarriage is a major concern in the couples with reproductive problems. The chromosomal abnormalities, mainly balanced rearrangements are reported…”
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The history of human cytogenetics in India—A review by Dutta, Usha R.

“…It is 60years since the discovery of the correct number of chromosomes in 1956; the field of cytogenetics had evolved. The late evolution of this field with…”
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Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation by Dutta, Usha R, Pidugu, Vijaya Kumar, Dalal, Ashwin B

“…To report two patients with recurrent miscarriages and unique reciprocal X-autosomal translocation. Cytogenetic analysis was performed using G-banding and…”
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Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures by Vineeth, Venugopal S., Dutta, Usha R., Tallapaka, Karthik, Das Bhowmik, Aneek, Dalal, Ashwin

“…Rett syndrome is a neurodevelopmental disorder affecting the nervous, musculoskeletal and gastroenteric systems. Affected individuals show normal neonatal…”
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Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing by Dutta, Usha R., Rao, Sudha N., Pidugu, Vijaya Kumar, V.S., Vineeth, Bhattacherjee, Amrita, Bhowmik, Aneek Das, Ramaswamy, Sathish K., Singh, Kumar Gautam, Dalal, Ashwin

“…Disease associated chromosomal rearrangements often have break points located within disease causing genes or in their vicinity. The purpose of this study is…”
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Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of EYA3/EFCAB4b by Dutta, Usha R., Bhattacherjee, Amrita, Bahal, Ashish, Posanapally, Laxmi P., Lone, Kaisar A., Bathula, Siddardha, Dalal, Ashwin

“…Introduction: The accurate detection of breakpoint regions of disease-associated chromosomal rearrangements helps understand the molecular mechanisms and…”
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Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review by Dutta, Usha R., Rajitha, P., Pidugu, Vijaya Kumar, Dalal, Ashwin B.

“…Purpose The purpose of the present study was to investigate the contribution of chromosomal anomalies and the frequency of a particular type of aberration in…”
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Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea by Dutta, Usha R., Pidugu, Vijaya Kumar, Dalal, Ashwin

“…We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic…”
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A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: Molecular characterization of the marker by Dutta, Usha R., Vempally, Subhash, Ranganath, Prajnya, Dalal, Ashwin

“…Supernumerary marker chromosomes (SMC) are heterogeneous group of chromosomes which are reported in variable phenotypes. Approximately 70% originate from…”
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Cytogenetic and molecular study of 370 infertile men in South India highlighting the importance of copy number variations by multiplex ligation‐dependent probe amplification by Dutta, Usha R., Suttur, Malini S., Venugopal, Vineeth S., Posanapally, Laxmi Priyanka, Gopalasetty, Sravani, Talwar, Sangamesh, Anand, Suhana, Billapati, Sushmita, Jesudasan, Rachel A., Dalal, Ashwin

“…Male infertility is a common and severe problem affecting 7% of population. The main objective of this study is to identify the chromosomal abnormalities, Y…”
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Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature by Dutta, Usha R, Hansmann, Ingo, Schlote, Dietmar

“…Abstract Short stature refers to the height of an individual which is below expected. The causes are heterogenous and influenced by several genetic and…”
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Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGS by Dutta, Usha R, Swamy, Venugopala, Ponnala, Rajitha, Aggarwal, Shagun, Dalal, Ashwin

“…Chromosomal abnormalities are a significant cause of human disorders. The characterization of such abnormalities helps in the identification of known/ new…”
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Mosaic Down syndrome with a marker: Molecular cytogenetic characterization of the marker chromosome by Dutta, Usha R., Pidugu, Vijaya Kumar, Goud, Venkatesh, Dalal, Ashwin B.

“…Down syndrome is a complex disorder characterized by well defined and distinctive phenotypic features. Approximately 2–3% of all live-born Down individuals are…”
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Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development by Dutta, Usha R., Pidugu, Vijaya Kumar, Goud, Ch. Venkateshwar, Hoefers, Christiane, Hagemann, Monika, Dalal, Ashwin

“…Ambiguous genitalia or disorder of the sexual development is a birth defect where the external genitals do not have the typical appearance of either a male or…”
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Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India by Dutta, Usha R, Ponnala, Rajitha, Pidugu, Vijaya Kumar, Dalal, Ashwin B

“…The aim of the present study was to investigate the chromosomal abnormalities and to identify the most prevalent or frequent type of chromosomal abnormalities…”
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ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation by Alber, Michael, Kalscheuer, Vera M, Marco, Elysa, Sherr, Elliott, Lesca, Gaetan, Till, Marianne, Gradek, Gyri, Wiesener, Antje, Korenke, Christoph, Mercier, Sandra, Becker, Felicitas, Yamamoto, Toshiyuki, Scherer, Stephen W, Marshall, Christian R, Walker, Susan, Dutta, Usha R, Dalal, Ashwin B, Suckow, Vanessa, Jamali, Payman, Kahrizi, Kimia, Najmabadi, Hossein, Minassian, Berge A

“…We aimed to generate a review and description of the phenotypic and genotypic spectra of mutations. Patients with mutations or chromosomal disruptions…”
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Precision in chromosome identification with leads in molecular cytogenetics: An illustrated review by Dutta, Usha R.

“…Abstract Chromosomal aberrations are a major cause of human genetic diseases. Conventional cytogenetic banding techniques are the method of identification for…”
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A novel mosaic complex supernumerary marker chromosome in a girl with seizures: systematic characterization of the complex marker by Dutta, Usha R., Bahal, Ashish, Vineeth, V.S., Sarvade, Vasantha, Ranganath, Prajnya, Dalal, Ashwin

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A Balanced Reciprocal Translocation T (X;20) in A Girl with Seizures and Intellectual Disability Disrupting ARHGEF9 by Dutta, Usha R, Pidugu, Vijaya Kumar, Kalscheuer, Vera M, Dalal, Ashwin B

“…Background: Chromosomal aberrations are a significant cause of human disorders. The purpose of the present study is to characterize a balanced reciprocal…”
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