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Genetics and Neurobiology of Down Syndrome

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Genetics and Neurobiology of Down Syndrome, Colin R Martin, 9780323904568

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The author is a Geneticist by education (PhD, FICMCH) and profession, and has accumulated over 36 years of experience in research and diagnosis. Her main of areas of research revolve around Human Genetics, including in vitro testing of industrial chemicals, hazard assessment of accidental and environmental exposures, radiation bio-dosimetry, diagnosis of heritable disorders and acquired genetic diseases and genetic counseling. Her involvement in the screening of chromosomal aberrations in methyl isocyanate gas (MIC) exposed population shortly after the disaster and 30 years later on those same individuals has earned wide recognition through publications. She has established India’s first CAP accredited Genetics Lab and catered the diagnostic service across the nation and neighboring countries, including testing of Inteferon-a and Dasatinib trials on CML patients. Her diagnostic and research skill has been reflected through her publications in peer-reviewed journals. She has been an assessor for accreditation of medical laboratories for ISO 17025 and ISO 15189 standards. Her current interest is to publish an atlas of chromosome aberrations causing birth defects, disturbed puberty and reproductive failure, and a separate atlas on chromosomal rearrangements in hematologic malignancies, in addition to establishing a dedicated stem cell lab for medical therapeutics and passing on the knowledge to the next generation. Overview Bani Ganguly Preface Bani Ganguly 1. History and Overview of Down Syndrome: Then and Now Bani Ganguly and Nitin Kadam 2. Congenital features and health aspects in Down syndrome Bani Ganguly and Nitin Kadam 3. Chromosomal cause of Down syndrome Bani Ganguly 4. Possible Causes of Chromosomal Non-Disjunction Bani Ganguly 5. Prevention: Prenatal Screening, Testing and Genetic Counseling, and Socio-cultural Aspects of Down Syndrome Bani Ganguly 6. Gene-dosage imbalance of trisomic HSA21 and Genotype-phenotype association in Down syndrome Bani Ganguly 7. Development of specific phenotypes and genetic consequences in Down syndrome: malformations in craniofacial and cardiac anatomy, and development of leukemia and cognitive and learning deficits Bani Ganguly 8. Mitochondrial dysfunction in Down syndrome Bani Ganguly 9. Mitochondrial abnormalities on patho-biology in Down syndrome Bani Ganguly 10. Neurogenesis and genetic consequences in Down syndrome Bani Ganguly 11. Glutamatergic and GABAergic mechanisms and therapeutic targets in Down Syndrome Bani Ganguly 12. Alzheimer Disease in Down syndrome (DSAD) Bani Ganguly 13. MicroRNAs and epigenetic signatures in Down syndrome Bani Ganguly 14. In vivo and in vitro models for research on Down syndrome Bani Ganguly

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