Zobrazeno 1 - 10 of 30 pro vyhledávání: '"Sridevi Hegde"'
1
A Retrospective Study of the Profile and Outcome of Children with Dravet Syndrome in a Tertiary Care Hospital of Southern India
Autor: Bidisha Banerjee, Sameeta M. Prabhu, Gowthami Lagudu, Mitesh Shetty, Sridevi Hegde
Publikováno v: Journal of Pediatric Epilepsy.
Objective Dravet syndrome (DS) is an epileptic syndrome that shares similarities with febrile seizures (FS), especially before 1 year of age, making it challenging to differentiate the two. We describe the profile of DS, with emphasis on the first ye
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b418a2bc6ed61e5273fef6a3e3adfba5
https://doi.org/10.1055/s-0042-1758660
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2
Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
Autor: Shagufta Parveen, Anandh Dhanushkodi, Sridevi Hegde, Vaishnavi Karthikeyan, Nivedha Veerasubramanian
Publikováno v: Journal of Visualized Experiments.
Chromosomal aneuploidies cause severe congenital malformations including central nervous system malformations and fetal death. Prenatal genetic screening is purely diagnostic and does not elucidate disease mechanism. Although cells from aneuploid fet
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58935bd800fc4ee1587b38a354db5e63
https://doi.org/10.3791/62240-v
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3
A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability
Autor: Laxmi Kirola, Mitesh Shetty, B.K. Thelma, Sridevi Hegde, Kirti Mittal, Madhulika Kabra
Publikováno v: Gene Reports. 12:201-207
Intellectual disability (ID) is characterized by limited intellectual functioning and adaptive behavior, with a global prevalence of ~1–2%. Around 50% of ID cases have a genetic basis, with chromosomal and single gene mutations accounting for ~17
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4e9d41caff104bc6ebfcbc3fd56b64b7
https://doi.org/10.1016/j.genrep.2018.06.011
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4
Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India
Autor: Sheela Nampoorthiri, Francis X Kidangan, G. Ravi Kumar, C. Kiran, R. Chandran, Ratna Dua Puri, Mamatha Gowda, Eswarachary Venkataswamy, Riyaz Akhtar, Meenu Batra, Jayshree Ganapathi Subramanian, Shruti Lingaiah, Sridevi Hegde, Pallavi Mishra, Neerja Gupta, Madhulika Kabra, Anita Kaul, Ishwar Chander Verma, Chitra Andrew, V. L. Ramprasad, Rashmi Bagga, Priya Kadam, Tulika Tayal
Publikováno v: The Journal of Obstetrics and Gynecology of India. 68:462-470
INTRODUCTION: Noninvasive prenatal testing (NIPT) has revolutionized prenatal screening for chromosomal aneuploidies in some countries. Its implementation has been sporadic in developing countries. Given the genetic variation of the people in differe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dbceeeb6b3694384e5e1f764208e211
https://doi.org/10.1007/s13224-017-1061-9
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6
A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders
Autor: Mitesh Shetty, Nimmy Ramdas, Shubhi Sahni, Sridevi Hegde, Nandita Mullapudi
Publikováno v: Molecular Syndromology. 8:313-317
Joubert syndrome and related disorders (JSRD; ORPHA 140874) is a complex set of neurodevelopmental disorders with multiple organ involvement. JSRD is a type of ciliopathy which is caused by the presence of defective primary cilia in an individual. JS
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::125a79ad7cffff1238f879b81130e1ce
https://doi.org/10.1159/000479673
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8
Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers
Autor: Sridevi Hegde, Mitesh Shetty, Jayarama Kadandale, Ambika Srikanth
Publikováno v: Cytogenetic and Genome Research. 148:249-255
Congenital heart defect (CHD) is the most common form of birth defects. There is a high association between increased nuchal translucency and CHD in fetuses, and CHD in the antenatal period has a high incidence of 22q11.2 deletion syndrome (22q11.2DS
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::905ca8f04df03fbf7ee471a33a2ae1a6
https://doi.org/10.1159/000446162
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9
Pre- and Postnatal Analysis of Chromosome 1q44 Deletion in Agenesis of Corpus Callosum
Autor: Mitesh Shetty, Ambika Srikanth, Sridevi Hegde, Jayarama S. Kadandale
Publikováno v: Molecular Syndromology. 6:187-192
Agenesis of corpus callosum (ACC) is one of the common brain abnormalities and also a common finding in children with mental disability. ACC is heterogeneous and can occur as an isolated condition or as part of a syndrome. ACC can be accurately ident
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e8fc01bbd22d7005a9ad1125fa0b2d2
https://doi.org/10.1159/000440659
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10
Evaluation of Cardiac Defect in a Fetus with 8p Interstitial Deletion
Autor: P.R Angel Beula, Jayaprakash, Priti Venkatesh, Sridevi Hegde
Publikováno v: International Journal of Human Genetics. 10:183-186
KEYWORDS 8p Deletion. Prenatal Diagnosis. Congenital Heart Defects. 8p Syndrome ABSTRACT About 30% of all malformations are of genetic origin, and congenital heart defect (CHD) is one of them. Here we report a case at 17 weeks of gestation with a sma
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9a55c47d9e71f4ba11568cf28511499c
https://doi.org/10.1080/09723757.2010.11886104
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