Zobrazeno 1 - 10
of 155
pro vyhledávání: '"Sumita Danda"'
Publikováno v:
Journal of Cleft Lip Palate and Craniofacial Anomalies, Vol 11, Iss 2, Pp 73-78 (2024)
Context: Craniofacial anomalies (CFAs) are rare congenital anomalies that have a profound impact on social acceptance. Most of the syndromic CFAs are genetic in origin and are the result of alteration in single or multiple genes inherited from parent
Externí odkaz:
https://doaj.org/article/56deafaad3824547a0b752e0e3ee10aa
Autor:
Sneha D. Varkki, Rekha Aaron, Aaron Chapla, Sumita Danda, Priyanka Medhi, N. Jansi Rani, Grace R. Paul
Publikováno v:
The Lancet Regional Health - Southeast Asia, Vol 27, Iss , Pp 100434- (2024)
Summary: Background: Emerging data reveal higher-than-expected prevalence of cystic fibrosis (CF) among non-European populations worldwide including in the Indian subcontinent. Systematic analyses of the CFTR mutation profile, and genotype-phenotype
Externí odkaz:
https://doaj.org/article/4e55993f22db43a4809e8a632a718691
Autor:
Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu
Publikováno v:
Epilepsia Open, Vol 8, Iss 4, Pp 1383-1404 (2023)
Abstract Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in In
Externí odkaz:
https://doaj.org/article/2042c5f568e642f6a08dd0240ef34435
Autor:
Shridhar P Joshi, Maya Thomas, Sangeetha Yoganathan, Sumita Danda, Mahalakshmi Chandran, Anitha Jasper
Publikováno v:
Annals of Indian Academy of Neurology, Vol 26, Iss 3, Pp 268-274 (2023)
Background: Status dystonicus (SD) is a life-threatening movement disorder emergency characterized by increasingly frequent and severe episodes of generalized dystonia, requiring urgent hospital admission. The diverse clinico-etiological spectrum, hi
Externí odkaz:
https://doaj.org/article/f621727f415047c9a0b57a4888eb296b
Autor:
Karthik Muthusamy, Ajith Sivadasan, Luke Dixon, Sniya Sudhakar, Maya Thomas, Sumita Danda, Zbigniew K. Wszolek, Klaas Wierenga, Radhika Dhamija, Ralitza Gavrilova
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Adult-onset leukodystrophies though individually rare are not uncommon. This group includes several disorders with isolated adult presentations, as well as several childhood leukodystrophies with attenuated phenotypes that present at a later age. Mis
Externí odkaz:
https://doaj.org/article/69fe0cc3850640e493d9a0edebafc3c1
Autor:
Agnes Selina, Madhavi Kandagaddala, Vignesh Kumar, Suneetha Susan Cleave Abraham, Sumita Danda, Vrisha Madhuri
Publikováno v:
Bone Reports, Vol 18, Iss , Pp 101690- (2023)
SERPINF1 gene variants lead to a severe type of osteogenesis imperfecta (OI) attributed to defects in the matrix mineralization. We present 18 patients with SERPINF1 gene variants leading to severe progressive deforming OI, the largest series in the
Externí odkaz:
https://doaj.org/article/4e7a867755fe457a9d090975adf80c95
Autor:
Narmadham K Bharathi, Maya Mary Thomas, Sangeetha Yoganathan, Mahalakshmi Chandran, Rekha Aaron, Sumita Danda
Publikováno v:
Annals of Indian Academy of Neurology, Vol 25, Iss 6, Pp 1104-1108 (2022)
Background: Arginase deficiency is considered a masquerader of diplegic cerebral palsy. The rarity of hyperammonemic crisis and the slowly progressive course has made it a unique entity among the urea cycle defects. Objectives: The aim of our study i
Externí odkaz:
https://doaj.org/article/5c5a27a0cc2948cbb8803788bd55e170
Autor:
Madhan Kumar, Sangeetha Yoganathan, Siddarth Todari, Parvathy Suresh, Mahalakshmi Chandran, Sumita Danda, Leni Grace Mathew, Beena Koshy, Maya Thomas
Publikováno v:
Annals of Indian Academy of Neurology, Vol 25, Iss 6, Pp 1238-1241 (2022)
Externí odkaz:
https://doaj.org/article/fb69ae2593db4bfa8232318cfe76a35d
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100290- (2023)
Externí odkaz:
https://doaj.org/article/5395ee3d221c4ed7a0b20d629b8bbe37
Autor:
Sophy Korula, Sangeetha Yoganathan, Jeyanthi Peter, Mahalakshmi Chandran, Chrithunesa S Christudass, Sumita Danda
Publikováno v:
Annals of Indian Academy of Neurology, Vol 25, Iss 5, Pp 983-985 (2022)
Externí odkaz:
https://doaj.org/article/96a9566f1f484fe682834e2542d3054f