Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Parag M Tamhankar"'
Autor:
Parag M Tamhankar, Manoj Sangoi
Publikováno v:
Journal of Family Medicine and Primary Care, Vol 9, Iss 1, Pp 447-447 (2020)
Externí odkaz:
https://doaj.org/article/acc5bb3cf1cc412aa0a9f12f60a5fd9d
Autor:
Mehul Mistri, Parag M Tamhankar, Frenny Sheth, Daksha Sanghavi, Pratima Kondurkar, Swapnil Patil, Susan Idicula-Thomas, Sarita Gupta, Jayesh Sheth
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e39122 (2012)
Tay Sachs disease (TSD) is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. The mutations leading to Tay Sachs disease in India are yet unknown. We aimed to determine mutations leading to TSD in
Externí odkaz:
https://doaj.org/article/ab9224512e654c88a04c5b2bc0563030
Autor:
C. P. Ravi Kumar, Parag M. Tamhankar, Radhika Manohar, Sheetal Sharda, G. K. Madhavilatha, S. G. Thenral, Sandhya Nair, A. K. Bojamma
Publikováno v:
Journal of Genetics. 102
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ceac54c39c46be74a3d1abd0386c28da
https://doi.org/10.1007/s12041-022-01409-3
https://doi.org/10.1007/s12041-022-01409-3
Publikováno v:
Handbook of DNA Profiling ISBN: 9789811593642
Handbook of DNA Profiling
Handbook of DNA Profiling
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::040daae401b0b3930f7b23f2e0f2e8b3
https://doi.org/10.1007/978-981-16-4318-7_30
https://doi.org/10.1007/978-981-16-4318-7_30
Autor:
Jahnavi Aluri, R Yadav, Suresh Seshadri, Prerna Jhawar, Umair Ahmed Bargir, Snehal Shabrish, Karthik Bharadwaj Tallapaka, Beena Guhan, Malathi Prasad, Manisha Madkaikar, Mukesh Desai, Sivasankar Malaischamy, B. Suresh, Manasi Kulkarni, Sagar Bhattad, Geeta Madathil Govindaraj, Revathi Raj, Vasundhara Tamhankar, Aparna Dalvi, Shilpa Mithbawkar, Jayarekha Raja, Ramya Uppuluri, Vandana Bansal, Gouri Hule, Harsha Prasada Lashkari, Sujatha Jagadeesh, Priyanka Ghosh, Priya Kadam, Parag M Tamhankar, Adinarayan Makam, Priyanka Kambli, Prasad Taur, Maya Gupta, Shweta Mahalingam
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Frontiers in Immunology
Frontiers in Immunology
Prenatal Diagnosis (PND) forms an important part of primary preventive management for families having a child affected with primary immunodeficiency. Although individually sparse, collectively this group of genetic disorders represents a significant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b80506245a1fa9161ff3995db89ade0
https://www.frontiersin.org/articles/10.3389/fimmu.2020.612316/full
https://www.frontiersin.org/articles/10.3389/fimmu.2020.612316/full
Autor:
Lakshmi Vasudevan, Umesh Kalane, Parag M Tamhankar, Katta M. Girisha, Mahesh Kamate, Shaik Mohammad Naushad, Mamta N. Muranjan, Pooja J. Dholakia, Sumita Danda, Sarfaraj Niazi, Vasundhara Tamhankar, Shekhar Patil, Pratima Kondurkar, Reena Gulati, Rita Christopher, Dhaval Solanki, Madhavi Vasikarla, Jayesh Sheth
Publikováno v:
J Pediatr Genet
Glutaric acidemia type 1 (GA-1, OMIM 231670) is an autosomal recessive inborn error of metabolism caused by the deficiency of glutaryl-coenzyme A (CoA) dehydrogenase with most children presenting in infancy with encephalopathy, dystonia, and macrocep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7e65672b344894b2102c3c1e80ca4bc
https://europepmc.org/articles/PMC8416222/
https://europepmc.org/articles/PMC8416222/
Publikováno v:
Journal of Family Medicine and Primary Care
Purpose To describe the seizure pattern, treatment strategies and outcome in a series of children with Rolandic seizures or childhood epilepsy with centrotemporal spikes. Materials and methods Patients were defined as Rolandic epilepsy if on electroe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98009afbb4262300f02bf43d557a424a
https://pubmed.ncbi.nlm.nih.gov/34041163
https://pubmed.ncbi.nlm.nih.gov/34041163
Autor:
Vasundhara Tamhankar, Takeshi Ikeuchi, Yanick J. Crow, Shilpa Mithbawkar, Bin Zhu, John H. Livingston, Luis Seabra, Parag M Tamhankar
Publikováno v:
Neuropediatrics. 51(4)
We report the clinical and molecular characterization of a novel biallelic mutation in the CSF1R gene leading to an autosomal recessive form of childhood onset leukoencephalopathy in a consanguineous family. The female child experienced acute encepha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea72901fc2d803532aa236b51b208e11
https://pubmed.ncbi.nlm.nih.gov/32464672
https://pubmed.ncbi.nlm.nih.gov/32464672
Autor:
Manoj Sangoi, Parag M Tamhankar
Publikováno v:
Journal of Family Medicine and Primary Care, Vol 9, Iss 1, Pp 447-447 (2020)
Journal of Family Medicine and Primary Care
Journal of Family Medicine and Primary Care
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da80ff381e83b5d527779b08171eef0c
https://doi.org/10.4103/jfmpc.jfmpc_878_19
https://doi.org/10.4103/jfmpc.jfmpc_878_19
Publikováno v:
Journal of Human Genetics. 61:163-166
Sandhoff disease (SD) is an autosomal recessive neurodegenerative lysosomal storage disorder caused by mutations in HEXB gene. Molecular pathology is unknown in Indian patients with SD. The present study is aimed to determine mutations spectrum and m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd6baa0d248d38c5cb11480da58d9a28
https://doi.org/10.1038/jhg.2015.130
https://doi.org/10.1038/jhg.2015.130