Zobrazeno 1 - 10
of 63
pro vyhledávání: '"V L Ramprasad"'
Autor:
Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-15 (2020)
Abstract Background To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS). Methods After pre-test counselling, 200 unrelated individuals (includ
Externí odkaz:
https://doaj.org/article/ac50b3dccb2a4559ad84dd3f3290e3d5
Autor:
V. Manjunath, S. G. Thenral, B. R. Lakshmi, Atchayaram Nalini, A. Bassi, K. Priya Karthikeyan, K. Piyusha, R. Menon, A. Malhotra, L. S. Praveena, R. M. Anjanappa, S. M. Sakthivel Murugan, Kiran Polavarapu, Mainak Bardhan, V. Preethish-Kumar, Seena Vengalil, Saraswati Nashi, S. Sanga, M. Acharya, R. Raju, V. R. Pai, V. L. Ramprasad, R. Gupta
Publikováno v:
Human Mutation. 2023:1-10
The sarcoglycanopathies are autosomal recessive limb-girdle muscular dystrophies (LGMDs) caused by the mutations in genes encoding the α, β, γ, and δ proteins which stabilizes the sarcolemma of muscle cells. The clinical phenotype is characterize
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a2ebf1357bb68b9dadb2d6c7a379155
https://doi.org/10.1155/2023/4362273
https://doi.org/10.1155/2023/4362273
Autor:
Viswanathan Mohan, Venkatesan Radha, Thong T. Nguyen, Eric W. Stawiski, Kanika Bajaj Pahuja, Leonard D. Goldstein, Jennifer Tom, Ranjit Mohan Anjana, Monica Kong-Beltran, Tushar Bhangale, Suresh Jahnavi, Radhakrishnan Chandni, Vijay Gayathri, Paul George, Na Zhang, Sakthivel Murugan, Sameer Phalke, Subhra Chaudhuri, Ravi Gupta, Jingli Zhang, Sam Santhosh, Jeremy Stinson, Zora Modrusan, V. L. Ramprasad, Somasekar Seshagiri, Andrew S. Peterson
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)
Abstract Background Maturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic predisposition to MO
Externí odkaz:
https://doaj.org/article/d6c8437dec844385a226c2db1c84a725
Autor:
Raja Pramanik, Avinash Upadhyay, Sachin Khurana, Lalit Kumar, Prabhat S. Malik, Sunesh Kumar, M. D. Ray, S. V. S. Deo, Ritu Gupta, Deepshi Thakral, Sanjay Thulkar, V. L. Ramprasad
Publikováno v:
Indian Journal of Medical and Paediatric Oncology. 43:361-368
Introduction Ovarian cancer is the third most common cancer among Indian women. The data on the hereditary predisposition of these cancers and the clinical outcomes of those with pathogenic mutations is meager in India. Objective The aim of the curre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1847a91a60b55fdaaf8d6258e3bb8f67
https://doi.org/10.1055/s-0042-1746197
https://doi.org/10.1055/s-0042-1746197
Autor:
Shweta Mahalingam, Angela Devanboo, Avinash Pradhan, Ashwini Suravaparu, T. Sai Kiranmai, E. Venkataswamy, V. L. Ramprasad, Priya Kadam
Publikováno v:
The Journal of Obstetrics and Gynecology of India. 73:180-182
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61fa884d4378adc5383ec2ad427e6c99
https://doi.org/10.1007/s13224-022-01730-y
https://doi.org/10.1007/s13224-022-01730-y
Autor:
Snigdha Majumder, Rakshit Shah, Jisha Elias, Yogesh Mistry, Karunakaran Coral, Priyanka Shah, Anand Kumar Maurya, Bharti Mittal, Jason K D'Silva, Sakthivel Murugan, Lakshmi Mahadevan, Rekha Sathian, V L Ramprasad, Papia Chakraborty, Ravi Gupta, Amitabha Chaudhuri, Arati Khanna-Gupta
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0203845 (2018)
Familial adenomatous polyposis (FAP) is an inherited condition arising from genetic defects in the Adenomatous polyposis coli (APC) gene. Carriers with mutations in the APC gene develop polyps in the colon and rectum which if not managed, transition
Externí odkaz:
https://doaj.org/article/2ae8ce8f8fa7419cbd38a330a9843017
Autor:
Abhenil Mittal, S V S Deo, Ajay Gogia, Atul Batra, Akash Kumar, Sandeep Bhoriwal, Koushik Sinha Deb, Ekta Dhamija, V L Ramprasad, Olufunmilayo Olopade, Raja Pramanik
Publikováno v:
Ecancermedicalscience. 16
The spectrum and significance of Variants of Uncertain Significance (VUS) mutations in breast cancer predisposition genes is poorly defined in the Indian population.All new female breast cancer patients from 1 March 2019 to 28 February 2020 were scre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e319191daaacf9aefa6d48bea8adf4
https://pubmed.ncbi.nlm.nih.gov/36200007
https://pubmed.ncbi.nlm.nih.gov/36200007
Autor:
Samarth Kulshreshtha, Ranjana Mishra, Deepti Gupta, Ratna Dua Puri, Vibha Jain, Ishwar C. Verma, V. L. Ramprasad, Renu Saxena
Publikováno v:
Mol Syndromol
We report a family with a spectrum of short stature, craniofacial dysmorphism, and digital anomalies in a father and 2 daughters, with the youngest (proband) displaying a severe phenotype. Clinically, autosomal dominant Robinow syndrome (ADRS) was di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fed2357a50d73690eca58339db9cb9a
https://doi.org/10.1159/000505506
https://doi.org/10.1159/000505506
Autor:
Raman Puri, Anjali Arora, Ratna Dua Puri, Sanghamitra Mishra, Sireesha Movva, Renu Saxena, Jitendra Pal Singh Sawhney, Samarth Kulshrestha, Ishwar C. Verma, Ishpreet K. Biji, Prahlad Balakrishnan, V. L. Ramprasad, Sanika Apte, Nitika Setia
Publikováno v:
Journal of Clinical Lipidology. 14:35-45
Background Familial hypercholesterolemia (FH), an autosomal codominant disorder characterized by very high low-density lipoprotein cholesterol, is strongly associated with premature coronary artery disease. Objectives Molecular landscape of FH in Asi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36facca45bfdc04d1315c5a747e9406c
https://doi.org/10.1016/j.jacl.2019.12.010
https://doi.org/10.1016/j.jacl.2019.12.010
Autor:
Atul Batra, S.V.S. Deo, Ekta Dhamija, Raja Pramanik, Sanjay Thulkar, Ajay Gogia, Abhenil Mittal, Koushik Sinha Deb, V. L. Ramprasad, Olufunmilayo I. Olopade, Sandeep Bhoriwal, Akash Kumar
Publikováno v:
Annals of Surgical Oncology
Background The burden of hereditary breast cancer in India is not well defined. Moreover, genetic testing criteria (National Comprehensive Cancer Network [NCCN] and Mainstreaming Cancer Genetics [MCG] Plus) have never been validated in the Indian pop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::007dd61d5bb6595b8923d03916343a50
https://pubmed.ncbi.nlm.nih.gov/34601666
https://pubmed.ncbi.nlm.nih.gov/34601666