Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Jabasteen Johnson"'
Autor:
Remya Rajan, Aaron Chapla, Jabasteen Johnson, Deny Varghese, H. S. Asha, Felix Jebasingh, Nitin Kapoor, Thomas V. Paul, Nihal Thomas
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract In this study, we analysed the mutation spectrum in subjects with suspected lipodystrophy using a targeted Next-generation sequencing (NGS) approach. Subjects with suspected lipodystrophy were for screened six genes (AGPAT2, BSCL2, LMNA, PPA
Externí odkaz:
https://doaj.org/article/3eff532691fc4fc588d99abe45f2ed64
Autor:
Sophy Korula, Lavanya Ravichandran, Praveen G Paul, Jabasteen Johnson, Aaron Chapla, Sridhar Santhanam, Anna Simon, Sarah Mathai
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 26, Iss 1, Pp 79-86 (2022)
Aim and Objectives: 1. To study the clinical outcome, growth and glycaemic control, 2. To study the frequency and type of genetic mutations. Methods: This is a retrospective study with a review of data of medical records from 2008 till date. Results:
Externí odkaz:
https://doaj.org/article/6499b13e5c4b49db806002a1aa7ab9f6
Autor:
Ajoy Oommen John, Ashish Singh, Anjana Joel, Pratibha Yadav, Divya Bala Thumaty, Fibi Ninan K, Josh Thomas Georgy, Anish Jacob Cherian, Shawn Thomas, Anitha Thomas, Vinotha Thomas, Abraham Peedicayil, Deepak Abraham, Nihal Thomas, Deny Varghese, Parthiban R, Lavanya Ravichandran, Jabasteen Johnson, Bijesh Yadav, Patricia S, Selvamani B, MJ Paul, Raju Titus Chacko, Aaron Chapla
Purpose In a developing country like India, genomic data sets for even the most clinically relevant genes like BRCA1 and BRCA2 is rather scarce. Also, there is a need to identify and screen population specific BRCA hotspots to pave a way for affordab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19d744c4f3e3f37a130ac60124839bcb
https://doi.org/10.21203/rs.3.rs-1897056/v1
https://doi.org/10.21203/rs.3.rs-1897056/v1
Autor:
Aaron Chapla, Jabasteen Johnson, Sophy Korula, Nisha Mohan, Anish Ahmed, Deny Varghese, Parthiban Rangasamy, Lavanya Ravichandran, Felix Jebasingh, Krishna Kumar Agrawal, Noel Somasundaram, Asha Hesarghatta Shyamasunder, Sarah Mathai, Anna Simon, Sujeet Jha, Subhankar Chowdry, Radha Venkatesan, Palany Raghupathy, Nihal Thomas
Publikováno v:
The Journal of clinical endocrinology and metabolism. 107(5)
Context Wolfram syndrome (WFS) is a rare autosomal recessive disorder characterized by juvenile-onset diabetes, diabetes insipidus, optic atrophy, deafness, and progressive neurodegeneration. However, due to the progressive nature of the disease and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ad67bd220ecafa4e55c2d4e59245182
https://pubmed.ncbi.nlm.nih.gov/35018440
https://pubmed.ncbi.nlm.nih.gov/35018440
Autor:
Lavanya Ravichandran, Sophy Korula, Asha H.S., Deny Varghese, Parthiban R, Jabasteen Johnson, Janani Ishwarya, Sahana Shetty, Kripa Elizabeth Cherian, Felix Jebasingh, Nitin Kapoor, Divya Pachat, Sarah Mathai, Anna Simon, Simon Rajaratnam, Thomas V Paul, Nihal Thomas, Aaron Chapla
Purpose Genotyping CYP21A2 gene is known to be extremely challenging and is not utilized as a first tier diagnostic tool in routine clinical practice. Also, with the advent of massive parallel sequencing technology, there is a need for investigating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1bd399f113f2f3720c3b89de4dafe77d
https://doi.org/10.21203/rs.3.rs-535031/v1
https://doi.org/10.21203/rs.3.rs-535031/v1