Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Deny Varghese"'
Autor:
Lavanya Ravichandran, Deny Varghese, Parthiban R, Asha H. S, Sophy Korula, Nihal Thomas, Aaron Chapla
Publikováno v:
MethodsX, Vol 9, Iss , Pp 101748- (2022)
Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder due to enzyme defects in adrenal steroidogenesis. Several genes code for these enzymes, out of which mutations in the CYP21A2 gene resulting in 21 hydroxylase deficiency, contrib
Externí odkaz:
https://doaj.org/article/64f2b04bcd544fb78d3b3f24ef1e2b18
Autor:
Mahesh Doddabelavangala Mruthyunjaya, Aaron Chapla, Asha Hesarghatta Shyamasunder, Deny Varghese, Manika Varshney, Johan Paul, Mercy Inbakumari, Flory Christina, Ron Thomas Varghese, Kurien Anil Kuruvilla, Thomas V Paul, Ruby Jose, Annie Regi, Jessie Lionel, L Jeyaseelan, Jiji Mathew, Nihal Thomas
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0168656 (2017)
Pregnant women with diabetes may have underlying beta cell dysfunction due to mutations/rare variants in genes associated with Maturity Onset Diabetes of the Young (MODY). MODY gene screening would reveal those women genetically predisposed and previ
Externí odkaz:
https://doaj.org/article/fac9bf6481ad4257b00e12f90d5f0c2f
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
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
Autor:
Nihal Thomas, Aaron Chapla, Lavanya Ravichandran, Sophy Korula, Sarah Mathai, Felix K Jebasingh, Deny Varghese, Nitin Kapoor, J Jabasteen, Kripa Elizabeth Cherian, H S Asha, Parthiban R, Thomas V Paul, Anna Simon
Publikováno v:
Journal of the Endocrine Society
Background: With substantial challenges in molecular analysis of 21 hydroxylase deficiency and lack of studies in extended panel of genes implicated in CAH, genetic diagnosis is largely unavailable and unaffordable in India. Therefore, we aim to deve
Autor:
Kurien Anil Kuruvilla, Annie Regi, Ruby Jose, Jessie Lionel, Flory Christina, Deny Varghese, Lakshmanan Jeyaseelan, Asha Hesarghatta Shyamasunder, Manika Varshney, Jiji Mathew, Aaron Chapla, Ron T. Varghese, Johan Paul, Thomas V Paul, Mahesh Doddabelavangala Mruthyunjaya, Mercy Inbakumari, Nihal Thomas
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0168656 (2017)
PLoS ONE
PLoS ONE
Pregnant women with diabetes may have underlying beta cell dysfunction due to mutations/rare variants in genes associated with Maturity Onset Diabetes of the Young (MODY). MODY gene screening would reveal those women genetically predisposed and previ