Zobrazeno 1 - 10
of 49
pro vyhledávání: '"C R Srikumari Srisailapathy"'
Autor:
Aparna Ganapathy, Nishtha Pandey, C R Srikumari Srisailapathy, Rajeev Jalvi, Vikas Malhotra, Mohan Venkatappa, Arunima Chatterjee, Meenakshi Sharma, Rekha Santhanam, Shelly Chadha, Arabandi Ramesh, Arun K Agarwal, Raghunath R Rangasayee, Anuranjan Anand
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e84773 (2014)
Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromic hearing loss (ARNSHL) in India, we examined 374 families
Externí odkaz:
https://doaj.org/article/4966d0f5c2c5493187f15145c697908f
Autor:
Jeffrey Justin Margret, Chandru Jayasankaran, Pavithra Amritkumar, Hela Azaiez, C. R. Srikumari Srisailapathy
Publikováno v:
Advanced Genetics, Vol 5, Iss 2, Pp n/a-n/a (2024)
Abstract The co‐occurrence of sensorineural hearing loss and male infertility has been reported in several instances, suggesting potential shared genetic underpinnings. One such example is the contiguous gene deletion of CATSPER2 and STRC genes, pr
Externí odkaz:
https://doaj.org/article/ba7948f06d9b450aa3b2df100df05b13
Autor:
Indhumathi Nagarathinam, Samuel S. Chong, Thelma B. K., Jeffrey Justin Margret, Viswanathan Venkataraman, Karthikeyen Natarajan Padmavathy, C. R. Srikumari Srisailapathy
Publikováno v:
Advanced Genetics, Vol 2, Iss 2, Pp n/a-n/a (2021)
Abstract Fragile X syndrome is the most common genetic cause of intellectual disability (ID) and is also well known to have a role in primary ovarian insufficiency (POI) and fragile X‐associated tremor ataxia syndrome (FXTAS) that expresses across
Externí odkaz:
https://doaj.org/article/8fda0bafb7fe4a5ba2190605357b9fc7
Autor:
Nandhini Devi Gunasekaran, Chandru Jayasankaran, Jeffrey Justin Margret, Mathuravalli Krishnamoorthy, C. R. Srikumari Srisailapathy
Publikováno v:
Advanced Genetics, Vol 2, Iss 2, Pp n/a-n/a (2021)
Abstract Stuttering is a childhood‐onset fluency disorder, intertwined with physiological, emotional, and anxiety factors. The present study was designed to evaluate the recurrence of the reported mutations among three previously implicated (GNPTAB
Externí odkaz:
https://doaj.org/article/407f0c9631044feba9f9cb270d86ad1e
Autor:
Pavithra Amritkumar, Justin Margret Jeffrey, Jayasankaran Chandru, Paridhy Vanniya S, M. Kalaimathi, Rajagopalan Ramakrishnan, N. P. Karthikeyen, C. R. Srikumari Srisailapathy
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-24 (2018)
Abstract Background DFNB1, the first locus to have been associated with deafness, has two major genes GJB2 & GJB6, whose mutations have played vital role in hearing impairment across many ethnicities in the world. In our present study we have focused
Externí odkaz:
https://doaj.org/article/8e140fa3577c452ba05f12832f18e30b
Autor:
Sharanya Narasimhan, Ramakrishnan Rajagopalan, Jeffrey Justin Margret, Gnanaprakash Visvanathan, Chandru Jayasankaran, Kota Rekha, C. R. Srikumari Srisailapathy
Publikováno v:
Hearing, Balance and Communication. 20:21-31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86a30f40ee9b05b28f474a7db521c097
https://doi.org/10.1080/21695717.2021.1989249
https://doi.org/10.1080/21695717.2021.1989249
Autor:
Noam Shomron, Karen B. Avraham, Jayasankaran Chandru, Le Cheng, Paridhy Vanniya. S, C. R. Srikumari Srisailapathy, Justin Margret Jeffrey, Zippora Brownstein, Mathuravalli Krishnamoorthy, Tom Rabinowitz
Publikováno v:
Annals of Human Genetics. 86:1-13
The study was conducted between 2018 and 2020. From a cohort of 113 hearing impaired (HI), five non-DFNB12 probands identified with heterozygous CDH23 variants were subjected to exome analysis. This resolved the etiology of hearing loss (HL) in four
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f298c7f2fd9e1c55ca19f21b65a9783c
https://doi.org/10.1111/ahg.12442
https://doi.org/10.1111/ahg.12442
Autor:
C. R. Srikumari Srisailapathy, Subathra Mahalingam, Justin Margret Jeffrey, S. Paridhy Vanniya, N. P. Karthikeyen, Amritkumar Pavithra, Jayasankaran Chandru, G. Nandhini Devi
Publikováno v:
European Archives of Oto-Rhino-Laryngology. 277:3021-3035
Assortative mating (AM) or preferential mating is known to influence the genetic architecture of the hearing-impaired (HI) population. AM is now seen as a universal phenomenon with individuals seeking partners based on quantitative, qualitative, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a0f757c369c6ad3c4eeae5ec6e8e620
https://doi.org/10.1007/s00405-020-06026-3
https://doi.org/10.1007/s00405-020-06026-3
Unravelling the mechanism of non-syndromic hearing loss (NSHL) through genetic studies have till date been perplexed by several factors such as genetic heterogeneity, multiple phenotypes, consanguinity and marriages between hearing impaired persons.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f94c40dc58f3df07e22459733bc7465d
https://doi.org/10.9734/bpi/nfmmr/v1/3292f
https://doi.org/10.9734/bpi/nfmmr/v1/3292f
Autor:
Paridhy, Vanniya S, Jayasankaran, Chandru, Justin Margret, Jeffrey, Tom, Rabinowitz, Zippora, Brownstein, Mathuravalli, Krishnamoorthy, Karen B, Avraham, Le, Cheng, Noam, Shomron, C R Srikumari, Srisailapathy
Publikováno v:
Annals of human geneticsREFERENCES. 86(1)
The study was conducted between 2018 and 2020. From a cohort of 113 hearing impaired (HI), five non-DFNB12 probands identified with heterozygous CDH23 variants were subjected to exome analysis. This resolved the etiology of hearing loss (HL) in four
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d234f65dae95f1dfd8cc39e6e771de24
https://pubmed.ncbi.nlm.nih.gov/34374074
https://pubmed.ncbi.nlm.nih.gov/34374074