Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Tharigopala Arokiasamy"'
Autor:
Sundaramurthy Srilekha, Tharigopala Arokiasamy, Natarajan N Srikrupa, Vetrivel Umashankar, Swaminathan Meenakshi, Parveen Sen, Suman Kapur, Nagasamy Soumittra
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0131679 (2015)
Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are retinal degenerative diseases which cause severe retinal dystrophy affecting the photoreceptors. LCA is predominantly inherited as an autosomal recessive trait and contributes to 5% o
Externí odkaz:
https://doaj.org/article/a04893d8719045459b8f5ccac6dae0f7
Autor:
Suman Kapur, M. Bhende, N.N. Srikrupa, S. Srilekha, Nagasamy Soumittra, S. Meenakshi, Tharigopala Arokiasamy, Parveen Sen
Publikováno v:
Clinical Genetics. 93:329-339
To provide a comprehensive data on the prevalence of mutations in Leber congenital amaurosis (LCA) candidate genes from a larger Indian cohort. Ninety-two unrelated subjects were recruited after complete ophthalmic examination and informed consent. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5074886fbc94cd0c09b14c2e7ad734a
https://doi.org/10.1111/cge.13159
https://doi.org/10.1111/cge.13159
Autor:
Rao, Bhavna S.1,2, Tharigopala, Arokiasamy2, Rachapalli, Sudhir R.3, Rajagopal, Rama3, Soumittra, Nagasamy2 soumi_n@yahoo.co.uk
Publikováno v:
Indian Journal of Ophthalmology. Oct2017, Vol. 65 Issue 10, p931-935. 5p.
Autor:
Marion Neuillé, Christel Condroyer, Mélanie Letexier, Maria Vadalà, Vanessa Démontant, José-Alain Sahel, Isabelle Audo, Sivasankar Malaichamy, Parveen Sen, Tharigopala Arokiasamy, Christelle Michiels, Ramya Sachidanandam, Nagasamy Soumittra, Sundaramurthy Srilekha, Christina Zeitz
Publikováno v:
Clinical Genetics. 89:690-699
Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder which represents rod photoreceptor dysfunction or signal transmission defect from photoreceptors to adjacent bipolar cells. Patients displayin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a527c16f45c75d0ff3a3ce15244077bc
https://doi.org/10.1111/cge.12746
https://doi.org/10.1111/cge.12746
Autor:
Rachapalli R. Sudhir, Bhavna S. Rao, Vetrivel Umashankar, Tharigopala Arokiasamy, Rama Rajagopal, Samdani Ansar, Nagasamy Soumittra
Publikováno v:
Ophthalmic genetics. 39(4)
Fuchs' endothelial corneal dystrophy (FECD) is a complex degenerative disease of the corneal endothelium with genetic predisposition. Pathogenic rare variants have been identified in SLC4A11, LOXHD1, ZEB1, and AGBL1. Association of single nucleotide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2d165fa2a9cafaf673d0766b09e23b5
https://pubmed.ncbi.nlm.nih.gov/29799290
https://pubmed.ncbi.nlm.nih.gov/29799290
Autor:
Sudhir R. Rachapalli, Vedam L. Ramprasad, Govindasamy Kumaramanickavel, Thirumalai Karthiyayini, Sampath K. Loganathan, Rama Rajagopal, Tharigopala Arokiasamy, Dharanija Madhavan, Sundaram Sumathi, Nagasamy Soumittra, Joseph R. Casey
Publikováno v:
Journal of Human Genetics. 59:444-453
Late-onset Fuchs endothelial corneal dystrophy (FECD) shows genetic heterogeneity. Identification of SLC4A11 as a candidate gene for congenital hereditary endothelial dystrophy with similar corneal endothelial defects as FECD and reduced mRNA express
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::130f14303917ea870c758a18fc3aad46
https://doi.org/10.1038/jhg.2014.55
https://doi.org/10.1038/jhg.2014.55
Akademický článek
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Autor:
Nagasamy Soumittra, Tharigopala Arokiasamy, Kaushik Murali, Natarajan N. Srikrupa, Swaminathan Meenakshi
Publikováno v:
Ophthalmic Genetics. 35:119-124
Thiamine responsive megaloblastic anemia syndrome (TRMA), an autosomal recessive disorder is caused by mutations in the SLC19A2 gene which encodes for thiamine transporter 1 (THTR1) protein. TRMA presents with a triad of clinical features that includ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66ede78bef76e2358c6ce4d6ca46e668
https://doi.org/10.3109/13816810.2013.793363
https://doi.org/10.3109/13816810.2013.793363
Autor:
Meenakshi Swaminathan, Tharigopala Arokiasamy, Rupali Gadkari, Parveen Sen, Neetha John, Swati Deshpande, Nagasamy Soumittra, Srilekha Sundaramurthy, Ashraf U Mannan
Publikováno v:
Journal of human genetics. 61(11)
Inherited retinal degeneration (IRD) are a group of genetically heterogeneous disease of which retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are the most common and severe type. In our study we had taken three unrelated South Indian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f378ab64a7bc4391007c96fdea3cf34f
https://pubmed.ncbi.nlm.nih.gov/27383656
https://pubmed.ncbi.nlm.nih.gov/27383656
Autor:
Vetrivel Umashankar, Natarajan N. Srikrupa, Suman Kapur, Parveen Sen, Tharigopala Arokiasamy, Nagasamy Soumittra, Swaminathan Meenakshi, Sundaramurthy Srilekha
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0131679 (2015)
PLoS ONE
PLoS ONE
Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are retinal degenerative diseases which cause severe retinal dystrophy affecting the photoreceptors. LCA is predominantly inherited as an autosomal recessive trait and contributes to 5% o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::484698b92c12eb72d16f532479b02de7
http://europepmc.org/articles/PMC4493089?pdf=render
http://europepmc.org/articles/PMC4493089?pdf=render