المؤلفون: Parveen Sen, Natarajan Srikrupa, Puja Maitra, Sundaramurthy Srilekha, Periyasamy Porkodi, Harshavardhini Gnanasekaran, Muna Bhende, Vikas Khetan, Sinnakaruppan Mathavan, Pramod Bhende, Dhanashree Ratra, Rajiv Raman, Chetan Rao, Sarangapani Sripriya

المصدر: Indian Journal of Ophthalmology, Vol 71, Iss 6, Pp 2512-2520 (2023)

مصطلحات موضوعية: genotype–phenotype correlation, next-generation sequencing, retinitis pigmentosa, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.ijo.in/article.asp?issn=0301-4738;year=2023;volume=71;issue=6;spage=2512;epage=2520;aulast=Sen; https://doaj.org/toc/0301-4738; https://doaj.org/toc/1998-3689

URL الوصول: https://doaj.org/article/e81d15926a5940d990667136de640bb4

المؤلفون: Sundaramurthy Srilekha, Tharigopala Arokiasamy, Natarajan N Srikrupa, Vetrivel Umashankar, Swaminathan Meenakshi, Parveen Sen, Suman Kapur, Nagasamy Soumittra

المصدر: PLoS ONE, Vol 10, Iss 7, p e0131679 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4493089?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/a04893d8719045459b8f5ccac6dae0f7

المؤلفون: Igelman, Austin D, White, Elizabeth, Tayyib, Alaa, Everett, Lesley, Vincent, Ajoy, Heon, Elise, Zeitz, Christina, Michaelides, Michel, Mahroo, Omar A, Katta, Mohamed, Webster, Andrew, Preising, Markus, Lorenz, Birgit, Khateb, Samer, Banin, Eyal, Sharon, Dror, Luski, Shahar, Van Den Broeck, Filip, Leroy, Bart Peter, De Baere, Elfride, Walraedt, Sophie, Stingl, Katarina, Kuehlewein, Laura, Kohl, Susanne, Reith, Milda, Fulton, Anne, Raghuram, Aparna, Meunier, Isabelle, Dollfus, Hélène, Aleman, Tomas S, Bedoukian, Emma C, O'Neil, Erin C, Krauss, Emily, Vincent, Andrea, Jordan, Charlotte, Iannaccone, Alessandro, Sen, Parveen, Sundaramurthy, Srilekha, Nagasamy, Soumittra, Balikova, Irina, Casteels, Ingele, Borooah, Shyamanga, Yassin, Shaden, Nagiel, Aaron, Schwartz, Hillary, Zanlonghi, Xavier, Gottlob, Irene, McLean, Rebecca J, Munier, Francis L, Stephenson, Andrew, Sisk, Robert, Koenekoop, Robert, Wilson, Lorri B, Fredrick, Douglas, Choi, Dongseok, Yang, Paul, Pennesi, Mark Edward

المصدر: British Journal of Ophthalmology (2024) (In press).

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10196790/2/Mahroo_Characterising%20the%20refractive%20error%20in%20paediatric%20patients%20with%20congenital%20stationary%20night%20blindness_AAM.pdf; https://discovery.ucl.ac.uk/id/eprint/10196790/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10196790/2/Mahroo_Characterising%20the%20refractive%20error%20in%20paediatric%20patients%20with%20congenital%20stationary%20night%20blindness_AAM.pdf
https://discovery.ucl.ac.uk/id/eprint/10196790/

المؤلفون: Sundaramurthy, Srilekha, Selvakumar, Ambika, Dharani, Vidhya, Soumittra, Nagasamy, Mani, Jayaprakash, Thirumalai, Karthiyayini, Periyasamy, Porkodi, Mathavan, Sinnakaruppan, Sripriya, Sarangapani

المصدر: Molecular Vision

مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, Adolescent, Optic Atrophy, Hereditary, Leber, Middle Aged, DNA, Mitochondrial, eye diseases, Young Adult, Asian People, Child, Preschool, Mutation, Prevalence, Humans, Child, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e9abd57ccfe1908cec1e62277af467f8
http://europepmc.org/articles/PMC8711579

المؤلفون: Natarajan, Srikrupa N., Gnanasekaran, Harshavardhini, Kandeeban, Suganya, Sundaramurthy, Srilekha, Sripriya, Sarangapani

المصدر: Genetics of Ocular Diseases ; page 143-163 ; ISBN 9789811642463 9789811642470

الاتاحة: http://dx.doi.org/10.1007/978-981-16-4247-0_12
https://link.springer.com/content/pdf/10.1007/978-981-16-4247-0_12

المؤلفون: Sundaramurthy, Srilekha, Swaminathan, Meenakshi, Sen, Parveen, Arokiasamy, Tharigopala, Deshpande, Swati, John, Neetha, Gadkari, Rupali A, Mannan, Ashraf U, Soumittra, Nagasamy

المصدر: Journal of Human Genetics ; volume 61, issue 11, page 951-958 ; ISSN 1434-5161 1435-232X

الاتاحة: http://dx.doi.org/10.1038/jhg.2016.83
http://www.nature.com/articles/jhg201683.pdf
http://www.nature.com/articles/jhg201683

المؤلفون: Sundaramurthy, Srilekha, SelvaKumar, Ambika, Ching, Jared, Dharani, Vidhya, Sarangapani, Sripriya, Yu-Wai-Man, Patrick

المصدر: Graefe's Archive for Clinical and Experimental Ophthalmology ; volume 259, issue 9, page 2461-2472 ; ISSN 0721-832X 1435-702X

الاتاحة: http://dx.doi.org/10.1007/s00417-020-04993-1
https://link.springer.com/content/pdf/10.1007/s00417-020-04993-1.pdf
https://link.springer.com/article/10.1007/s00417-020-04993-1/fulltext.html

المؤلفون: 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

المصدر: Clinical Genetics. 89:690-699

مصطلحات موضوعية: 0301 basic medicine, Congenital stationary night blindness, Genetics, Retinal Disorder, genetic structures, medicine.diagnostic_test, Genetic heterogeneity, Biology, Compound heterozygosity, eye diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030221 ophthalmology & optometry, medicine, Missense mutation, sense organs, Exome, Erg, Genetics (clinical), Electroretinography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a527c16f45c75d0ff3a3ce15244077bc
https://doi.org/10.1111/cge.12746

المؤلفون: Sundaramurthy, Srilekha, SelvaKumar, Ambika, Ching, Jared, Dharani, Vidhya, Sarangapani, Sripriya, Yu-Wai-Man, Patrick

المصدر: Graefe's Archive of Clinical & Experimental Ophthalmology; Sep2021, Vol. 259 Issue 9, p2461-2472, 12p

مصطلحات موضوعية: MITOCHONDRIAL pathology, RETINAL ganglion cells, MITOCHONDRIAL DNA, NEURODEGENERATION, NEUROPATHY, VISION disorders

المؤلفون: Govindasamy Kumaramanickavel, Sundaramurthy Srilekha, Gandra Mamatha, Swaminathan Meenakshi

المصدر: Ophthalmic Genetics. 29:73-78

مصطلحات موضوعية: Male, cis-trans-Isomerases, Silent mutation, genetic structures, Protein Conformation, Molecular Sequence Data, Population, Mutation, Missense, India, Biology, Blindness, Polymerase Chain Reaction, Exon, Mutant protein, Humans, Missense mutation, Coding region, Amino Acid Sequence, Genetic Testing, Eye Proteins, education, Gene, Genetics (clinical), Genetics, education.field_of_study, Sequence Homology, Amino Acid, Retinal Degeneration, Intron, Computational Biology, Infant, Molecular biology, eye diseases, Pedigree, Ophthalmology, Pediatrics, Perinatology and Child Health, Female, sense organs, Carrier Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae5debc4dfba2f0eaa966b081824787d
https://doi.org/10.1080/13816810802008259

المؤلفون: Vetrivel Umashankar, Natarajan N. Srikrupa, Suman Kapur, Parveen Sen, Tharigopala Arokiasamy, Nagasamy Soumittra, Swaminathan Meenakshi, Sundaramurthy Srilekha

المصدر: PLoS ONE, Vol 10, Iss 7, p e0131679 (2015)
PLoS ONE

مصطلحات موضوعية: Male, Candidate gene, Genotype, genetic structures, DNA Mutational Analysis, Leber Congenital Amaurosis, India, lcsh:Medicine, Locus (genetics), Consanguinity, Biology, Polymorphism, Single Nucleotide, Retina, Autosomal recessive trait, Proto-Oncogene Proteins, Retinitis pigmentosa, medicine, Humans, Eye Proteins, lcsh:Science, Oligonucleotide Array Sequence Analysis, Genetics, Multidisciplinary, CRB1, c-Mer Tyrosine Kinase, Homozygote, Retinal Degeneration, lcsh:R, Receptor Protein-Tyrosine Kinases, medicine.disease, Disease gene identification, eye diseases, Pedigree, Phenotype, Mutation, GUCY2D, Female, lcsh:Q, sense organs, Retinitis Pigmentosa, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::484698b92c12eb72d16f532479b02de7
http://europepmc.org/articles/PMC4493089?pdf=render