Výsledky vyhledávání - "Sankaramoorthy, Aravind"

Akademický článek

Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing

Autor: Arun Shastry, Sankaramoorthy Aravind, Meeta Sunil, Keerthi Ramesh, Berty Ashley, Nithyanandan T., Vedam L. Ramprasad, Ravi Gupta, Somasekar Seshagiri, Upendra Nongthomba, Sameer Phalke

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)

Abstract Background Duchenne muscular dystrophy (DMD) is an X‐linked recessive neuromuscular disorder characterised by progressive irreversible muscle weakness, primarily of the skeletal and the cardiac muscles. DMD is characterised by mutations in

Externí odkaz: https://doaj.org/article/e9775811b28744b8a0080f3a935c303e

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Akademický článek

Circulating MiRNAs of 'Asian Indian Phenotype' Identified in Subjects with Impaired Glucose Tolerance and Patients with Type 2 Diabetes.

Autor: Paramasivam Prabu, Sophie Rome, Chandrakumar Sathishkumar, Sankaramoorthy Aravind, Balakumar Mahalingam, Coimbatore Subramanian Shanthirani, Caroline Gastebois, Audrey Villard, Viswanathan Mohan, Muthuswamy Balasubramanyam

Publikováno v: PLoS ONE, Vol 10, Iss 5, p e0128372 (2015)

Several omics technologies are underway worldwide with an aim to unravel the pathophysiology of a complex phenotype such as type 2 diabetes mellitus (T2DM). While recent studies imply a clinically relevant and potential biomarker role of circulatory

Externí odkaz: https://doaj.org/article/edecb0615d214815a6abcf98217bb994

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Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant

Autor: Leung, Megumi, Sanchez-Castillo, Meredith, Belnap, Newell, Naymik, Marcus, Bonfitto, Anna, Sloan, Jennifer, Hassett, Katie, Jepsen, Wayne M., Sankaramoorthy, Aravind, Stewart, Tracy Murray, Foley, Jackson R., Rangasamy, Sampathkumar, Huentelman, Matthew J., Narayanan, Vinodh, Ramsey, Keri

Publikováno v: In Rare 2024 2

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Akademický článek

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Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations

Autor: Upendra Nongthomba, Berty Ashley, Ashraf U Mannan, Sankaramoorthy Aravind, Aparna Ramachandran, Arun Shastry, Keerthi Ramesh, Aparna Ganapathy

Publikováno v: The Indian Journal of Medical Research
Indian Journal of Medical Research, Vol 150, Iss 3, Pp 282-289 (2019)

Background & objectives: Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder and is caused mainly by deletion, duplication and point mutations in the DMD gene. Diagnosis of DMD has been a challenge as the mutations in the DMD gene are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd9e5c1830646e6713e144ec28b8b13d
http://europepmc.org/articles/PMC6886143

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Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing

Autor: Sankaramoorthy Aravind, Nithyanandan T, Meeta Sunil, Berty Ashley, Somasekar Seshagiri, Upendra Nongthomba, Sameer Phalke, Vedam L. Ramprasad, Arun Shastry, Keerthi Ramesh, Ravi Gupta

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine

Background Duchenne muscular dystrophy (DMD) is an X‐linked recessive neuromuscular disorder characterised by progressive irreversible muscle weakness, primarily of the skeletal and the cardiac muscles. DMD is characterised by mutations in the dyst

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f36531a3744c821b70f818cf85f62ab4
https://doi.org/10.1002/mgg3.1633

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