Výsledky vyhledávání

Akademický článek

Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome

Autor: Annes Siji, K. N. Karthik, Varsha Chhotusing Pardeshi, P. S. Hari, Anil Vasudevan

Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)

Abstract Background Steroid resistant nephrotic syndrome (SRNS) is a genetically heterogeneous disease with significant phenotypic variability. More than 53 podocyte-expressed genes are implicated in SRNS which complicates the routine use of genetic

Externí odkaz: https://doaj.org/article/f446e0df13e84d049bdb85f6a200b19c

Zobrazit plný text záznamu

Plný text ve formátu HTML

Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome

Autor: P. S. Hari, Anil Vasudevan, V. C. Pardeshi, Annes Siji, K. N. Karthik

Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)
BMC Medical Genetics

Background Steroid resistant nephrotic syndrome (SRNS) is a genetically heterogeneous disease with significant phenotypic variability. More than 53 podocyte-expressed genes are implicated in SRNS which complicates the routine use of genetic screening

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a8981a12a3e2dfaa87cb2b5c1e58ecb
http://link.springer.com/article/10.1186/s12881-018-0714-6

Zobrazit plný text záznamu

Plný text ve formátu HTML

Role of genetic screening in the management of familial focal segmental glomerulosclerosis: A tale of two sisters

Autor: Anil Vasudevan, Annes Siji, Arpana Iyengar

Publikováno v: Indian Journal of Nephrology, Vol 29, Iss 4, Pp 305-306 (2019)
Indian Journal of Nephrology

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddfdcc64df12e92384cd7e626bef5bc4
http://www.indianjnephrol.org/article.asp?issn=0971-4065

Zobrazit plný text záznamu

Plný text ve formátu HTML

Screening of WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting

Autor: Annes Siji, V. C. Pardeshi, Ambily Vasudevan, Shilpa Ravindran, Anil Vasudevan

Publikováno v: BMC Medical Genetics

Background Mutations in Wilm’s tumor 1 (WT1) gene is one of the commonly reported genetic mutations in children with steroid resistant nephrotic syndrome (SRNS). We report the results of direct sequencing of exons 8 and 9 of WT1 gene in 100 childre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a405acce8b1bcf7dd963cd8e13c88576
https://doi.org/10.1186/s12881-016-0362-7

Zobrazit plný text záznamu

Additional file 2: Table S1. of Screening of WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting

Autor: Annes Siji, Pardeshi, Varsha, Ravindran, Shilpa, Ambily Vasudevan, Vasudevan, Anil

Summary of the properties of High Resolution Melt and Direct sequencing. (DOCX 12Â kb)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ea9d70f73ded42b836a3c77535349c

Zobrazit plný text záznamu

Authors' Reply

Autor: Anil Vasudevan, Ambili Narikot, VarshaChotu Pardeshi, Annes Siji, Arun George

Publikováno v: Asian Journal of Pediatric Nephrology. 1:99

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::01bcae58a2e9c2cd6703b40bdbd440d9
https://doi.org/10.4103/ajpn.ajpn_29_18

Zobrazit plný text záznamu

Evaluation of High Resolution Melting analysis as an alternate tool to screen for risk alleles associated with small kidneys in Indian newborns

Autor: T. S. Sridhar, Annes Siji, Kishore D. Phadke, Ashwini Raghavendra, Anil Vasudevan

Publikováno v: BMC Nephrology, Vol 12, Iss 1, p 60 (2011)
BMC Nephrology

Background Single nucleotide polymorphisms (SNPs) are the most common forms of sequence variations in the human genome. They contribute to the human phenotypic spectrum and are associated with variations in response to pathogens, drugs and vaccines.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69e5e64a14d87849e1368649d6a47b02
http://www.biomedcentral.com/1471-2369/12/60

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání