Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Stuti Tewari"'
Autor:
Frenny Sheth, Thomas Liehr, Viraj Shah, Hillary Shah, Stuti Tewari, Dhaval Solanki, Sunil Trivedi, Jayesh Sheth
Publikováno v:
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-9 (2018)
Abstract Background Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a ‘de novo’ event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, copy number alter
Externí odkaz:
https://doaj.org/article/318227c7b19045c7bc1e22ac847973d7
Autor:
Stuti Tewari, Naznin Lubna, Raju Shah, Ahmed B. H. Al-Rikabi, Krati Shah, Jayesh Sheth, Frenny Sheth
Publikováno v:
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-5 (2017)
Abstract Background Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploin
Externí odkaz:
https://doaj.org/article/0fc5ddd3b4c34dad8e285a93a4349797
Autor:
Frenny Sheth, Raju C Shah, Ahmed Al-Rikabi, Krati Shah, Jayesh Sheth, Naznin Lubna, Stuti Tewari
Publikováno v:
Molecular Cytogenetics, Vol 10, Iss 1, Pp 1-5 (2017)
Molecular Cytogenetics
Molecular Cytogenetics
Background Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficien
Autor:
Sunil Trivedi, Hillary Shah, Jayesh Sheth, Dhaval Solanki, Viraj Shah, Frenny Sheth, Thomas Liehr, Stuti Tewari
Publikováno v:
Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-9 (2018)
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-9 (2018)
Background Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a ‘de novo’ event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, copy number alterations an
Autor:
Frenny Sheth, Jigish Trivedi, Thomas Liehr, Stuti Tewari, Jayesh Sheth, Mahesh P, Harsh Sheth, Krati Shah
Publikováno v:
International Journal of Pregnancy & Child Birth. 3
Autor:
Stuti Tewari, Naznin Lubna, Shah, Raju, Al-Rikabi, Ahmed, Krati Shah, Jayesh Sheth, Frenny Sheth
Microcephaly panel (a total of 69 genes) was analyzed. The list of genes is mentioned. (DOCX 11Â kb)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a73c1ae1baa889cb5825fcce767dd17
Autor:
Manisha Desai, Bhumika Patel, Kumari Pritti, Jayesh Sheth, Frenny Sheth, Harsh Sheth, Stuti Tewari
Publikováno v:
Journal of Translational Toxicology. 1:3-9
Publikováno v:
OBM Genetics. 2:1-1
Background: Small supernumerary marker chromosomes (sSMC) are rare cytogenetic findings in general, but especially in Turner syndrome so called sSMCT in a karyotype 46,X,mar are even more scarce. According to the literature sSMCT are derived from one
Publikováno v:
Indian Pediatrics. 50:591-593
Spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis. Due to the high carrier frequency, the burden of this genetic disorder is very heavy in developing countries like India. The aim
Autor:
Stuti Tewari, Frenny Sheth, Pritti Kumari, Jayesh Sheth, Manisha Desai, Joris Andrieux, Nidhish Nanavaty, Harsh Sheth
Publikováno v:
Molecular Cytogenetics
Exact breakpoint determination by oligonucleotide array-CGH has improved the analysis of genotype-phenotype correlations in cases with chromosome aberrations allowing a more accurate definition of relevant genes, particularly their isolated or combin