Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Usha R Dutta"'
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-4 (2022)
Abstract Background β-Thalassemia is an inherited haematological blood disorder in the HBB gene, and variations in this HBB gene lead to the absence/deficiency of the Beta chain synthesis of haemoglobin leading to severe anaemia. Klinefelter syndrom
Externí odkaz:
https://doaj.org/article/ebb037697da2415daa37c174284dc335
Publikováno v:
Walawalkar International Medical Journal, Vol 7, Iss 2, Pp 52-58 (2020)
Introduction and Background: Fanconi Anaemia (FA), an autosomal recessive disorder is one of the most common amongst hereditary causes of idiopathic aplastic anaemia with a worldwide incidence of 1 in 1, 60,000 individuals. Apart from the haemat
Externí odkaz:
https://doaj.org/article/d5959a86e73d4684b6f44c999bb09cf6
Autor:
Usha R. Dutta, Amrita Bhattacherjee, Ashish Bahal, Laxmi P. Posanapally, Kaisar A. Lone, Siddardha Bathula, Ashwin Dalal
Publikováno v:
Molecular Syndromology. 13:370-380
Introduction: The accurate detection of breakpoint regions of disease-associated chromosomal rearrangements helps understand the molecular mechanisms and identify the risks involved with disrupted genes. Methods: In this study, a girl with growth ret
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b374fd89563d59948a0c57f7bfda7aaf
https://doi.org/10.1159/000522011
https://doi.org/10.1159/000522011
Autor:
Aakash Chandran Chidambaram, Kiruthiga Sugumar, Selvamanojkumar Sundaravel, Jaikumar Govindaswamy Ramamoorthy, Siddardha Bathula, Usha R. Dutta
Publikováno v:
Journal of Pediatric Genetics.
Prolidase deficiency (PD) is a rare inborn error of metabolism causing ulcers and other skin disorders, splenomegaly, developmental delay, and recurrent infections. Most of the literature is constituted of isolated case reports. It occurs due to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4433d64eed63d544c05f6b208c5eeda
https://doi.org/10.1055/s-0041-1741007
https://doi.org/10.1055/s-0041-1741007
Publikováno v:
Journal of Research in Medical Sciences, Vol 17, Iss 6, Pp 572-574 (2012)
Aim: To report two patients with recurrent miscarriages and unique reciprocal X-autosomal translocation. Materials and Methods: Cytogenetic analysis was performed using G-banding and Molecular cytogenetic analysis by Fluorescence in situ hybridizatio
Externí odkaz:
https://doaj.org/article/3788413b39db4cd0b5a1e3ceef0328e1
Autor:
Sathish K. Ramaswamy, Aneek Das Bhowmik, Vijaya Kumar Pidugu, Ashwin Dalal, Sudha N. Rao, Usha R. Dutta, V.S. Vineeth, Amrita Bhattacherjee, Kumar Gautam Singh
Publikováno v:
Genomics. 111:1108-1114
Disease associated chromosomal rearrangements often have break points located within disease causing genes or in their vicinity. The purpose of this study is to characterize a balanced reciprocal translocation in a girl with intellectual disability a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f74ae8ae73a21a26b115ffe9b9ac483
https://doi.org/10.1016/j.ygeno.2018.07.005
https://doi.org/10.1016/j.ygeno.2018.07.005
Autor:
Malini S. Suttur, Sushmita Billapati, Rachel A. Jesudasan, Suhana Anand, Usha R. Dutta, Vineeth S. Venugopal, Sravani Gopalasetty, Sangamesh N. Talwar, Ashwin Dalal, Laxmi Priyanka Posanapally
Publikováno v:
Andrologia. 52
Male infertility is a common and severe problem affecting 7% of population. The main objective of this study is to identify the chromosomal abnormalities, Y microdeletions in infertile men and also to access the frequency of abnormal sperm count. Bas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14a8b2d2cf69778215c2fefda8e4b9fa
https://doi.org/10.1111/and.13761
https://doi.org/10.1111/and.13761
Publikováno v:
Case Reports in Genetics, Vol 2012 (2012)
We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic a
Externí odkaz:
https://doaj.org/article/acee657fc832485cbe4a3dd0329992ee
Publikováno v:
Gene. 673:56-60
Rett syndrome is a neurodevelopmental disorder affecting the nervous, musculoskeletal and gastroenteric systems. Affected individuals show normal neonatal development for 6–18 months followed by sudden growth arrest, psychomotor retardation and a b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8b212e20e0d5096b5fa79363aacd473
https://doi.org/10.1016/j.gene.2018.06.045
https://doi.org/10.1016/j.gene.2018.06.045
Publikováno v:
Gene Reports. 8:128-133
Small supernumerary marker chromosomes (sSMC) are a heterogeneous group of chromosomes which are reported in variable phenotypes. They are chromosomal fragments or markers whose origins often cannot be determined by conventional cytogenetic methods a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::13c6c4a760d8f3f4a2d6787d6b462c95
https://doi.org/10.1016/j.genrep.2017.07.002
https://doi.org/10.1016/j.genrep.2017.07.002