Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Tavisha Dama"'
Autor:
Pratiksha Chheda, Shailesh Pande, Tavisha Dama, Sushant Vinarkar, Milind Chanekar, Shweta Limaye, Nilesh Shah, Kirti Chadha
Publikováno v:
Cancer Research, Statistics, and Treatment, Vol 3, Iss 1, Pp 32-41 (2020)
Introduction: There is a growing need for BRCA1/BRCA2 mutation frequencies among hereditary breast and ovarian carcinoma (HBOC) cases, specifically determined on the grounds of personal and family history profiles in the Indian population. The curren
Externí odkaz:
https://doaj.org/article/c3d2281013cc474b8d8d3b8a24af8fd3
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 15, Iss 4, Pp GD04-GD06 (2021)
Rett syndrome is an X-linked dominant disorder that is primarily seen in females and is linked to mutations in the gene coding for Methyl-CpG Binding Protein 2 (MeCP2). It is a neurodevelopmental disorder characterised by impairments in language, re
Externí odkaz:
https://doaj.org/article/02fbc20b71fc4fb1a68316420e815c7e
Autor:
Milind Chanekar, Kirti Chadha, Shailesh Pande, Pratiksha Chheda, Tavisha Dama, Nilesh Shah, Shweta Limaye, Sushant Vinarkar
Publikováno v:
Cancer Research, Statistics, and Treatment, Vol 3, Iss 1, Pp 32-41 (2020)
Introduction: There is a growing need for BRCA1/BRCA2 mutation frequencies among hereditary breast and ovarian carcinoma (HBOC) cases, specifically determined on the grounds of personal and family history profiles in the Indian population. The curren
Publikováno v:
Archives of Clinical and Medical Case Reports.
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 15, Iss 4, Pp GD04-GD06 (2021)
Rett syndrome is an X-linked dominant disorder that is primarily seen in females and is linked to mutations in the gene coding for Methyl-CpG Binding Protein 2 (MECP2). It is a neurodevelopmental disorder characterised by impairments in language, rep
Publikováno v:
Neurology India. 70:1615
Oftentimes, a variation at the multiplex ligation-dependent probe amplification (MLPA) probe binding site leads to improper hybridrization/ligation of the probe showing up as a deletion of an exon leading to false positive results for the detection o
Autor:
Milind Chanekar, Anurita Pais, Pratiksha Chheda, Rajesh Bendre, Yogita Salunkhe, Nilesh Shah, Tavisha Dama, Shailesh Pande
Publikováno v:
Molecular Diagnosis & Therapy. 22:353-359
Huntington’s disease (HD) is an autosomal-dominant neurodegenerative disorder with an average age at onset of 40 years. It is a polyglutamine (polyQ) disorder that is caused by an increase in the number of CAG repeats in the huntingtin (HTT) gene.
Publikováno v:
Fetal and pediatric pathology. 37(6)
Cystic fibrosis (CF) is a genetic disease usually diagnosed by clinical findings and abnormal sweat chloride testing.We report a case of an 18-month-old Indian female with clinical findings suggestive of CF referred for genetic confirmation. The CFTR
Autor:
Tavisha Dama, Pratiksha Chheda, Sandeep Warghade, Rajesh Bendre, Jyothi Mathias, Sunmeet Matkar, Nilesh Shah
Publikováno v:
Journal of clinical laboratory analysis. 32(5)
Background: Determination of HLA-B27 status plays an important role as adjuvant in suspected cases for diagnosis of Ankylosing Spondilytis (AS). Objectives of this study were to evaluate (i) flow cytometry method in comparison with DNA microarray for
Publikováno v:
Neurology India. Jul/Aug2022, Vol. 70 Issue 4, p1615-1617. 3p.