Detalles de la búsqueda
1.
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
J Med Genet
; 59(1): 28-38, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33106379
2.
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child.
Clin Genet
; 97(6): 933-937, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32181496
3.
Cognitive Impairment, Ataxia, Dystonia, and Gaze Palsy Due to a Novel Variant in SQSTM1: New Lessons.
Mov Disord
; 39(2): 445-447, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-38279634
4.
Decreased expression of MGMT in correlation with aberrant DNA methylation in esophageal cancer patients from North India.
Tumour Biol
; 39(6): 1010428317705770, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-28621225
5.
Mutation and protein expression analysis of CYP1A1 gene-a study on female breast cancer cases from India.
Tumour Biol
; 35(3): 1965-71, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24096584
6.
Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene.
Stem Cell Res
; 74: 103289, 2024 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38141359
7.
Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich's ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene.
Stem Cell Res
; 76: 103340, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38367363
8.
Generation and characterization of iPSC lines from Friedreich's ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene's first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A).
Stem Cell Res
; 77: 103382, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38484450
9.
Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient.
Stem Cell Res
; 76: 103319, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38340452
10.
Sequencing through hyperexpanded Friedreich's ataxia-GAA repeats by nanopore technology: implications in genotype-phenotype correlation.
Brain Commun
; 5(2): fcad020, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37006329
11.
Lab resource: Single cell line generation and characterization of a human-derived induced pluripotent stem cell line (IGIBi005-A) from a patient with spastic paraplegia/ataxia/ALS phenotype due to the mutation of the gene Kinesin Family Member 5A (KIF5A).
Stem Cell Res
; 64: 102904, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36055117
12.
Generation of two induced pluripotent stem cell (iPSC) lines from patients with Duchenne muscular dystrophy (IGIBi006-A and IGIBi008-A) carrying exonic deletions in the dystrophin gene.
Stem Cell Res
; 64: 102927, 2022 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36191544
13.
Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).
Stem Cell Res
; 53: 102340, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33887582
14.
Hepatitis B virus BCP, Precore/core, X gene mutations/genotypes and the risk of hepatocellular carcinoma in India.
J Med Virol
; 82(7): 1115-25, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20513073
15.
Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.
J Huntingtons Dis
; 9(3): 283-289, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32675418
16.
Childhood onset myoclonus-dystonia associated with a novel KCTD17 variant in an Indian patient.
Parkinsonism Relat Disord
; 117: 105925, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37944475
17.
Exploring the Cytotoxic Potential of Triterpenoids-enriched Fraction of Bacopa monnieri by Implementing In vitro, In vivo, and In silico Approaches.
Pharmacogn Mag
; 13(Suppl 3): S595-S606, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-29142420
18.
Synthetic transcription elongation factors license transcription across repressive chromatin.
Science
; 358(6370): 1617-1622, 2017 12 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-29192133
19.
Evaluation of BODE index and its relationship with systemic inflammation mediated by proinflammatory biomarkers in patients with COPD.
J Inflamm Res
; 9: 187-198, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27920567
20.
Nanocurcumin: a novel antifilarial agent with DNA topoisomerase II inhibitory activity.
J Drug Target
; 22(5): 395-407, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24479705