Detalhe da pesquisa
1.
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort.
J Hum Genet
; 69(1): 13-18, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37848720
2.
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia.
Clin Genet
; 105(4): 453-454, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38072398
3.
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Epilepsia
; 65(3): 709-724, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38231304
4.
Exploring the clinical utility of exome sequencing/mono, duo, trio in prenatal testing: a retrospective study in a tertiary care centre in south India.
J Perinat Med
; 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38709224
5.
First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.
Am J Med Genet A
; 188(8): 2501-2504, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35596688
6.
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
Am J Med Genet A
; 188(3): 788-805, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863015
7.
Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.
Pediatr Dermatol
; 39(3): 420-424, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35412663
8.
Association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms with vitamin B12 deficiency and adverse perinatal outcomes among pregnant women of rural South India - a cross sectional longitudinal study.
J Perinat Med
; 50(9): 1230-1238, 2022 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822733
9.
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.
Am J Med Genet A
; 185(5): 1606-1609, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33569879
10.
Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results.
Am J Hematol
; 96(9): 1156-1165, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161616
11.
An unusual case of keratinopathic icthyosis: a diagnostic conundrum.
Dermatol Online J
; 27(6)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387055
12.
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
J Hum Genet
; 65(11): 971-984, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651481
13.
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Am J Hum Genet
; 99(1): 125-38, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374770
14.
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
BMC Med Genet
; 20(1): 31, 2019 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30764785
15.
High expression of S100 calgranulin genes in peripheral blood mononuclear cells from patients with Takayasu arteritis.
Cytokine
; 114: 61-66, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30594066
16.
A descriptive pilot study of mitochondrial mutations & clinical phenotype in fibromyalgia syndrome.
Indian J Med Res
; 149(1): 47-50, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31115374
17.
Study of familial aggregation of autoimmune rheumatic diseases in Asian Indian patients with systemic lupus erythematosus.
Rheumatol Int
; 39(12): 2053-2060, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31263994
18.
Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism from India.
Natl Med J India
; 32(3): 141-143, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32129306
19.
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial.
Am J Hematol
; 92(11): 1170-1176, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28762527
20.
Unusual Magnetic Resonance Imaging Findings in 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency.
Neuropediatrics
; 53(6): 445-447, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35193149