Detalhe da pesquisa
1.
A new association of PAX6 variation with Juvenile onset open angle glaucoma.
J Hum Genet
; 68(5): 355-358, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599958
2.
Distribution of TGFBI variants in patients with early onset glaucoma.
Mol Vis
; 29: 365-377, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38577561
3.
Clinical profile and treatment outcomes among patients with sporadic and multiple endocrine neoplasia syndrome-related primary hyperparathyroidism.
Clin Endocrinol (Oxf)
; 99(5): 449-458, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37393194
4.
Chronic ocular sequelae in Stevens-Johnson syndrome: a genetic association study.
Mol Vis
; 28: 526-535, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-37089698
5.
Ophthalmic genetics practice and research in India: Vision in 2020.
Am J Med Genet C Semin Med Genet
; 184(3): 718-727, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32865332
6.
Characterization of a Novel POU1F1 Mutation Identified on Screening 160 Growth Hormone Deficiency Patients.
Horm Metab Res
; 51(4): 248-255, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31022740
7.
Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma.
Graefes Arch Clin Exp Ophthalmol
; 256(2): 355-362, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29168043
8.
Glypican-3 mRNA expression level in Wilms tumor: correlation with histological type, stage, and outcome.
Pediatr Surg Int
; 33(6): 695-703, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28432433
9.
Dyskeratosis Congenita with Acute Myeloid Leukemia, Cryptogenic Liver Fibrosis and Portal Hypertension.
J Assoc Physicians India
; 65(12): 88-92, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31556279
10.
Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India.
Mol Vis
; 21: 1252-60, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26622166
11.
Novel MEN 1 gene findings in rare sporadic insulinoma--a case control study.
BMC Endocr Disord
; 15: 44, 2015 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307114
12.
Tumor DNA sampling from aqueous humor in retinoblastoma - A report from South Asia.
Indian J Ophthalmol
; 72(7): 1012-1016, 2024 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38454873
13.
Assessment of fine needle aspiration cytology samples for molecular genetic analysis in neuroblastoma.
Pediatr Surg Int
; 29(11): 1131-8, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23979398
14.
Loss of heterozygosity at 11p13 and 11p15 in Wilms tumor: a study of 22 cases from India.
Pediatr Surg Int
; 29(3): 223-7, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23292539
15.
Role of the HLA-G regulatory region polymorphisms in idiopathic recurrent spontaneous abortions (RSA).
Am J Reprod Immunol
; 90(2): e13740, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37491923
16.
A quantitative trait GWAS on lens thickness identifies novel risk loci on PTPRM in the narrow angle individuals susceptible to PACG.
Eur J Ophthalmol
; 33(5): 1922-1930, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36927043
17.
Clinical and diagnostic imaging profile of three anterior segment dysgenesis disorders presenting with infantile corneal opacities.
Taiwan J Ophthalmol
; 13(4): 505-519, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38249508
18.
Molecular genetic analysis of macular corneal dystrophy patients from North India.
Ophthalmic Res
; 48(1): 28-32, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22261655
19.
Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency.
J Pediatr Endocrinol Metab
; 25(11-12): 1185-90, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23329769
20.
Genetic and clinical profile of patients with hypophosphatemic rickets.
Eur J Med Genet
; 65(8): 104540, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35738466