Works by Thelma, B. K.

Results: 64

Unique demographic history and population substructure among the Coorgs of Southern India.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08073-0

By:

Mukhopadhyay, Anirban;
Kumar, Lomous;
Sran, Kiran;
Thangaraj, Kumarasamy;
Thelma, B. K.

Publication type:

Article

Association of dopaminergic pathway gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes.

Published in:

BMC Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2156-9-26

By:

Prasad, Pushplata;
Kumar, K. M. Prasanna;
Ammini, A. C.;
Gupta, Arvind;
Gupta, Rajeev;
Thelma, B. K.

Publication type:

Article

Charting the Course: Towards a Comprehensive Newborn Screening Program in India.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 43, doi. 10.3390/ijns10030043

By:

Kapoor, Seema;
Gupta, Amit Kumar;
Thelma, B. K.

Publication type:

Article

Evaluation of European coeliac disease risk variants in a north Indian population.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 530, doi. 10.1038/ejhg.2014.137

By:

Senapati, Sabyasachi;
Gutierrez-Achury, Javier;
Sood, Ajit;
Midha, Vandana;
Szperl, Agata;
Romanos, Jihane;
Zhernakova, Alexandra;
Franke, Lude;
Alonso, Santos;
Thelma, B K;
Wijmenga, Cisca;
Trynka, Gosia

Publication type:

Article

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 4, p. 418, doi. 10.1038/sj.ejhg.5201593

By:

Cossée, Mireille;
Demeer, Bénédicte;
Blanchet, Patricia;
Echenne, Bernard;
Singh, Deepika;
Hagens, Olivier;
Antin, Manuela;
Finck, Sonja;
Vallee, Louis;
Dollfus, Hélène;
Hegde, Sridevi;
Springell, Kelly;
Thelma, B. K.;
Woods, Geoffrey;
Kalscheuer, Vera;
Mandel, Jean-Louis

Publication type:

Article

Genetic analyses of a large consanguineous south Indian family reveal novel variants in NAGPA and four hitherto unreported genes in developmental stuttering.

Published in:

Annals of Human Genetics, 2025, v. 89, n. 1, p. 31, doi. 10.1111/ahg.12579

By:

Nandhini Devi, G.;
Yadav, Navneesh;
Jayashankaran, Chandru;
Margret, Jeffrey Justin;
Krishnamoorthy, Mathuravalli;
Lakshmi A, Sorna;
Sundaram, Chandralekha Meenakshi;
Karthikeyan, N. P.;
Thelma, B. K.;
Srisailapathy, C. R. Srikumari

Publication type:

Article

Pharmacophore modeling and virtual screening in search of novel Bruton's tyrosine kinase inhibitors.

Published in:

Journal of Molecular Modeling, 2019, v. 25, n. 7, p. N.PAG, doi. 10.1007/s00894-019-4047-y

By:

Sharma, Aditya;
Thelma, B. K.

Publication type:

Article

Microhomology-mediated endjoining repair mechanism enables rapid and effective indel generations in stem cells.

Published in:

Journal of Biosciences, 2022, v. 47, n. 4, p. 1, doi. 10.1007/s12038-022-00307-1

By:

Yadav, Navneesh;
Thelma, B K

Publication type:

Article

Multiple allelic associations from genes involved in energy metabolism were identified in celiac disease.

Published in:

Journal of Biosciences, 2021, v. 46, n. 3, p. 1, doi. 10.1007/s12038-021-00184-0

By:

Bhagavatula, Sandilya;
Banerjee, Pratibha;
Sood, Ajit;
Midha, Vandana;
Thelma, B. K.;
Senapati, Sabyasachi

Publication type:

Article

Association of polymorphisms of CYP2C9, CYP2C19, and ABCB1, and activity of P-glycoprotein with response to anti-epileptic drugs.

Published in:

Journal of Postgraduate Medicine, 2014, v. 60, n. 3, p. 265, doi. 10.4103/0022-3859.138739

By:

Taur, S. R.;
Kulkarni, N. B.;
Gandhe, P. P.;
Thelma, B. K.;
Ravat, S. H.;
Gogtay, N. J.;
Thatte, U. M.

Publication type:

Article

Evaluation of familial influences on the course and severity of schizophrenia among US and Indian cases.

Published in:

2004

By:

Deshpande, Smita N.;
Bhatia, Triptish;
Wood, Joel;
Brar, Jaspreet S.;
Thelma, B. K.;
Ganguli, Rohan;
Day, Richard;
Gottesman, Irving I.;
Nimgaonkar, Vishwajit L.

Publication type:

journal article

Mutations in the α-synuclein gene in Parkinson's disease among Indians.

Published in:

Acta Neurologica Scandinavica, 2001, v. 103, n. 2, p. 120, doi. 10.1034/j.1600-0404.2001.103002120.x

By:

Nagar, S.;
Juyal, R. C.;
Chaudhary, S.;
Behari, M.;
Gupta, M.;
Rao, S. N.;
Thelma, B. K.

Publication type:

Article

Revisiting Schizophrenia from an Evolutionary Perspective: An Association Study of Recent Evolutionary Markers and Schizophrenia.

Published in:

Schizophrenia Bulletin, 2021, v. 47, n. 3, p. 827, doi. 10.1093/schbul/sbaa179

By:

Bhattacharyya, Upasana;
Deshpande, Smita N;
Bhatia, Triptish;
Thelma, B K

Publication type:

Article

Rare Variants in Tissue Inhibitor of Metalloproteinase 2 as a Risk Factor for Schizophrenia: Evidence From Familial and Cohort Analysis.

Published in:

Schizophrenia Bulletin, 2019, v. 45, n. 1, p. 256, doi. 10.1093/schbul/sbx196

By:

John, Jibin;
Sharma, Aditya;
Kukshal, Prachi;
Bhatia, Triptish;
Nimgaonkar, Vishwajit L;
Deshpande, Smita N;
Thelma, B K

Publication type:

Article

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

Published in:

Nature Genetics, 2015, v. 47, n. 9, p. 979, doi. 10.1038/ng.3359

By:

Shah, Tejas;
Barrett, Jeffrey C;
Daryani, Naser E;
B K, Thelma;
Orchard, Timothy R;
Ng, Siew C;
Weersma, Rinse K;
Jostins, Luke;
Vahedi, Homayon;
Juyal, Ramesh C;
Midha, Vandana;
Ripke, Stephan;
Daly, Mark J;
Alberts, Rudi;
Poustchi, Hossein;
Kim, Won Ho;
Kubo, Michiaki;
Juyal, Garima;
Newman, William G;
Franke, Andre

Publication type:

Article

Correction to: Assessment of the contribution of VDR and VDBP/GC genes in the pathogenesis of celiac disease.

Published in:

2025

By:

Banerjee, Pratibha;
Singh, Harinder;
Tiwari, Priyanka;
Sood, Ajit;
Midha, Vandana;
Singh, Gursewak;
Thelma, B. K.;
Senapati, Sabyasachi

Publication type:

Correction Notice

Correction to: Assessment of the contribution of VDR and VDBP/GC genes in the pathogenesis of celiac disease.

Published in:

2025

By:

Banerjee, Pratibha;
Singh, Harinder;
Tiwari, Priyanka;
Sood, Ajit;
Midha, Vandana;
Singh, Gursewak;
Thelma, B. K.;
Senapati, Sabyasachi

Publication type:

Correction Notice

Celiac disease-associated loci show considerable genetic overlap with neuropsychiatric diseases but with limited transethnic applicability.

Published in:

Journal of Genetics, 2023, v. 102, n. 1, p. 1, doi. 10.1007/s12041-022-01413-7

By:

Sharma, Nidhi;
Banerjee, Pratibha;
Sood, Ajit;
Midha, Vandana;
Thelma, B. K.;
Senapati, Sabyasachi

Publication type:

Article

Correlation between an intronic SNP genotype and ARL15 level in rheumatoid arthritis.

Published in:

Journal of Genetics, 2021, v. 100, n. 1, p. 1, doi. 10.1007/s12041-021-01286-2

By:

PANDEY, ANUJ KUMAR;
SAXENA, AISHWARYA;
DEY, SANJAY KUMAR;
KANJILAL, MAUMITA;
KUMAR, UMA;
THELMA, B. K.

Publication type:

Article

Age-related gene expression alterations by SARS-CoV-2 infection contribute to poor prognosis in elderly.

Published in:

Journal of Genetics, 2020, v. 99, n. 1, p. 1, doi. 10.1007/s12041-020-01233-7

By:

BHATTACHARYYA, UPASANA;
THELMA, B. K.

Publication type:

Article

Genetics of ulcerative colitis: putting into perspective the incremental gains from Indian studies.

Published in:

Journal of Genetics, 2018, v. 97, n. 5, p. 1493, doi. 10.1007/s12041-018-1015-8

By:

Juyal, Garima;
Sood, Ajit;
Midha, Vandana;
Thelma, B. K.

Publication type:

Article

Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects.

Published in:

Journal of Genetics, 2018, v. 97, n. 3, p. 625, doi. 10.1007/s12041-018-0953-5

By:

Kumar, Sumeet;
Yadav, Navneesh;
Pandey, Sanjay;
Thelma, B. K.

Publication type:

Article

FMR1 gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India.

Published in:

Advanced Genetics, 2021, v. 2, n. 2, p. 1, doi. 10.1002/ggn2.10048

By:

Nagarathinam, Indhumathi;
Chong, Samuel S.;
B. K., Thelma;
Justin Margret, Jeffrey;
Venkataraman, Viswanathan;
Natarajan Padmavathy, Karthikeyen;
Srisailapathy, C. R. Srikumari

Publication type:

Article

A simple phenotypic classification for celiac disease.

Published in:

Intestinal Research, 2018, v. 16, n. 2, p. 288, doi. 10.5217/ir.2018.16.2.288

By:

Sood, Ajit;
Midha, Vandana;
Makharia, Govind;
Thelma, B. K.;
Halli, Shivalingappa S.;
Mehta, Varun;
Mahajan, Ramit;
Narang, Vikram;
Sood, Kriti;
Kaur, Kirandeep

Publication type:

Article

Determination of Dopamine-β-hydroxylase Activity in Human Serum Using UHPLC-PDA Detection.

Published in:

Neurochemical Research, 2018, v. 43, n. 12, p. 2324, doi. 10.1007/s11064-018-2653-1

By:

Punchaichira, Toyanji Joseph;
Deshpande, Smita Neelkanth;
Thelma, B. K.

Publication type:

Article

Complex phenotypes in an Indian family with homozygous SCA2 mutations.

Published in:

Annals of Neurology, 2004, v. 55, n. 1, p. 130

By:

Mona Ragothaman;
Nagaraja Sarangmath;
Shashi Chaudhary;
Vishwamohini Khare;
Uma Mittal;
Sangeeta Sharma;
Sreelatha Komatireddy;
Subhabrata Chakrabarti;
Mitali Mukerji;
Ramesh C. Juyal;
B. K. Thelma;
Uday B. Muthane

Publication type:

Article

Evaluation of cytochrome P4502E1 polymorphisms in healthy adult Western Indians and patients with antituberculous drug-induced hepatotoxicity.

Published in:

Indian Journal of Pharmacology, 2016, v. 48, n. 1, p. 42, doi. 10.4103/0253-7613.174519

By:

Gogtay, Nithya J.;
Kapileshwar, Swapnali R.;
Shah, Sanket U.;
Bendkhale, Shital R.;
Ramakrishna, Suresh;
Sridharan, Kannan;
Thelma, B. K.;
Thatte, Urmila M.;
Kshirsagar, Nilima A.

Publication type:

Article

Genetic Profiling of Genes from the Oxidative Stress Pathway Among North and South Indians.

Published in:

Human Biology, 2008, v. 80, n. 2, p. 161, doi. 10.3378/1534-6617(2008)80[161:GPOGFT]2.0.CO;2

By:

Tiwari, A. K.;
Punia, S.;
Juyal, R. C.;
Thelma, B. K.

Publication type:

Article

Normative Genetic Profiles of RAAS Pathway Gene Polymorphisms in North Indian and South Indian Populations.

Published in:

Human Biology, 2007, v. 79, n. 2, p. 241, doi. 10.1353/hub.2007.0033

By:

Prasad, Pushplata;
Thelma, B. K.

Publication type:

Article

Association study identified biologically relevant receptor genes with synergistic functions in celiac disease.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50120-4

By:

Banerjee, Pratibha;
Bhagavatula, Sandilya;
Sood, Ajit;
Midha, Vandana;
Thelma, B. K.;
Senapati, Sabyasachi

Publication type:

Article

Association of regulatory variants of dopamine β-hydroxylase with cognition and tardive dyskinesia in schizophrenia subjects.

Published in:

2020

By:

Punchaichira, Toyanji J;
Mukhopadhyay, Anirban;
Kukshal, Prachi;
Bhatia, Triptish;
Deshpande, Smita N;
Thelma, BK;
Thelma, B K

Publication type:

journal article

Effort to differentiate essential tremor plus and dystonic tremor using whole exome sequencing: an exploratory study.

Published in:

Dystonia (2813-2106), 2024, p. 1, doi. 10.3389/dyst.2024.13181

By:

Pandey, Sanjay;
Yadav, Navneesh;
Dinesh, Shreya;
Rawat, Chandra Shekhar;
Thelma, B. K.

Publication type:

Article

Genome wide study of tardive dyskinesia in schizophrenia.

Published in:

Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01471-y

By:

Lim, Keane;
Lam, Max;
Zai, Clement;
Tay, Jenny;
Karlsson, Nina;
Deshpande, Smita N.;
Thelma, B. K.;
Ozaki, Norio;
Inada, Toshiya;
Sim, Kang;
Chong, Siow-Ann;
Lencz, Todd;
Liu, Jianjun;
Lee, Jimmy

Publication type:

Article

Human Heritable Genome Editing - Potential and Current Status for Clinical Use.

Published in:

Asian Biotechnology & Development Review, 2021, v. 23, n. 1, p. 5

By:

Yadav, Navneesh;
Thelma, B. K.

Publication type:

Article

Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia.

Published in:

Indian Pediatrics, 2020, v. 57, n. 1, p. 49, doi. 10.1007/s13312-020-1703-3

By:

Vats, Pallavi;
Dabas, Aashima;
Jain, Vandana;
Seth, Anju;
Yadav, Sangeeta;
Kabra, Madhulika;
Gupta, Neerja;
Singh, Preeti;
Sharma, Rajni;
Kumar, Ravindra;
Polipalli, Sunil K.;
Batra, Prerna;
Thelma, B. K.;
Kapoor, Seema

Publication type:

Article

Association Between Neonatal Thyroid Stimulating Hormone Status and Maternal Urinary Iodine Status.

Published in:

Indian Pediatrics, 2019, v. 56, n. 6, p. 472, doi. 10.1007/s13312-019-1571-x

By:

Sait, Haseena;
Kapoor, Seema;
Jindal, Ankur;
Garg, Ritika;
Belwal, Ravi Shankar;
Yadav, Sangita;
Gupta, Sangeeta;
Thelma, B. K.

Publication type:

Article

Deletion induced splicing in RIC3 drives nicotinic acetylcholine receptor regulation with implications for endoplasmic reticulum stress in human astrocytes.

Published in:

Glia (0894-1491), 2023, v. 71, n. 5, p. 1217, doi. 10.1002/glia.24333

By:

Yadav, Navneesh;
Thelma, B. K.

Publication type:

Article

The Spectrum of Non-Parkinsonian Tremor: A Registry at a Tertiary Care Teaching Institute.

Published in:

Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.828

By:

Pandey, Sanjay;
Dinesh, Shreya;
Rawat, Chandra Shekhar;
Thelma, B. K.

Publication type:

Article

FMR1 haplotype analyses among Indians: a weak founder effect and other findings.

Published in:

Human Genetics, 2003, v. 112, n. 3, p. 262, doi. 10.1007/s00439-002-0872-6

By:

Sharma, Deepti;
Gupta, Meena;
Thelma, B. K.

Publication type:

Article

Deciphering the landscape of lncRNA-driven ceRNA network in schizophrenia etiology.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00542-1

By:

Mukhopadhyay, Anirban;
Singh, Prithvi;
Dohare, Ravins;
Thelma, B. K.

Publication type:

Article

An Optimal Capillary Screen Cut-off of Thyroid Stimulating Hormone for Diagnosing Congenital Hypothyroidism: Data from a Pilot Newborn Screening Program in Delhi.

Published in:

Indian Pediatrics, 2019, v. 56, n. 4, p. 281, doi. 10.1007/s13312-019-1515-5

By:

Verma, Prashant;
Kapoor, Seema;
Kalaivani, Mani;
Vats, Pallavi;
Yadav, Sangeeta;
Jain, Vandana;
Thelma, B. K.

Publication type:

Article

Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes.

Published in:

BMC Medical Genetics, 2010, v. 11, p. 52, doi. 10.1186/1471-2350-11-52

By:

Prasad, Pushplata;
Tiwari, Arun K.;
Kumar, K. M. Prasanna;
Ammini, A. C.;
Gupta, Arvind;
Gupta, Rajeev;
Thelma, B. K.

Publication type:

Article

Association of TGFβ1, TNFα, CCR2 and CCR5 gene polymorphisms in type-2 diabetes and renal insufficiency among Asian Indians.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 1, doi. 10.1186/1471-2350-8-20

By:

Prasad, Pushplata;
Tiwari, Arun K.;
K. M. Prasanna Kumar;
Ammini, A. C.;
Gupta, Arvind;
Gupta, Rajeev;
Thelma, B. K.

Publication type:

Article

Genetics of schizophrenia from a clinicial perspective.

Published in:

International Review of Psychiatry, 2012, v. 24, n. 5, p. 393, doi. 10.3109/09540261.2012.709178

By:

Kukshal, Prachi;
Thelma, B. K.;
Nimgaonkar, Vishwajit L.;
Deshpande, Smita N.

Publication type:

Article

Evidence of allelic heterogeneity for associations between the NOD2/CARD15 gene and ulcerative colitis among North Indians.

Published in:

Alimentary Pharmacology & Therapeutics, 2007, v. 26, n. 10, p. 1325, doi. 10.1111/j.1365-2036.2007.03524.x

By:

JUYAL, G.;
AMRE, D.;
MIDHA, V.;
SOOD, A.;
SEIDMAN, E.;
THELMA, B. K.

Publication type:

Article

Pedigree Analysis of Familial Primary Concomitant Horizontal Strabismus in Northern India.

Published in:

Strabismus (09273972), 2017, v. 25, n. 4, p. 200, doi. 10.1080/09273972.2017.1350865

By:

Chaudhuri, Zia;
John, Jibin;
Aneja, Satinder;
Thelma, B. K.

Publication type:

Article

Potential of Ayurgenomics Approach in Complex Trait Research: Leads from a Pilot Study on Rheumatoid Arthritis.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045752

By:

Juyal, Ramesh C.;
Negi, Sapna;
Wakhode, Preeti;
Bhat, Sulekha;
Bhat, Bheema;
Thelma, B. K.;
Novelli, Giuseppe

Publication type:

Article

Limited Evidence for Parent-of-Origin Effects in Inflammatory Bowel Disease Associated Loci.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045287

By:

Fransen, Karin;
Mitrovic, Mitja;
Van Diemen, Cleo C.;
K., Thelma B.;
Sood, Ajit;
Franke, Andre;
Schreiber, Stefan;
Midha, Vandana;
Juyal, Garima;
Potocnik, Uros;
Fu, Jingyuan;
Nolte, Ilja;
Weersma, Rinse K.;
Zhaoxia Yu

Publication type:

Article

Caucasian and Asian Specific Rheumatoid Arthritis Risk Loci Reveal Limited Replication and Apparent Allelic Heterogeneity in North Indians.

Published in:

PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031584

By:

Prasad, Pushplata;
Kumar, Ashok;
Gupta, Rajiva;
Juyal, Ramesh C.;
Thelma, B. K.

Publication type:

Article

Effect of rs1108580 of DBH and rs1006737 of CACNA1C on Cognition and Tardive Dyskinesia in a North Indian Schizophrenia Cohort.

Published in:

Molecular Neurobiology, 2023, v. 60, n. 12, p. 6826, doi. 10.1007/s12035-023-03496-4

By:

Punchaichira, Toyanji Joseph;
Kukshal, Prachi;
Bhatia, Triptish;
Deshpande, Smita Neelkanth;
Thelma, B. K.

Publication type:

Article