Lista de obras - B.K Thelma - Dominio Público Uruguay

A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility

artículo científico publicado en 2016

A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians

scientific journal article

A preliminary study of association of genetic variants with early response to olanzapine in schizophrenia

artículo científico publicado en 2018

A simple phenotypic classification for celiac disease.

artículo científico publicado en 2018

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

scientific article published on 01 July 2018

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

scientific article published on 01 April 2019

Assessment of a clinical checklist in the diagnosis of fragile X syndrome in India.

artículo científico publicado en 2009

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

scientific article published on 01 June 2019

Association analysis of NOTCH 4 polymorphisms with schizophrenia among two independent family based samples

scientific article published on 01 November 2004

Association of Cullin1 haplotype variants with rheumatoid arthritis and response to methotrexate

artículo científico publicado en 2011

Association of TGFbeta1, TNFalpha, CCR2 and CCR5 gene polymorphisms in type-2 diabetes and renal insufficiency among Asian Indians

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

Association study of MiRSNPs with schizophrenia, tardive dyskinesia and cognition.

artículo científico publicado en 2016

Association study of schizophrenia among Indian families

artículo científico publicado en 1999

Associations between common variants in the MDR1 (ABCB1) gene and ulcerative colitis among North Indians

scientific article published on 01 January 2009

Attempts to replicate genetic associations with schizophrenia in a cohort from north India.

artículo científico

Caucasian and Asian specific rheumatoid arthritis risk loci reveal limited replication and apparent allelic heterogeneity in north Indians

artículo científico publicado en 2012

Characterization of SNPs in the dopamine-β-hydroxylase gene providing new insights into its structure-function relationship

artículo científico publicado en 2017

Chronic renal insufficiency among Asian Indians with type 2 diabetes: I. Role of RAAS gene polymorphisms.

artículo científico publicado en 2006

Clinical and genetic correlates of severity in schizophrenia in India: An ordinal logistic regression approach ⬇️

artículo científico publicado el 28 de mayo de 2011

Computational insight into the three-dimensional structure of ADP ribosylation factor like protein 15, a novel susceptibility gene for rheumatoid arthritis

artículo científico publicado en 2020

Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles.

artículo científico publicado en 2019

Correlates of response to Olanzapine in a North Indian Schizophrenia sample.

artículo científico publicado en 2008

Deep sequencing identifies novel regulatory variants in the distal promoter region of the dopamine-β-hydroxylase gene

artículo científico publicado en 2016

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

artículo científico publicado en 2011

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

scientific article published on 24 October 2018

Differing correlates for suicide attempts among patients with schizophrenia or schizoaffective disorder in India and USA.

artículo científico publicado en 2006

Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism

artículo científico publicado en 2016

Distinct de novo deletions in a brother-sister pair with RTT: a case report.

artículo científico publicado en 2011

Does heterochromatin variation potentiate speciation? A study in Nesokia

scientific article published on 01 January 1988

Dopaminergic gene polymorphisms and cognitive function in a north Indian schizophrenia cohort.

scientific article published on 08 August 2013

Dopaminergic pathway gene polymorphisms and genetic susceptibility to schizophrenia among north Indians.

artículo científico publicado en 2009

Early Onset Parkinson's disease due to DJ1 mutations: An Indian study.

artículo científico publicado en 2016

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

artículo científico publicado en 2023

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

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

scientific article published on 24 September 2007

Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes.

artículo científico publicado en 2016

Expanding the canvas of PRKN mutations in familial and early-onset Parkinson disease

scientific article published on 09 August 2019

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

scientific article published on 14 December 2002

FMR1 haplotype analysis among Indian communities.

artículo científico publicado en 2002

Factors Associated with Transient Neonatal Hyperthyrotropinemia

scientific article published on 08 November 2019

Folate-sensitive fragile sites on the X-chromosome heterochromatin of the Indian mole rat, Nesokia indica

artículo científico publicado en 1987

Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing.

artículo científico publicado en 2011

Functional characterisation of ADP ribosylation factor-like protein 15 in rheumatoid arthritis synovial fibroblasts.

artículo científico publicado en 2018

Functional characterization of rare variants in human dopamine receptor D4 gene by genotype-phenotype correlations.

artículo científico

Genetic susceptibility to Parkinson's disease among South and North Indians: I. Role of polymorphisms in dopamine receptor and transporter genes and association of DRD4 120-bp duplication marker.

artículo científico publicado en 2006

Genetic susceptibility to Tardive Dyskinesia in chronic schizophrenia subjects: V. Association of CYP1A2 1545 C>T polymorphism

scientific article published on 12 September 2006

Genetic susceptibility to tardive dyskinesia in chronic schizophrenia subjects: I. Association of CYP1A2 gene polymorphism

scientific article published on 01 January 2005

Genetic susceptibility to tardive dyskinesia in chronic schizophrenia subjects: III. Lack of association of CYP3A4 and CYP2D6 gene polymorphisms

scientific article published on 01 June 2005

Genetics of schizophrenia from a clinicial perspective.

artículo científico publicado en 2012

Genome-wide analysis of methotrexate pharmacogenomics in rheumatoid arthritis shows multiple novel risk variants and leads for TYMS regulation.

artículo científico publicado en 2014

Heterochromatin variation and sex chromosome polymorphism in Nesokia indica: a population study

scientific article published on 01 January 1983

II. Serotonin receptor gene polymorphisms and their association with tardive dyskinesia among schizophrenia patients from North India.

artículo científico publicado en 2005

Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.

artículo científico publicado en 2016

Identification of critical variants within SLC44A4, an ulcerative colitis susceptibility gene identified in a GWAS in north Indians.

artículo científico publicado en 2016

In vivo sister chromatid exchanges in the euchromatin and constitutive heterochromatin of the Indian mole rat, Nesokia indica

scientific article published on 01 January 1982

Leads from xenobiotic metabolism genes for Parkinson’s disease among north Indians ⬇️

artículo científico publicado el 1 de diciembre de 2011

Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci

artículo científico publicado en 2012

Low hygiene and exposure to infections may be associated with increased risk for ulcerative colitis in a North Indian population

artículo científico publicado en 2014

Multiple rare inherited variants in a four generation schizophrenia family offer leads for complex mode of disease inheritance

scientific article published on 05 December 2019

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

scientific article published on 01 February 2001

Normative genetic profiles of RAAS pathway gene polymorphisms in North Indian and South Indian populations.

artículo científico publicado en 2007

Novel, Replicated Associations Between Dopamine D3 Receptor Gene Polymorphisms and Schizophrenia in Two Independent Samples

article

Parkin mutations in familial and sporadic Parkinson's disease among Indians.

artículo científico publicado en 2006

Pedigree Analysis of Familial Primary Concomitant Horizontal Strabismus in Northern India

scientific article published on 10 August 2017

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

scientific article published on 06 June 2019

Polymorphism of the p53 codon 72 Arg/Pro and the risk of HPV type 16/18-associated cervical and oral cancer in India.

artículo científico publicado en 2003

Population and genomic lessons from genetic analysis of two Indian populations.

artículo científico publicado en 2014

Possible role of rare variants in Trace amine associated receptor 1 in schizophrenia.

artículo científico publicado en 2017

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

artículo científico publicado el 26 de septiembre de 2012

Random/nonrandom X-chromosome inactivation in Nesokia indica: possible influence of heterochromatin

scientific article published on 01 January 1991

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

artículo científico publicado en 2018

Rare variant based evidence for oligogenic contribution of neurodevelopmental pathway genes to schizophrenia

scientific article published on 04 January 2019

Rare variants in Protein tyrosine phosphatase, receptor type A (PTPRA) in schizophrenia: Evidence from a family based study

scientific article published on 27 December 2018

Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India

artículo científico publicado en 2013

VPS35 and EIF4G1 mutations are rare in Parkinson's disease among Indians ⬇️

artículo científico publicado el 28 de mayo de 2013

Validation of Polymerase Chain Reaction-Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients

artículo científico publicado en 2016

Lista de obras de B.K Thelma

A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility

A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians

A preliminary study of association of genetic variants with early response to olanzapine in schizophrenia

A simple phenotypic classification for celiac disease.

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

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

Assessment of a clinical checklist in the diagnosis of fragile X syndrome in India.

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

Association analysis of NOTCH 4 polymorphisms with schizophrenia among two independent family based samples

Association of Cullin1 haplotype variants with rheumatoid arthritis and response to methotrexate

Association of TGFbeta1, TNFalpha, CCR2 and CCR5 gene polymorphisms in type-2 diabetes and renal insufficiency among Asian Indians

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

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

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

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

Association study of MiRSNPs with schizophrenia, tardive dyskinesia and cognition.

Association study of schizophrenia among Indian families

Associations between common variants in the MDR1 (ABCB1) gene and ulcerative colitis among North Indians

Attempts to replicate genetic associations with schizophrenia in a cohort from north India.

Caucasian and Asian specific rheumatoid arthritis risk loci reveal limited replication and apparent allelic heterogeneity in north Indians

Characterization of SNPs in the dopamine-β-hydroxylase gene providing new insights into its structure-function relationship

Chronic renal insufficiency among Asian Indians with type 2 diabetes: I. Role of RAAS gene polymorphisms.

Clinical and genetic correlates of severity in schizophrenia in India: An ordinal logistic regression approach ⬇️

Computational insight into the three-dimensional structure of ADP ribosylation factor like protein 15, a novel susceptibility gene for rheumatoid arthritis

Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles.

Correlates of response to Olanzapine in a North Indian Schizophrenia sample.

Deep sequencing identifies novel regulatory variants in the distal promoter region of the dopamine-β-hydroxylase gene

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

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

Differing correlates for suicide attempts among patients with schizophrenia or schizoaffective disorder in India and USA.

Discovery of a frameshift mutation in podocalyxin-like (PODXL) gene, coding for a neural adhesion molecule, as causal for autosomal-recessive juvenile Parkinsonism

Distinct de novo deletions in a brother-sister pair with RTT: a case report.

Does heterochromatin variation potentiate speciation? A study in Nesokia

Dopaminergic gene polymorphisms and cognitive function in a north Indian schizophrenia cohort.

Dopaminergic pathway gene polymorphisms and genetic susceptibility to schizophrenia among north Indians.

Early Onset Parkinson's disease due to DJ1 mutations: An Indian study.

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

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

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

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

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

Evidence of mutations in RIC3 acetylcholine receptor chaperone as a novel cause of autosomal-dominant Parkinson's disease with non-motor phenotypes.

Expanding the canvas of PRKN mutations in familial and early-onset Parkinson disease

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

FMR1 haplotype analysis among Indian communities.

Factors Associated with Transient Neonatal Hyperthyrotropinemia

Folate-sensitive fragile sites on the X-chromosome heterochromatin of the Indian mole rat, Nesokia indica

Fragile X CGG repeat variation in Tamil Nadu, South India: a comparison of radioactive and methylation-specific polymerase chain reaction in CGG repeat sizing.

Functional characterisation of ADP ribosylation factor-like protein 15 in rheumatoid arthritis synovial fibroblasts.

Functional characterization of rare variants in human dopamine receptor D4 gene by genotype-phenotype correlations.

Genetic susceptibility to Parkinson's disease among South and North Indians: I. Role of polymorphisms in dopamine receptor and transporter genes and association of DRD4 120-bp duplication marker.

Genetic susceptibility to Tardive Dyskinesia in chronic schizophrenia subjects: V. Association of CYP1A2 1545 C>T polymorphism

Genetic susceptibility to tardive dyskinesia in chronic schizophrenia subjects: I. Association of CYP1A2 gene polymorphism

Genetic susceptibility to tardive dyskinesia in chronic schizophrenia subjects: III. Lack of association of CYP3A4 and CYP2D6 gene polymorphisms

Genetics of schizophrenia from a clinicial perspective.

Genome-wide analysis of methotrexate pharmacogenomics in rheumatoid arthritis shows multiple novel risk variants and leads for TYMS regulation.

Heterochromatin variation and sex chromosome polymorphism in Nesokia indica: a population study

II. Serotonin receptor gene polymorphisms and their association with tardive dyskinesia among schizophrenia patients from North India.

Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.

Identification of critical variants within SLC44A4, an ulcerative colitis susceptibility gene identified in a GWAS in north Indians.

In vivo sister chromatid exchanges in the euchromatin and constitutive heterochromatin of the Indian mole rat, Nesokia indica

Leads from xenobiotic metabolism genes for Parkinson’s disease among north Indians ⬇️

Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci

Low hygiene and exposure to infections may be associated with increased risk for ulcerative colitis in a North Indian population

Multiple rare inherited variants in a four generation schizophrenia family offer leads for complex mode of disease inheritance

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

Normative genetic profiles of RAAS pathway gene polymorphisms in North Indian and South Indian populations.

Novel, Replicated Associations Between Dopamine D3 Receptor Gene Polymorphisms and Schizophrenia in Two Independent Samples

Parkin mutations in familial and sporadic Parkinson's disease among Indians.

Pedigree Analysis of Familial Primary Concomitant Horizontal Strabismus in Northern India

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

Polymorphism of the p53 codon 72 Arg/Pro and the risk of HPV type 16/18-associated cervical and oral cancer in India.

Population and genomic lessons from genetic analysis of two Indian populations.

Possible role of rare variants in Trace amine associated receptor 1 in schizophrenia.

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

Random/nonrandom X-chromosome inactivation in Nesokia indica: possible influence of heterochromatin

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

Rare variant based evidence for oligogenic contribution of neurodevelopmental pathway genes to schizophrenia

Rare variants in Protein tyrosine phosphatase, receptor type A (PTPRA) in schizophrenia: Evidence from a family based study