Filtros de búsqueda

Lista de obras de Rajkumar Ramesar

A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure

article

A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora.

artículo científico publicado en 2015

A brain-behaviour initiative for South Africa: the time is right

artículo científico publicado en 2006

A case-control study of risk factors for colorectal cancer in an African population.

artículo científico publicado en 2018

A computer-based register for inherited retinal dystrophies in Southern Africa

artículo científico publicado en 2002

A genomic portrait of haplotype diversity and signatures of selection in indigenous southern African populations

artículo científico publicado en 2015

A linkage and family-based association analysis of a potential neurocognitive endophenotype of bipolar disorder

scholarly article by Jonathan Savitz et al published June 2007 in NeuroMolecular Medicine

A linkage and family-based association analysis of a potential neurocognitive endophenotype of bipolar disorder

artículo científico publicado en 2007

A mobile colonoscopic unit for lynch syndrome: trends in surveillance uptake and patient experiences of screening in a developing country.

artículo científico publicado en 2013

A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.

artículo científico publicado en 2014

A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis

artículo científico publicado en 2005

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum.

artículo científico publicado en 2001

A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences

artículo científico publicado en 1999

A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing.

artículo científico publicado en 2003

A review of systems biology research of anxiety disorders

scientific article published on 07 October 2020

A review of the optimisation of the use of formalin fixed paraffin embedded tissue for molecular analysis in a forensic post-mortem setting

artículo científico publicado en 2017

Advancing public health genomics in Africa through prospective cohort studies

artículo científico publicado en 2010

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q ⬇️

artículo científico publicado el 1 de agosto de 1995

Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications.

artículo científico publicado en 2003

Apolipoprotein E variants and cognition in healthy individuals: a critical opinion

artículo científico publicado en 2005

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

artículo científico publicado en 2004

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

artículo científico publicado en 2013

Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

artículo científico publicado en 2004

Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes

artículo científico publicado en 2006

Association between solar insolation and a history of suicide attempts in bipolar I disorder

artículo científico publicado en 2019

Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon

artículo científico publicado en 2014

Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint maps to an 11-cM region on chromosome 4q35.

artículo científico publicado en 1999

Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1

Beyond the Caster Semenya controversy: the case of the use of genetics for gender testing in sport.

artículo científico publicado en 2010

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

artículo científico publicado en 2002

Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of therapy.

artículo científico publicado en 2010

Cancer risk in a cohort of subjects carrying a single mismatch repair gene mutation

article

Capacity-building in human genetics for developing countries: initiatives and perspectives in sub-Saharan Africa

artículo científico publicado en 2010

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

artículo científico publicado en 2009

Catechol-o-methyltransferase genotype and childhood trauma may interact to impact schizotypal personality traits

artículo científico publicado en 2009

Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17.

artículo científico publicado en 2010

Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip.

artículo científico publicado en 2009

Coinheritance of sickle cell anemia and α-thalassemia delays disease onset and could improve survival in Cameroonian's patients (Sub-Saharan Africa).

artículo científico publicado en 2014

Communicating cancer risk within an African context: experiences, disclosure patterns and uptake rates following genetic testing for Lynch syndrome

artículo científico publicado en 2013

Computational analysis of candidate disease genes and variants for salt-sensitive hypertension in indigenous Southern Africans

artículo científico publicado en 2010

Concordance Of Genetic Variation That Increases Risk For Tourette Syndrome And That Influences Its Underlying Neurocircuitry

Concordance of genetic variation that increases risk for anxiety disorders and posttraumatic stress disorders and that influences their underlying neurocircuitry

artículo científico publicado en 2018

Concordance of genetic variation that increases risk for tourette syndrome and that influences its underlying neurocircuitry

artículo científico publicado en 2019

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

artículo científico publicado en 1998

DNA variants and organophosphate neurotoxicity among emerging farmers in the Western Cape of South Africa.

artículo científico publicado en 2017

Detecting Genetics Modifiers of Spondyloepimetaphyseal Dysplasia with Joint Laxity (SEMDJL) in the Caucasian Afrikaner community

article

Determining ancestry proportions in complex admixture scenarios in South Africa using a novel proxy ancestry selection method

artículo científico publicado en 2013

Dietary patterns and colorectal cancer risk in Zimbabwe: A population based case-control study

artículo científico publicado en 2018

Digitotalar dysmorphism: Molecular elucidation.

artículo científico

Direct-to-consumer genetic testing: to test or not to test, that is the question

artículo científico publicado en 2013

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

artículo científico publicado en 2001

Dravet syndrome in South African infants: Tools for an early diagnosis

artículo científico publicado en 2018

Dysthymic and anxiety-related personality traits in bipolar spectrum illness

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

artículo científico publicado en 2008

Erratum: South Africa: from species cradle to genomic applications

article

Ethical considerations in forensic genetics research on tissue samples collected post-mortem in Cape Town, South Africa.

artículo científico publicado en 2017

Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South african families

artículo científico publicado en 1997

Exploring researchers' experiences of working with a researcher-driven, population-specific community advisory board in a South African schizophrenia genomics study

artículo científico publicado en 2015

Fertility and apparent genetic anticipation in Lynch syndrome

artículo científico publicado en 2014

G-protein-coupled receptor kinase 4 polymorphisms predict blood pressure response to dietary modification in Black patients with mild-to-moderate hypertension

artículo científico publicado en 2011

GENETICS. The Human Variome Project

artículo científico publicado en 2008

GSTM1 and GSTT1 polymorphisms as modifiers of age at diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) in a homogeneous cohort of individuals carrying a single predisposing mutation

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

artículo científico publicado en 2000

Genetic studies of African populations: an overview on disease susceptibility and response to vaccines and therapeutics

artículo científico publicado en 2008

Genetic variants implicated in personality: a review of the more promising candidates

artículo científico publicado en 2004

Genetic variation at selected SNPs in the leptin gene and association of alleles with markers of kidney disease in a Xhosa population of South Africa.

artículo científico publicado en 2010

Genetic variation in Otos is associated with cisplatin-induced ototoxicity

artículo científico publicado en 2014

Genetic variation within GRIN2B in adolescents with alcohol use disorder may be associated with larger left posterior cingulate cortex volume.

artículo científico publicado en 2016

Genetics of schizophrenia in the South African Xhosa

artículo científico publicado en 2020

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa

artículo científico publicado en 2000

Genomics: African dawn

artículo científico publicado en 2014

Genotype and childhood sexual trauma moderate neurocognitive performance: a possible role for brain-derived neurotrophic factor and apolipoprotein E variants

artículo científico publicado en 2007

Glutamatergic and HPA-axis pathway genes in bipolar disorder comorbid with alcohol- and substance use disorders.

artículo científico publicado en 2015

Haplotype-based study of the association of alcohol and acetaldehyde-metabolising genes with alcohol dependence (with or without comorbid anxiety symptoms) in a Cape Mixed Ancestry population

artículo científico publicado en 2014

High prevalence of cisplatin-induced ototoxicity in Cape Town, South Africa

article

How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

artículo científico publicado en 2010

Human Leukocyte Antigen (HLA) Class II -DRB1 and -DQB1 Alleles and the Association with Cervical Cancer in HIV/HPV Co-Infected Women in South Africa

scientific article published on 20 May 2019

Human Variome Project country nodes: documenting genetic information within a country

artículo científico publicado en 2012

Hypomanic, cyclothymic and hostile personality traits in bipolar spectrum illness: a family-based study

artículo científico publicado en 2007

Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.

artículo científico publicado en 2015

Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort

artículo científico publicado en 2011

Immunohistochemistry detects mismatch repair gene defects in colorectal cancer

article

In a resource-poor country, mutation identification has the potential to reduce the cost of family management for hereditary nonpolyposis colorectal cancer

artículo científico publicado en 1998

Influence of birth cohort on age of onset cluster analysis in bipolar I disorder.

artículo científico publicado en 2014

Influence of light exposure during early life on the age of onset of bipolar disorder

artículo científico

Infrequent and low expression of cancer-testis antigens located on the X chromosome in colorectal cancer: implications for immunotherapy in South African populations

artículo científico publicado en 2008

Inherited retinal disorders in South Africa and the clinical impact of evolving technologies.

artículo científico

Lateralization of hand skill in bipolar affective disorder.

artículo científico publicado en 2007

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

artículo científico publicado en 2011

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

article

Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa

scientific article published on 01 July 2000

Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters.

artículo científico publicado en 2010

Management of a South African family with retinitis pigmentosa-should potential therapy influence translational research protocols?

artículo científico publicado en 2008

Minimum information required for a DMET experiment reporting

artículo científico

Mismatch repair deficiency in colorectal cancer patients in a low-incidence area

artículo científico publicado en 2013

Mobile colonoscopic surveillance provides quality care for hereditary nonpolyposis colorectal carcinoma families in South Africa

artículo científico publicado en 2007

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing

artículo científico publicado en 2016

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

artículo científico publicado en 2005

Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease

artículo científico publicado en 2004

Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.

artículo científico publicado en 1994

Neurocognitive function as an endophenotype for genetic studies of bipolar affective disorder

artículo científico publicado en 2005

Neuropsychological dysfunction in bipolar affective disorder: a critical opinion

artículo científico publicado en 2005

Neuropsychological status of bipolar I disorder: impact of psychosis

artículo científico publicado en 2009

Neuropsychological task performance in bipolar spectrum illness: genetics, alcohol abuse, medication and childhood trauma

artículo científico publicado en 2008

New-onset diabetes after transplant: Incidence, risk factors and outcome.

artículo científico publicado en 2017

No evidence of genetic anticipation in a large family with Lynch syndrome

artículo científico publicado en 2014

Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease

artículo científico publicado en 2003

Nucleotide sequence and expression of a cloned Thiobacillus ferrooxidans recA gene in Escherichia coli

artículo científico publicado en 1989

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

artículo científico publicado en 2015

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.

artículo científico publicado en 2017

PXR and CAR single nucleotide polymorphisms influence plasma efavirenz levels in South African HIV/AIDS patients

artículo científico publicado en 2012

Personality endophenotypes for bipolar affective disorder: a family-based genetic association analysis

artículo científico publicado en 2008

Personality: is it a viable endophenotype for genetic studies of bipolar affective disorder?

artículo científico publicado en 2006

Planning the human variome project: the Spain report.

artículo científico publicado en 2009

Polygenic risk for schizophrenia and associated brain structural changes: A systematic review

artículo científico publicado en 2018

Possible involvement of the circadian pathway in alcohol use disorder in a South African adolescent cohort.

artículo científico publicado en 2015

Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome

artículo científico publicado en 2013

Preliminary evidence for linkage to chromosome 1q31-32, 10q23.3, and 16p13.3 in a South African cohort with bipolar disorder

artículo científico publicado en 2007

Prioritization of candidate disease genes for metabolic syndrome by computational analysis of its defining phenotypes

artículo científico publicado en 2008

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

artículo científico publicado en 2010

Promoter region variation in NFE2L2 influences susceptibility to ototoxicity in patients exposed to high cumulative doses of cisplatin.

artículo científico publicado en 2016

Psychosocial burden of sickle cell disease on parents with an affected child in Cameroon

artículo científico

Psychosocial stressors of sickle cell disease on adult patients in Cameroon

artículo científico publicado en 2014

Ready to put metadata on the post-2015 development agenda? Linking data publications to responsible innovation and science diplomacy

artículo científico publicado en 2014

Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

artículo científico publicado en 2011

Recommendations of the 2006 Human Variome Project meeting

artículo científico publicado en 2007

Reconstructing Prehistoric African Population Structure

artículo científico publicado en 2017

Relationship between sunlight and the age of onset of bipolar disorder: an international multisite study

artículo científico publicado en 2014

Report on the 6th African Society of Human Genetics (AfSHG) Meeting, March 12-15, 2009, Yaounde, Cameroon

artículo científico publicado en 2010

Research capacity. Enabling the genomic revolution in Africa

artículo científico publicado en 2014

Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes

artículo científico publicado en 1997

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies NovelLCA5Mutations and New Genotype-Phenotype Correlations

Significant concordance of genetic variation that increases both the risk for obsessive-compulsive disorder and the volumes of the nucleus accumbens and putamen

artículo científico publicado en 2018

South Africa: from species cradle to genomic applications

article

Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families

artículo científico publicado en 2014

Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1).

artículo científico publicado en 1992

Stargardt disease: towards developing a model to predict phenotype.

artículo científico publicado en 2013

Stargardt disease: towards developing a model to predict phenotype.

artículo científico publicado en 2013

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene

artículo científico publicado en 1998

Surgery for colonic cancer in HNPCC: total vs segmental colectomy

artículo científico publicado en 2011

Surveillance colonoscopy improves survival in a cohort of subjects with a single mismatch repair gene mutation

artículo científico publicado en 2009

The BDNF p.Val66Met polymorphism, childhood trauma, and brain volumes in adolescents with alcohol abuse

artículo científico publicado en 2014

The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival

artículo científico publicado en 2014

The extracolonic cancer spectrum in females with the common 'South African' hMLH1 c.C1528T mutation

artículo científico publicado en 2007

The hereditary adult-onset ataxias in South Africa

artículo científico publicado en 2003

The importance of G protein-coupled receptor kinase 4 (GRK4) in pathogenesis of salt sensitivity, salt sensitive hypertension and response to antihypertensive treatment ⬇️

artículo científico publicado en 2015

The incidence and histo-pathological characteristics of colorectal cancer in a population based cancer registry in Zimbabwe.

artículo científico publicado en 2016

The relationship between childhood abuse and dissociation. Is it influenced by catechol-O-methyltransferase (COMT) activity?

artículo científico publicado en 2007

The shifting epidemiology of colorectal cancer in sub-Saharan Africa

artículo científico publicado en 2017

The value of genetic testing for inherited retinal disease caused by mutations in the ABCA4 gene in South Africans.

artículo científico publicado en 2013

Toward a Global Roadmap for Precision Medicine in Psychiatry: Challenges and Opportunities.

artículo científico publicado en 2016

Toward colorectal cancer control in Africa

artículo científico publicado en 2015

Trends in suicidology: personality as an endophenotype for molecular genetic investigations

artículo científico publicado en 2006

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

artículo científico publicado en 2017

Whole-genome sequencing for an enhanced understanding of genetic variation among South Africans.

artículo científico publicado en 2017

Would you terminate a pregnancy affected by sickle cell disease? Analysis of views of patients in Cameroon

artículo científico publicado en 2013

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

artículo científico publicado en 1999

Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family

artículo científico publicado en 1997

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda