Lista de obras - Maria Martinez - Dominio Público Uruguay

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

artículo científico publicado en 2012

Affected sib-pair tests for linkage: Type I errors with dependent sib-pairs

artículo científico publicado en 1997

Allelic association at the D14S43 locus in early onset Alzheimer's disease. French Alzheimer's Disease Collaborative Study Group

scientific article published on 01 April 1995

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

artículo científico publicado en 2013

Apolipoprotein E epsilon4 allele and familial aggregation of Alzheimer disease.

artículo científico publicado en 1998

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease

article

Association between tumor necrosis factor receptor II and familial, but not sporadic, rheumatoid arthritis: evidence for genetic heterogeneity

artículo científico publicado en 2002

Association of rheumatoid arthritis with an amino acid allelic variation of the T cell receptor

artículo científico publicado en 1997

Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD.

artículo científico publicado en 2011

Childhood/early adolescence-onset and adult-onset schizophrenia. Heterogeneity at the dopamine D3 receptor gene

scientific article published on 01 January 1997

Chromosome 5 and Parkinson disease

scholarly article by Tatiana Foroud et al published 31 May 2006 in European Journal of Human Genetics

Comparative study of statistical methods for detecting association with rare variants in exome-resequencing data ⬇️

artículo científico publicado el 29 de noviembre de 2011

Complex Segregation Analysis Accounting for GxE of Bone Mineral Density in European Pedigrees Selected Through a Male Proband with Low BMD

scientific article published on 01 January 2007

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

artículo científico publicado en 2012

Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease

artículo científico publicado en 2012

De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

artículo científico publicado en 1998

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

artículo científico publicado en 2015

Evidence for apolipoprotein E epsilon 4 association in early-onset Alzheimer's patients with late-onset relatives.

artículo científico publicado en 1995

Evidence for caveolin-1 as a new susceptibility gene regulating tissue fibrosis in systemic sclerosis

artículo científico publicado en 2012

Further evidence for anticipation in schizophrenia

artículo científico publicado en 1995

Further support for the association of GNPAT variant rs11558492 with severe iron overload in hemochromatosis

scientific article published on 30 October 2015

Genetic analysis of human breast cancer: Implications for family study designs

article

Genetic comorbidities in Parkinson's disease

artículo científico publicado en 2013

Genetic linkage mapping of the m4 human muscarinic receptor (CHRM4)

artículo científico publicado el 1 de mayo de 1992

Genetic mapping of the Gs-alpha subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis.

artículo científico publicado en 1991

Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus

artículo científico publicado en 2015

Genetics of Alzheimer's disease

artículo científico publicado en 1996

Genome-Wide Linkage Screen of Bone Mineral Density (BMD) in European Pedigrees Ascertained through a Male Relative with Low BMD Values: Evidence for Quantitative Trait Loci on 17q21–23, 11q12–13, 13q12–14, and 22q11

artículo científico publicado en 2008

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

artículo científico publicado en 2010

Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

artículo científico publicado en 1999

Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis

artículo científico publicado en 2011

Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease

artículo científico publicado en 2004

Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample

artículo científico publicado en 2006

Homozygosity at the dopamine D3 receptor locus is not associated with schizophrenia.

artículo científico publicado en 1994

How can maximum likelihood methods reveal candidate gene effects on a quantitative trait?

article

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

artículo científico publicado en 2011

Is a single mutation at the same locus responsible for all affected cases in a large Alzheimer pedigree (FAD4)?

artículo científico publicado en 1993

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

artículo científico publicado en 2014

Linkage detection by the Affected-Pedigree-Member method: what is really tested?

artículo científico publicado en 1993

Long-term stability of diagnosis and symptom dimensions in a systematic sample of patients with onset of schizophrenia in childhood and early adolescence. I: nosology, sex and age of onset.

artículo científico publicado en 1996

Long-term stability of diagnosis and symptom dimensions in a systematic sample of patients with onset of schizophrenia in childhood and early adolescence. II: Postnegative distinction and childhood predictors of adult outcome.

artículo científico publicado en 1996

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

artículo científico publicado en 2015

New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study.

scientific article published on September 1998

No effect of the alpha1-antichymotrypsin A allele in Alzheimer's disease

artículo científico publicado en 1997

No evidence for linkage or association between the dopamine transporter gene and schizophrenia in a French population

artículo científico publicado en 1995

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.

artículo científico publicado en 1996

No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics

artículo científico publicado en 2008

Noninherited maternal antigens do not play a role in rheumatoid arthritis susceptibility in Europe. European Consortium on Rheumatoid Arthritis Families

scientific article published on 01 April 2000

Performance of linkage analysis under misclassification error when the genetic model is unknown

article

Polymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophrenia

artículo científico publicado en 2004

Posterior probability of linkage and maximal lod score.

artículo científico publicado en 1995

Power of the linkage test for a heterogeneous disorder due to two independent inherited causes: a simulation study.

artículo científico publicado en 1990

Proceedings of the Genetic Analysis Workshop 13: analysis of longitudinal family data for complex diseases and related risk factors. November 11-14, 2002. New Orleans, Louisiana, USA

article

Pseudoautosomal region in schizophrenia: Linkage analysis of seven loci by sib-pair and lod-score methods

article

Regressive logistic models in linkage analysis of the cutaneous malignant melanoma-dysplastic nevus syndrome ⬇️

artículo científico publicado el 1 de enero de 1992

Sampling strategies for linkage studies.

artículo científico publicado en 1991

Segregation analysis of Alzheimer pedigrees: rare Mendelian dominant mutation(s) explain a minority of early-onset cases. French Alzheimer Collaborative Group.

artículo científico publicado en 1996

Serotonin transporter gene polymorphism and schizophrenia: an association study

artículo científico publicado en 1997

Single-marker and multi-marker mixed models for polygenic score analysis in family-based data

artículo científico publicado en 2014

Suggestive Evidence for a Schizophrenia Susceptibility Locus on Chromosome 6q and a Confirmation in an Independent Series of Pedigrees ⬇️

artículo científico publicado el 1 de julio de 1997

Summary of contributions to GAW Group 15: family-based samples are useful in identifying common polymorphisms associated with complex traits

artículo científico publicado en 2009

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

artículo científico publicado en 1999

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

artículo científico publicado en 2013

The p.Asp216His TOR1A allele effect is not found in the French population

artículo científico publicado en 2009

Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis.

artículo científico publicado en 2017

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities

artículo científico publicado en 2012

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

artículo científico publicado en 2012

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

artículo científico publicado en 2016

Lista de obras de Maria Martinez

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

Affected sib-pair tests for linkage: Type I errors with dependent sib-pairs

Allelic association at the D14S43 locus in early onset Alzheimer's disease. French Alzheimer's Disease Collaborative Study Group

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk

Apolipoprotein E epsilon4 allele and familial aggregation of Alzheimer disease.

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease

Association between tumor necrosis factor receptor II and familial, but not sporadic, rheumatoid arthritis: evidence for genetic heterogeneity

Association of rheumatoid arthritis with an amino acid allelic variation of the T cell receptor

Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD.

Childhood/early adolescence-onset and adult-onset schizophrenia. Heterogeneity at the dopamine D3 receptor gene

Chromosome 5 and Parkinson disease

Comparative study of statistical methods for detecting association with rare variants in exome-resequencing data ⬇️

Complex Segregation Analysis Accounting for GxE of Bone Mineral Density in European Pedigrees Selected Through a Male Proband with Low BMD

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease

De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

Evidence for apolipoprotein E epsilon 4 association in early-onset Alzheimer's patients with late-onset relatives.

Evidence for caveolin-1 as a new susceptibility gene regulating tissue fibrosis in systemic sclerosis

Further evidence for anticipation in schizophrenia

Further support for the association of GNPAT variant rs11558492 with severe iron overload in hemochromatosis

Genetic analysis of human breast cancer: Implications for family study designs

Genetic comorbidities in Parkinson's disease

Genetic linkage mapping of the m4 human muscarinic receptor (CHRM4)

Genetic mapping of the Gs-alpha subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis.

Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus

Genetics of Alzheimer's disease

Genome-Wide Linkage Screen of Bone Mineral Density (BMD) in European Pedigrees Ascertained through a Male Relative with Low BMD Values: Evidence for Quantitative Trait Loci on 17q21–23, 11q12–13, 13q12–14, and 22q11

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis

Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease

Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample

Homozygosity at the dopamine D3 receptor locus is not associated with schizophrenia.

How can maximum likelihood methods reveal candidate gene effects on a quantitative trait?

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

Is a single mutation at the same locus responsible for all affected cases in a large Alzheimer pedigree (FAD4)?

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

Linkage detection by the Affected-Pedigree-Member method: what is really tested?

Long-term stability of diagnosis and symptom dimensions in a systematic sample of patients with onset of schizophrenia in childhood and early adolescence. I: nosology, sex and age of onset.

Long-term stability of diagnosis and symptom dimensions in a systematic sample of patients with onset of schizophrenia in childhood and early adolescence. II: Postnegative distinction and childhood predictors of adult outcome.

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study.

No effect of the alpha1-antichymotrypsin A allele in Alzheimer's disease

No evidence for linkage or association between the dopamine transporter gene and schizophrenia in a French population

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.

No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics

Noninherited maternal antigens do not play a role in rheumatoid arthritis susceptibility in Europe. European Consortium on Rheumatoid Arthritis Families

Performance of linkage analysis under misclassification error when the genetic model is unknown

Polymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophrenia

Posterior probability of linkage and maximal lod score.

Power of the linkage test for a heterogeneous disorder due to two independent inherited causes: a simulation study.

Proceedings of the Genetic Analysis Workshop 13: analysis of longitudinal family data for complex diseases and related risk factors. November 11-14, 2002. New Orleans, Louisiana, USA

Pseudoautosomal region in schizophrenia: Linkage analysis of seven loci by sib-pair and lod-score methods

Regressive logistic models in linkage analysis of the cutaneous malignant melanoma-dysplastic nevus syndrome ⬇️

Sampling strategies for linkage studies.

Segregation analysis of Alzheimer pedigrees: rare Mendelian dominant mutation(s) explain a minority of early-onset cases. French Alzheimer Collaborative Group.

Serotonin transporter gene polymorphism and schizophrenia: an association study

Single-marker and multi-marker mixed models for polygenic score analysis in family-based data

Suggestive Evidence for a Schizophrenia Susceptibility Locus on Chromosome 6q and a Confirmation in an Independent Series of Pedigrees ⬇️

Summary of contributions to GAW Group 15: family-based samples are useful in identifying common polymorphisms associated with complex traits

The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

The p.Asp216His TOR1A allele effect is not found in the French population

Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis.

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases