Lista de obras - Janine A Lamb - Dominio Público Uruguay

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

artículo científico publicado en 2011

A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia

artículo científico publicado en 1999

A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12

artículo científico publicado en 2009

Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.

artículo científico publicado en 2005

Analysis of human total antibody repertoires in TIF1γ autoantibody positive dermatomyositis

artículo científico publicado en 2021

Antibodies against immunogenic epitopes with high sequence identity to SARS-CoV-2 in patients with autoimmune dermatomyositis

artículo científico publicado en 2020

Autism: the quest for the genes

artículo científico publicado en 2007

Bias in microRNA functional enrichment analysis

artículo científico publicado en 2015

Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT

artículo científico publicado en 2005

Comment on: The temporal relationship between cancer and adult onset anti-transcriptional intermediary factor 1 antibody-positive dermatomyositis: Reply

scientific article published on 01 November 2019

Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis.

artículo científico publicado en 2017

Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups

artículo científico publicado en 2015

Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases

artículo científico publicado en 2015

Entering a new phase of immunogenetics in the idiopathic inflammatory myopathies.

artículo científico publicado en 2013

Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups

scientific article published on 28 May 2019

Functional impact of global rare copy number variation in autism spectrum disorders

artículo científico publicado en 2010

Genetic background may contribute to the latitude-dependent prevalence of dermatomyositis and anti-TIF1-γ autoantibodies in adult patients with myositis.

artículo científico publicado en 2018

Genetic susceptibility to keloid scarring: SMAD gene SNP frequencies in Afro-Caribbeans.

artículo científico publicado en 2008

Genetics in inclusion body myositis.

artículo científico publicado en 2017

Genome-wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A, and Identification of ZBTB10 and Three Distinct HLA Associations

artículo científico publicado en 2015

Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes.

artículo científico publicado en 2015

Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders

artículo científico publicado en 2013

Genotyping of immune-related genetic variants identifies TYK2 as a novel associated locus for idiopathic inflammatory myopathies.

artículo científico publicado en 2014

Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum

artículo científico publicado en 2017

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Investigation of myositis and scleroderma specific autoantibodies in patients with lung cancer

MET and autism susceptibility: family and case-control studies

artículo científico publicado en 2008

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

artículo científico publicado en 2007

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.

artículo científico publicado en 2009

Microbial and autoantibody immunogenic repertoires in TIF1γ autoantibody positive dermatomyositis

artículo científico publicado en 2020

Molecular findings from 537 individuals with inherited retinal disease.

artículo científico publicado en 2016

Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

artículo científico publicado en 2005

New developments in genetics of myositis.

artículo científico publicado en 2016

Patient-centred standards of care for adults with myositis

scientific article published on 28 November 2017

Pulmonary effects of type V cyclic GMP specific phosphodiesterase inhibition in the anaesthetized guinea-pig.

artículo científico publicado en 1994

Recent advances in the immunogenetics of idiopathic inflammatory myopathy.

artículo científico publicado en 2011

Relaxation of guinea-pig trachea by cyclic AMP phosphodiesterase inhibitors and their enhancement by sodium nitroprusside.

artículo científico publicado en 1994

Response to paper by Molloy et al.: linkage on 21q and 7q in autism subset with regression.

artículo científico publicado en 2006

Response to: 'Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria' by Cavagna et al.

artículo científico publicado en 2017

Response to: 'Similarities and differences between severe COVID-19 pneumonia and anti-MDA-5 positive dermatomyositis associated rapidly progressive interstitial lung diseases: a challenge for the future' by Wang et al

scientific article published on 05 August 2020

Risk factors and disease mechanisms in myositis.

artículo científico publicado en 2018

Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis

artículo científico publicado en 2018

Strategies for evaluating idiopathic inflammatory myopathy disease susceptibility genes

artículo científico

Systematic protein-protein interaction and pathway analyses in the idiopathic inflammatory myopathies

artículo científico publicado en 2016

The EuroMyositis registry: an international collaborative tool to facilitate myositis research.

artículo científico

The protein tyrosine phosphatase N22 gene is associated with juvenile and adult idiopathic inflammatory myopathy independent of the HLA 8.1 haplotype in British Caucasian patients

artículo científico publicado en 2008

The role of microRNAs in the idiopathic inflammatory myopathies.

artículo científico publicado en 2015

The temporal relationship between cancer and adult onset anti-transcriptional intermediary factor 1 antibody-positive dermatomyositis

scientific article published on 01 April 2019

Translational Medicine: Insights from Interdisciplinary Graduate Research Training

scientific article published on 31 December 2018

Validation of copy number variation analysis for next-generation sequencing diagnostics

artículo científico publicado en 2017

Variations in inflammation-related genes may be associated with childhood febrile seizure susceptibility

article

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

artículo científico publicado en 2016

Lista de obras de Janine A Lamb

A genome-wide scan for common alleles affecting risk for autism

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia

A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12

Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.

Analysis of human total antibody repertoires in TIF1γ autoantibody positive dermatomyositis

Antibodies against immunogenic epitopes with high sequence identity to SARS-CoV-2 in patients with autoimmune dermatomyositis

Autism: the quest for the genes

Bias in microRNA functional enrichment analysis

Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT

Comment on: The temporal relationship between cancer and adult onset anti-transcriptional intermediary factor 1 antibody-positive dermatomyositis: Reply

Cytosolic 5'-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis.

Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups

Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases

Entering a new phase of immunogenetics in the idiopathic inflammatory myopathies.

Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups

Functional impact of global rare copy number variation in autism spectrum disorders

Genetic background may contribute to the latitude-dependent prevalence of dermatomyositis and anti-TIF1-γ autoantibodies in adult patients with myositis.

Genetic susceptibility to keloid scarring: SMAD gene SNP frequencies in Afro-Caribbeans.

Genetics in inclusion body myositis.

Genome-wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A, and Identification of ZBTB10 and Three Distinct HLA Associations

Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes.

Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders

Genotyping of immune-related genetic variants identifies TYK2 as a novel associated locus for idiopathic inflammatory myopathies.

Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum

Individual common variants exert weak effects on the risk for autism spectrum disorders

Investigation of myositis and scleroderma specific autoantibodies in patients with lung cancer

MET and autism susceptibility: family and case-control studies

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.

Microbial and autoantibody immunogenic repertoires in TIF1γ autoantibody positive dermatomyositis

Molecular findings from 537 individuals with inherited retinal disease.

Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

New developments in genetics of myositis.

Patient-centred standards of care for adults with myositis

Pulmonary effects of type V cyclic GMP specific phosphodiesterase inhibition in the anaesthetized guinea-pig.

Recent advances in the immunogenetics of idiopathic inflammatory myopathy.

Relaxation of guinea-pig trachea by cyclic AMP phosphodiesterase inhibitors and their enhancement by sodium nitroprusside.

Response to paper by Molloy et al.: linkage on 21q and 7q in autism subset with regression.

Response to: 'Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria' by Cavagna et al.

Response to: 'Similarities and differences between severe COVID-19 pneumonia and anti-MDA-5 positive dermatomyositis associated rapidly progressive interstitial lung diseases: a challenge for the future' by Wang et al

Risk factors and disease mechanisms in myositis.

Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis

Strategies for evaluating idiopathic inflammatory myopathy disease susceptibility genes

Systematic protein-protein interaction and pathway analyses in the idiopathic inflammatory myopathies

The EuroMyositis registry: an international collaborative tool to facilitate myositis research.

The protein tyrosine phosphatase N22 gene is associated with juvenile and adult idiopathic inflammatory myopathy independent of the HLA 8.1 haplotype in British Caucasian patients

The role of microRNAs in the idiopathic inflammatory myopathies.

The temporal relationship between cancer and adult onset anti-transcriptional intermediary factor 1 antibody-positive dermatomyositis

Translational Medicine: Insights from Interdisciplinary Graduate Research Training

Validation of copy number variation analysis for next-generation sequencing diagnostics

Variations in inflammation-related genes may be associated with childhood febrile seizure susceptibility

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.