Lista de obras - Alex S Nord - Dominio Público Uruguay

52 Genetic Loci Influencing Myocardial Mass

artículo científico publicado en 2016

A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk

artículo científico publicado en 2008

A high-resolution enhancer atlas of the developing telencephalon

artículo científico publicado en 2013

A public gene trap resource for mouse functional genomics

artículo científico publicado en 2004

Accurate and exact CNV identification from targeted high-throughput sequence data

artículo científico publicado en 2011

Apolipoprotein E genotype modifies the risk of behavior problems after infant cardiac surgery

artículo científico publicado en 2009

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing

artículo científico publicado en 2012

Comparison of tagging single-nucleotide polymorphism methods in association analyses

artículo científico publicado en 2007

Congenital heart defects in patients with deletions upstream of SOX9.

artículo científico publicado en 2013

Copy Number Variant Detection Using Next-Generation Sequencing

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

artículo científico publicado en 2010

Fine tuning of craniofacial morphology by distant-acting enhancers

artículo científico publicado en 2013

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

artículo científico publicado en 2009

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia

scientific article published on October 2013

Function-based identification of mammalian enhancers using site-specific integration

artículo científico publicado en 2014

Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot

artículo científico publicado en 2008

Genetic variation in LPAL2, LPA, and PLG predicts plasma lipoprotein(a) level and carotid artery disease risk

artículo científico publicado en 2010

Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q

artículo científico publicado en 2009

Genomic Views of Transcriptional Enhancers: Essential Determinants of Cellular Identity and Activity-Dependent Responses in the CNS

artículo científico publicado en 2015

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

artículo científico publicado en 2010

Genomic perspectives of transcriptional regulation in forebrain development

artículo científico publicado en 2015

Germline Chd8 haploinsufficiency alters brain development in mouse.

artículo científico publicado en 2017

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas

artículo científico publicado en 2014

Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy?

artículo científico publicado en 2010

Learning about mammalian gene regulation from functional enhancer assays in the mouse

artículo científico

Modeling insertional mutagenesis using gene length and expression in murine embryonic stem cells

artículo científico publicado en 2007

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

artículo científico publicado en 2011

Neurobiological functions of transcriptional enhancers

artículo científico publicado en 2019

Neurodevelopmental outcomes after staged palliation for hypoplastic left heart syndrome

artículo científico publicado en 2008

Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery

artículo científico publicado en 2007

Pbx Regulates Patterning of the Cerebral Cortex in Progenitors and Postmitotic Neurons

artículo científico publicado en 2015

Perioperative stroke in infants undergoing open heart operations for congenital heart disease

artículo científico publicado en 2009

Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation

artículo científico publicado en 2008

Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery

artículo científico publicado en 2009

Rapid and pervasive changes in genome-wide enhancer usage during mammalian development

scientific article published on December 2013

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

artículo científico publicado en 2008

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

artículo científico publicado en 2011

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

artículo científico publicado en 2016

Subpallial Enhancer Transgenic Lines: a Data and Tool Resource to Study Transcriptional Regulation of GABAergic Cell Fate.

artículo científico publicado en 2016

TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects

artículo científico publicado en 2006

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

artículo científico publicado en 2013

The International Gene Trap Consortium Website: a portal to all publicly available gene trap cell lines in mouse

artículo científico publicado en 2006

Tissue-specific RNA expression marks distant-acting developmental enhancers

artículo científico publicado en 2014

Tissue-specific SMARCA4 binding at active and repressed regulatory elements during embryogenesis

artículo científico publicado en 2014

Transcriptional Networks Controlled by NKX2-1 in the Development of Forebrain GABAergic Neurons

artículo científico publicado en 2016

Transcriptional regulation of enhancers active in protodomains of the developing cerebral cortex

artículo científico publicado en 2014

Lista de obras de Alex S Nord

52 Genetic Loci Influencing Myocardial Mass

A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk

A high-resolution enhancer atlas of the developing telencephalon

A public gene trap resource for mouse functional genomics

Accurate and exact CNV identification from targeted high-throughput sequence data

Apolipoprotein E genotype modifies the risk of behavior problems after infant cardiac surgery

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing

Comparison of tagging single-nucleotide polymorphism methods in association analyses

Congenital heart defects in patients with deletions upstream of SOX9.

Copy Number Variant Detection Using Next-Generation Sequencing

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Fine tuning of craniofacial morphology by distant-acting enhancers

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia

Function-based identification of mammalian enhancers using site-specific integration

Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot

Genetic variation in LPAL2, LPA, and PLG predicts plasma lipoprotein(a) level and carotid artery disease risk

Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q

Genomic Views of Transcriptional Enhancers: Essential Determinants of Cellular Identity and Activity-Dependent Responses in the CNS

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

Genomic perspectives of transcriptional regulation in forebrain development

Germline Chd8 haploinsufficiency alters brain development in mouse.

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas

Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy?

Learning about mammalian gene regulation from functional enhancer assays in the mouse

Modeling insertional mutagenesis using gene length and expression in murine embryonic stem cells

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

Neurobiological functions of transcriptional enhancers

Neurodevelopmental outcomes after staged palliation for hypoplastic left heart syndrome

Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery

Pbx Regulates Patterning of the Cerebral Cortex in Progenitors and Postmitotic Neurons

Perioperative stroke in infants undergoing open heart operations for congenital heart disease

Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation

Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery

Rapid and pervasive changes in genome-wide enhancer usage during mammalian development

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Subpallial Enhancer Transgenic Lines: a Data and Tool Resource to Study Transcriptional Regulation of GABAergic Cell Fate.

TagSNP evaluation for the association of 42 inflammation loci and vascular disease: evidence of IL6, FGB, ALOX5, NFKBIA, and IL4R loci effects

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

The International Gene Trap Consortium Website: a portal to all publicly available gene trap cell lines in mouse

Tissue-specific RNA expression marks distant-acting developmental enhancers

Tissue-specific SMARCA4 binding at active and repressed regulatory elements during embryogenesis

Transcriptional Networks Controlled by NKX2-1 in the Development of Forebrain GABAergic Neurons

Transcriptional regulation of enhancers active in protodomains of the developing cerebral cortex