Lista de obras - Peter L Nagy - Dominio Público Uruguay

2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster

artículo científico publicado en 2012

A case study of an integrative genomic and experimental therapeutic approach for rare tumors: identification of vulnerabilities in a pediatric poorly differentiated carcinoma.

artículo científico publicado en 2016

A histone H3K9M mutation traps histone methyltransferase Clr4 to prevent heterochromatin spreading

artículo científico publicado en 2016

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder

artículo científico publicado en 2016

Analysis of the ABCA4 genomic locus in Stargardt disease

artículo científico publicado en 2014

Axonally synthesized ATF4 transmits a neurodegenerative signal across brain regions.

artículo científico publicado en 2014

Brain-Derived Neurotrophic Factor Elevates Activating Transcription Factor 4 (ATF4) in Neurons and Promotes ATF4-Dependent Induction of Sesn2.

artículo científico publicado en 2018

C9ORF72 repeat expansions not detected in a group of patients with schizophrenia ⬇️

artículo científico publicado el 1 de octubre de 2012

Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma.

artículo científico publicado en 2015

Clinical Implementation of Genomic Sequencing in Pediatric Oncology: Identification and Valuation of Resources and Costs Associated with Next-Generation Sequencing

artículo científico publicado en 2014

Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder

scientific article published on 28 August 2018

Cognitive-behavioral screening reveals prevalent impairment in a large multicenter ALS cohort.

artículo científico publicado en 2016

Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation

artículo científico publicado en 2013

DNA-like class R inhibitory oligonucleotides (INH-ODNs) preferentially block autoantigen-induced B-cell and dendritic cell activation in vitro and autoantibody production in lupus-prone MRL-Fas(lpr/lpr) mice in vivo

artículo científico publicado en 2009

Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third

artículo científico publicado en 2020

Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis ⬇️

artículo científico publicado el 14 de septiembre de 2010

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

artículo científico publicado en 2015

Identification of the Bacillus subtilis pur operon repressor ⬇️

artículo científico publicado el 1 de agosto de 1995

Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations

artículo científico publicado en 2016

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant

artículo científico publicado en 2018

Isoform-level brain expression profiling of the spermidine/spermine N1-Acetyltransferase1 (SAT1) gene in major depression and suicide

artículo científico publicado en 2015

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine.

artículo científico publicado en 2011

LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle

artículo científico publicado en 2011

Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1

artículo científico publicado en 2002

Next-Generation Sequencing and Mutational Analysis: Implications for Genes Encoding LINC Complex Proteins

artículo científico publicado en 2018

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency

artículo científico publicado en 2014

The Glc7 phosphatase subunit of the cleavage and polyadenylation factor is essential for transcription termination on snoRNA genes.

artículo científico publicado en 2008

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

artículo científico publicado en 2019

The proper splicing of RNAi factors is critical for pericentric heterochromatin assembly in fission yeast

artículo científico publicado en 2014

The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations.

artículo científico publicado en 2015

Tls1 regulates splicing of shelterin components to control telomeric heterochromatin assembly and telomere length.

artículo científico publicado en 2014

Two genes for de novo purine nucleotide synthesis on human chromosome 4 are closely linked and divergently transcribed

artículo científico publicado en 1994

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

artículo científico publicado en 2016

Lista de obras de Peter L Nagy

2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster

A case study of an integrative genomic and experimental therapeutic approach for rare tumors: identification of vulnerabilities in a pediatric poorly differentiated carcinoma.

A histone H3K9M mutation traps histone methyltransferase Clr4 to prevent heterochromatin spreading

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder

Analysis of the ABCA4 genomic locus in Stargardt disease

Axonally synthesized ATF4 transmits a neurodegenerative signal across brain regions.

Brain-Derived Neurotrophic Factor Elevates Activating Transcription Factor 4 (ATF4) in Neurons and Promotes ATF4-Dependent Induction of Sesn2.

C9ORF72 repeat expansions not detected in a group of patients with schizophrenia ⬇️

Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma.

Clinical Implementation of Genomic Sequencing in Pediatric Oncology: Identification and Valuation of Resources and Costs Associated with Next-Generation Sequencing

Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder

Cognitive-behavioral screening reveals prevalent impairment in a large multicenter ALS cohort.

Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation

DNA-like class R inhibitory oligonucleotides (INH-ODNs) preferentially block autoantigen-induced B-cell and dendritic cell activation in vitro and autoantibody production in lupus-prone MRL-Fas(lpr/lpr) mice in vivo

Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third

Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis ⬇️

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Identification of the Bacillus subtilis pur operon repressor ⬇️

Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant

Isoform-level brain expression profiling of the spermidine/spermine N1-Acetyltransferase1 (SAT1) gene in major depression and suicide

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine.

LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle

Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1

Next-Generation Sequencing and Mutational Analysis: Implications for Genes Encoding LINC Complex Proteins

Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency

The Glc7 phosphatase subunit of the cleavage and polyadenylation factor is essential for transcription termination on snoRNA genes.

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

The proper splicing of RNAi factors is critical for pericentric heterochromatin assembly in fission yeast

The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations.

Tls1 regulates splicing of shelterin components to control telomeric heterochromatin assembly and telomere length.

Two genes for de novo purine nucleotide synthesis on human chromosome 4 are closely linked and divergently transcribed

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.