Lista de obras - Britt-Sabina Petersen - Dominio Público Uruguay

A candidate gene approach of the calcineurin pathway to identify variants associated with clinical outcomes in renal transplantation

artículo científico publicado en 2016

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

artículo científico publicado en 2014

Base-pair resolution DNA methylome of the EBV-positive Endemic Burkitt lymphoma cell line DAUDI determined by SOLiD bisulfite-sequencing.

artículo científico publicado en 2013

CEACAM1 regulates TIM-3-mediated tolerance and exhaustion

scientific journal article

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

artículo científico publicado en 2015

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

Corrigendum: CEACAM1 regulates TIM-3-mediated tolerance and exhaustion

artículo científico publicado en 2016

Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4

artículo científico publicado en 2015

Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway

artículo científico publicado en 2017

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease

artículo científico publicado en 2015

First known case of paediatric inflammatory bowel disease in a western lowland gorilla may be linked to a familial mutation in the MEFV gene

scientific article published on 21 June 2019

From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software

artículo científico publicado en 2012

Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive

artículo científico publicado en 2016

Genetic variability, differentiation, and founder effect in golden jackals (Canis aureus) from Serbia as revealed by mitochondrial DNA and nuclear microsatellite loci.

artículo científico publicado en 2009

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation

artículo científico publicado en 2016

Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease

artículo científico publicado en 2015

Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing

artículo científico publicado en 2012

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

artículo científico publicado en 2018

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

artículo científico publicado en 2017

Leptin induces TNFα-dependent inflammation in acquired generalized lipodystrophy and combined Crohn's disease

scientific article published on 10 December 2019

Long-term survival of patients with CLL after allogeneic transplantation: a report from the European Society for Blood and Marrow Transplantation.

artículo científico publicado en 2016

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

scientific article published on 01 February 2019

New insights into the genetics of glioblastoma multiforme by familial exome sequencing.

artículo científico publicado en 2015

Opportunities and challenges of whole-genome and -exome sequencing.

artículo científico publicado en 2017

Rare phenotypes in the understanding of autoimmunity

artículo científico publicado en 2016

Reduced FOXP3+ regulatory T cells in patients with primary sclerosing cholangitis are associated with IL2RA gene polymorphisms

article

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

scientific journal article

SETDB1 is required for intestinal epithelial differentiation and the prevention of intestinal inflammation

artículo científico publicado en 2020

Targeted Resequencing and Functional Testing Identifies Low-Frequency Missense Variants in the Gene Encoding GARP as Significant Contributors to Atopic Dermatitis Risk

artículo científico publicado en 2016

The TP53 Pro72Arg SNP in de novo acute myeloid leukaemia - results of two cohort studies involving 215 patients and 3759 controls

artículo científico publicado en 2017

The genetics of Crohn's disease and ulcerative colitis--status quo and beyond

artículo científico publicado en 2015

Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.

artículo científico publicado en 2014

XIAP variants in male Crohn's disease.

artículo científico publicado en 2014

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

artículo científico publicado en 2017

Lista de obras de Britt-Sabina Petersen

A candidate gene approach of the calcineurin pathway to identify variants associated with clinical outcomes in renal transplantation

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

Base-pair resolution DNA methylome of the EBV-positive Endemic Burkitt lymphoma cell line DAUDI determined by SOLiD bisulfite-sequencing.

CEACAM1 regulates TIM-3-mediated tolerance and exhaustion

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Corrigendum: CEACAM1 regulates TIM-3-mediated tolerance and exhaustion

Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4

Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease

First known case of paediatric inflammatory bowel disease in a western lowland gorilla may be linked to a familial mutation in the MEFV gene

From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software

Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive

Genetic variability, differentiation, and founder effect in golden jackals (Canis aureus) from Serbia as revealed by mitochondrial DNA and nuclear microsatellite loci.

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation

Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease

Improving mapping and SNP-calling performance in multiplexed targeted next-generation sequencing

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

Leptin induces TNFα-dependent inflammation in acquired generalized lipodystrophy and combined Crohn's disease

Long-term survival of patients with CLL after allogeneic transplantation: a report from the European Society for Blood and Marrow Transplantation.

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

New insights into the genetics of glioblastoma multiforme by familial exome sequencing.

Opportunities and challenges of whole-genome and -exome sequencing.

Rare phenotypes in the understanding of autoimmunity

Reduced FOXP3+ regulatory T cells in patients with primary sclerosing cholangitis are associated with IL2RA gene polymorphisms

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

SETDB1 is required for intestinal epithelial differentiation and the prevention of intestinal inflammation

Targeted Resequencing and Functional Testing Identifies Low-Frequency Missense Variants in the Gene Encoding GARP as Significant Contributors to Atopic Dermatitis Risk

The TP53 Pro72Arg SNP in de novo acute myeloid leukaemia - results of two cohort studies involving 215 patients and 3759 controls

The genetics of Crohn's disease and ulcerative colitis--status quo and beyond

Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.

XIAP variants in male Crohn's disease.

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia