Lista de obras - Mette Christiansen - Dominio Público Uruguay

A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

artículo científico publicado en 2015

Assessing a single targeted next generation sequencing for human leukocyte antigen typing protocol for interoperability, as performed by users with variable experience.

artículo científico publicado en 2017

Autoinflammatory disease with corneal and mucosal dyskeratosis caused by a novel NLRP1 variant

scientific article published on 24 December 2019

Autosomal Dominant Hyper-IgE Syndrome Without Significantly Elevated IgE

scientific article published on 29 August 2019

CBFA1 and topoisomerase I mRNA levels decline during cellular aging of human trabecular osteoblasts.

artículo científico publicado en 2000

Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus: A case report

artículo científico publicado en 2016

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

artículo científico publicado en 2020

Cockayne syndrome group B protein is engaged in processing of DNA adducts of lipid peroxidation product trans-4-hydroxy-2-nonenal

artículo científico publicado en 2009

Cooperation of the Cockayne syndrome group B protein and poly(ADP-ribose) polymerase 1 in the response to oxidative stress.

artículo científico publicado en 2005

Defective RNA sensing by RIG-I in severe influenza virus infection

artículo científico publicado en 2018

Defective interferon priming and impaired antiviral responses in a patient with an IRF7 variant and severe influenza

scientific article published on 06 June 2019

Defects in <i>LC3B2</i> and <i>ATG4A</i> underlie HSV2 meningitis and reveal a critical role for autophagy in antiviral defense in humans

scientific article published on 01 December 2020

Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells

artículo científico publicado en 2002

Discovery of a novel HLA-B15 allele, HLA-B15:379, in a patient from Guinea-Bissau.

artículo científico publicado en 2016

Discriminatory rapid tests cause HIV-type misclassification-evaluation of three rapid tests using clinical samples from Guinea-Bissau

scientific article published on 04 June 2019

Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO.

artículo científico publicado en 2016

Frequently used bioinformatics tools overestimate the damaging effect of allelic variants.

artículo científico publicado en 2017

Functional IRF3 deficiency in a patient with herpes simplex encephalitis.

artículo científico publicado en 2015

Gene-specific DNA repair of pyrimidine dimers does not decline during cellular aging in vitro

scientific article published on 01 April 2000

HLA-DQB1*06:276, a novel HLA allele fund in a patient from Guinea-Bissau

scientific article published on 29 January 2019

HTLV infected individuals have increased B-cell activation and proinflammatory regulatory T-cells

scientific article published on 29 November 2019

Host Genetics, Innate Immune Responses, and Cellular Death Pathways in Poliomyelitis Patients

scientific article published on 09 July 2019

Identification of Novel Genetic Variants in CVID Patients With Autoimmunity, Autoinflammation, or Malignancy

artículo científico publicado en 2019

Identification of an IRF3 variant and defective antiviral interferon responses in a patient with severe influenza

scientific article published on 01 November 2019

Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC

artículo científico publicado en 2019

Mutations in RNA Polymerase III genes and defective DNA sensing in adults with varicella-zoster virus CNS infection.

artículo científico publicado en 2018

Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis

artículo científico publicado en 2015

Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3

scientific article published on 26 September 2015

Novel STAT1 alleles in a patient with impaired resistance to mycobacteria

artículo científico publicado el 6 de noviembre de 2010

Pattern Recognition Molecules of the Lectin Pathway-Screening of Patients with Suspected Immunodeficiency

artículo científico publicado en 2019

Phylogeny of human T-lymphotropic virus-1 subtypes in Guinea-Bissau.

artículo científico publicado en 2018

Protein a Immunoadsorption May Hamper the Decision to Transplant Due to Interference With CDC Crossmatch Results.

artículo científico publicado en 2016

RHD positive among C/E+ and D- blood donors in Denmark.

artículo científico publicado en 2010

Rapid Whole-Genome Sequencing of Mycobacterium tuberculosis Isolates Directly from Clinical Samples

artículo científico publicado en 2015

Report of the first nationally implemented clinical routine screening for fetal RHD in D- pregnant women to ascertain the requirement for antenatal RhD prophylaxis

artículo científico publicado en 2011

Routine noninvasive prenatal screening for fetal RHD in plasma of RhD-negative pregnant women-2 years of screening experience from Denmark.

artículo científico publicado en 2014

The Cockayne syndrome group B protein is a functional dimer.

artículo científico publicado en 2005

The challenge of discriminating between HIV-1, HIV-2 and HIV-1/2 dual infections.

artículo científico publicado en 2018

The genetic component of preeclampsia: A whole-exome sequencing study.

artículo científico publicado en 2018

The influence of HLA-types on disease progression among HIV-2 infected patients in Guinea-Bissau

artículo científico publicado en 2018

Two novel HLA-B alleles, HLA-B53:01:17 and -B58:83, found in patients from Guinea-Bissau

artículo científico publicado en 2018

Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins

article

Vox Sanguinis International Forum on application of fetal blood grouping.

artículo científico publicado en 2017

Vox Sanguinis International Forum on application of fetal blood grouping: summary.

artículo científico publicado en 2017

Vox Sanguinis International forum on the selection and preparation of blood components for intrauterine transfusion

scientific article published on 12 May 2020

Whole Exome Sequencing of HIV-1 long-term non-progressors identifies rare variants in genes encoding innate immune sensors and signaling molecules

artículo científico publicado en 2018

Whole-genome enrichment and sequencing of Chlamydia trachomatis directly from clinical samples

artículo científico publicado en 2014

XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome

artículo científico publicado en 2016

Lista de obras de Mette Christiansen

A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

Assessing a single targeted next generation sequencing for human leukocyte antigen typing protocol for interoperability, as performed by users with variable experience.

Autoinflammatory disease with corneal and mucosal dyskeratosis caused by a novel NLRP1 variant

Autosomal Dominant Hyper-IgE Syndrome Without Significantly Elevated IgE

CBFA1 and topoisomerase I mRNA levels decline during cellular aging of human trabecular osteoblasts.

Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus: A case report

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Cockayne syndrome group B protein is engaged in processing of DNA adducts of lipid peroxidation product trans-4-hydroxy-2-nonenal

Cooperation of the Cockayne syndrome group B protein and poly(ADP-ribose) polymerase 1 in the response to oxidative stress.

Defective RNA sensing by RIG-I in severe influenza virus infection

Defective interferon priming and impaired antiviral responses in a patient with an IRF7 variant and severe influenza

Defects in <i>LC3B2</i> and <i>ATG4A</i> underlie HSV2 meningitis and reveal a critical role for autophagy in antiviral defense in humans

Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells

Discovery of a novel HLA-B*15 allele, HLA-B*15:379, in a patient from Guinea-Bissau.

Discriminatory rapid tests cause HIV-type misclassification-evaluation of three rapid tests using clinical samples from Guinea-Bissau

Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO.

Frequently used bioinformatics tools overestimate the damaging effect of allelic variants.

Functional IRF3 deficiency in a patient with herpes simplex encephalitis.

Gene-specific DNA repair of pyrimidine dimers does not decline during cellular aging in vitro

HLA-DQB1*06:276, a novel HLA allele fund in a patient from Guinea-Bissau

HTLV infected individuals have increased B-cell activation and proinflammatory regulatory T-cells

Host Genetics, Innate Immune Responses, and Cellular Death Pathways in Poliomyelitis Patients

Identification of Novel Genetic Variants in CVID Patients With Autoimmunity, Autoinflammation, or Malignancy

Identification of an IRF3 variant and defective antiviral interferon responses in a patient with severe influenza

Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC

Mutations in RNA Polymerase III genes and defective DNA sensing in adults with varicella-zoster virus CNS infection.

Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis

Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3

Novel STAT1 alleles in a patient with impaired resistance to mycobacteria

Pattern Recognition Molecules of the Lectin Pathway-Screening of Patients with Suspected Immunodeficiency

Phylogeny of human T-lymphotropic virus-1 subtypes in Guinea-Bissau.

Protein a Immunoadsorption May Hamper the Decision to Transplant Due to Interference With CDC Crossmatch Results.

RHD positive among C/E+ and D- blood donors in Denmark.

Rapid Whole-Genome Sequencing of Mycobacterium tuberculosis Isolates Directly from Clinical Samples

Report of the first nationally implemented clinical routine screening for fetal RHD in D- pregnant women to ascertain the requirement for antenatal RhD prophylaxis

Routine noninvasive prenatal screening for fetal RHD in plasma of RhD-negative pregnant women-2 years of screening experience from Denmark.

The Cockayne syndrome group B protein is a functional dimer.

The challenge of discriminating between HIV-1, HIV-2 and HIV-1/2 dual infections.

The genetic component of preeclampsia: A whole-exome sequencing study.

The influence of HLA-types on disease progression among HIV-2 infected patients in Guinea-Bissau

Two novel HLA-B alleles, HLA-B*53:01:17 and -B*58:83, found in patients from Guinea-Bissau

Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins

Vox Sanguinis International Forum on application of fetal blood grouping.

Vox Sanguinis International Forum on application of fetal blood grouping: summary.

Vox Sanguinis International forum on the selection and preparation of blood components for intrauterine transfusion

Whole Exome Sequencing of HIV-1 long-term non-progressors identifies rare variants in genes encoding innate immune sensors and signaling molecules

Whole-genome enrichment and sequencing of Chlamydia trachomatis directly from clinical samples

XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome

Discovery of a novel HLA-B15 allele, HLA-B15:379, in a patient from Guinea-Bissau.

Two novel HLA-B alleles, HLA-B53:01:17 and -B58:83, found in patients from Guinea-Bissau