Search filters

List of works by Mette Christiansen

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

scientific article published on 22 October 2015

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

scientific article published on 18 July 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.

scientific article

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

scientific article

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

scientific article published on 09 April 2020

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

scientific article

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

scientific article

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

scientific article published on 17 February 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

scientific article

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

scientific article published on 4 September 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.

scientific article published on 29 June 2016

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

scientific article published on 4 December 2017

Functional IRF3 deficiency in a patient with herpes simplex encephalitis.

scientific article

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

scientific article published on 01 January 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

scientific article published on 20 May 2019

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

scientific article

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

scientific article published on 29 October 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

scientific article published on November 6, 2010

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

scientific article published on 03 August 2019

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

scientific article published on 4 May 2018

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

scientific article published on 3 June 2016

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

scientific article published on 23 April 2010

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

scientific article published on 13 May 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

scientific article published on 13 October 2011

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

scientific article published on 13 June 2014

The Cockayne syndrome group B protein is a functional dimer.

scientific article published in September 2005

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

scientific article published on 24 March 2018

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

scientific article

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

scientific article published on 23 January 2018

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

scientific article published on 29 October 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.

scientific article published on 28 December 2017

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

scientific article published on 28 December 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

scientific article published in Scientific Reports

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

scientific article

XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome

scientific article published on 28 September 2016

Paulina is supported by:

About Paulina

Help