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List of works by Uffe Birk Jensen

A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing

scientific article published on 24 December 2010

A distinct population of clonogenic and multipotent murine follicular keratinocytes residing in the upper isthmus.

scientific article

A new technique for accelerated liver regeneration: An experimental study in rats

scientific article published on 10 April 2017

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology

scientific article

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

scientific article

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

Binding between the integrin alphaXbeta2 (CD11c/CD18) and heparin

scientific article

Body mass index and mortality over 3 decades

article by Shoaib Afzal et al published September 2016 in Atherosclerosis

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

scientific article published on 11 January 2022

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male.

scientific article published on 29 January 2009

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

scientific article published on 19 July 2011

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 02 July 2020

Charcot-Marie-Tooth disease in Denmark: a nationwide register-based study of mortality, prevalence and incidence

scientific article published on 3 November 2017

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies

article

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

article

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article published on 2 November 2011

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 20 February 2012

Constitutive transgene expression of Stem Cell Antigen-1 in the hair follicle alters the sensitivity to tumor formation and progression

scientific article published on 8 July 2017

Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391].

scientific article published on 8 January 2018

Current status of treating neurodegenerative disease with induced pluripotent stem cells

scientific article

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Danish retinoblastoma patients 1943-2013 - genetic testing and clinical implications.

scientific article published on 23 October 2015

Dataset on gene expression profiling of multiple murine hair follicle populations

scientific article published on 05 September 2016

Deleterious mis-splicing of STK11 caused by a novel single-nucleotide substitution in the 3' polypyrimidine tract of intron five

scientific article published on 23 June 2020

Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex.

scientific article published in March 2017

Dietary glycemic index, glycemic load, insulin index, fiber and whole-grain intake in relation to risk of prostate cancer

scientific article

Difficulties in diagnosing Marfan syndrome using current FBN1 databases

scientific article published on 26 March 2015

Enforced expression of PPP1R13L increases tumorigenesis and invasion through p53-dependent and p53-independent mechanisms.

scientific article published in September 2009

Epsilon haemoglobin specific antibodies with applications in noninvasive prenatal diagnosis

scientific article published on 14 July 2009

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

scientific article published on 01 August 2015

Expression and Localization of Peroxisome Proliferator-Activated Receptors and Nuclear Factor κB in Normal and Lesional Psoriatic Skin

Expression of the RAI gene is conducive to apoptosis: studies of induction and interference

scientific article

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

Functional requirement of aquaporin-5 in plasma membranes of sweat glands.

scientific article

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

scientific article published on 4 April 2017

Gene Expression in the Liver Remnant Is Significantly Affected by the Size of Partial Hepatectomy: An Experimental Rat Study

scientific article published on 09 May 2017

Generation of eight human induced pluripotent stem cell lines from Parkinson's disease patients carrying familial mutations

scientific article published on 13 November 2019

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

scientific article published on 11 April 2018

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

scientific article published on 13 October 2016

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Global gene expression and comparison between multiple populations in the mouse epidermis.

scientific article published on 7 June 2016

Good Semen Quality and Life Expectancy: A Cohort Study of 43,277 Men

Heat-shock protein 70 genes and human longevity: a view from Denmark

scientific article published in May 2006

IL-20 gene expression is induced by IL-1beta through mitogen-activated protein kinase and NF-kappaB-dependent mechanisms

scientific article published on 25 January 2007

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

scientific article published on 08 June 2016

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

scientific article published on 27 April 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

Immunolocalization of AQP9 in liver, epididymis, testis, spleen, and brain.

scientific article

Isolating subpopulations of human epidermal basal cells based on polyclonal serum against trypsin-resistant CSPG4 epitopes.

scientific article

JP-HHT phenotype in Danish patients with SMAD4 mutations.

scientific article published on 17 November 2015

Magnetic resonance neurography and diffusion tensor imaging of the peripheral nerves in patients with Charcot-Marie-Tooth Type 1A.

scientific article published on 13 May 2017

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article

Manipulation of stem cell proliferation and lineage commitment: visualisation of label-retaining cells in wholemounts of mouse epidermis

scientific article published on 3 September 2003

Mismatch repair defective breast cancer in the hereditary nonpolyposis colorectal cancer syndrome.

scientific article published on 3 July 2009

Mitochondrial Spare Respiratory Capacity Is Negatively Correlated with Nuclear Reprogramming Efficiency.

scientific article published on 26 October 2016

Monodisperse and LPS-free Aggregatibacter actinomycetemcomitans leukotoxin: interactions with human β2 integrins and erythrocytes

scientific article published on 09 December 2012

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

scientific article published on April 2013

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

scientific article published in May 2015

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

scientific article

Persistence ofDNMT3Amutations at long-term remission in adult patients with AML

scientific article published on 04 August 2014

Phylloid hypermelanosis in a child with psychomotor delay, cicatricial alopecia, hearing loss and polythelia.

scientific article published in March 2012

Physiological effects of human growth hormone produced after hydrodynamic gene transfer of a plasmid vector containing the human ubiquitin promotor

scientific article published on 24 September 2002

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

RUNX/AML and C/EBP factors regulate CD11a integrin expression in myeloid cells through overlapping regulatory elements.

scientific article

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

scientific article

Role of melanoma chondroitin sulphate proteoglycan in patterning stem cells in human interfollicular epidermis

scientific article (publication date: December 2003)

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

scientific article published on 28 March 2013

Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

scientific article

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

scientific article published on 10 May 2017

The load of short telomeres, estimated by a new method, Universal STELA, correlates with number of senescent cells

scientific article published on 13 March 2010

The α2 and α5 integrin genes: identification of transcription factors that regulate promoter activity in epidermal keratinocytes

article

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

scientific article published on 31 January 2012

Validation of diagnostic codes for Charcot-Marie-Tooth disease in the Danish National Patient Registry

scientific article

Zinc fixation for flow cytometry analysis of intracellular and surface epitopes, DNA content, and cell proliferation

scientific article published on 01 July 2011

Zinc fixation preserves flow cytometry scatter and fluorescence parameters and allows simultaneous analysis of DNA content and synthesis, and intracellular and surface epitopes.

scientific article published on August 2010

p53 and PPP1R13L (alias iASPP or RAI) form a feedback loop to regulate genotoxic stress responses.

scientific article published on 15 September 2010

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