Lista de obras -

A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers

artículo científico publicado en 2013

A placebo-controlled randomized study with testosterone in Klinefelter syndrome: beneficial effects on body composition

scientific article published on 01 September 2019

Anthropometry in Klinefelter Syndrome - Multifactorial Influences Due to CAG Length, Testosterone Treatment and Possibly Intrauterine Hypogonadism

Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome.

artículo científico publicado en 2011

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Clinical review: Klinefelter syndrome--a clinical update.

artículo científico publicado en 2012

Corrigendum to "Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile" [NeuroImage:Clin 4 (2014) 1-9].

artículo científico publicado en 2016

Cowden syndrome diagnosed in patients with macrocephaly

Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study.

artículo científico publicado en 2012

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

artículo científico publicado en 2014

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

scientific article published in Scientific Reports

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

scientific article published on 26 August 2019

Exploring the hereditary background of renal cancer in Denmark

scholarly article by Maria Bejerholm Christensen et al published 2019 in PLOS ONE

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

artículo científico publicado en 2016

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps

artículo científico publicado en 2016

Glycemia, lipidemia and systolic left ventricular function evaluated by myocardial strain rate: a tissue Doppler echocardiographic study.

artículo científico publicado en 2007

Heterogenous mismatch-repair status in colorectal cancer

artículo científico publicado en 2014

Hypothyroidism secondary to hypothalamic-pituitary dysfunction may be part of the phenotype in klinefelter syndrome: a case-control study.

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Increased mortality in Klinefelter syndrome.

artículo científico publicado en 2004

Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy

artículo científico publicado en 2010

Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk

artículo científico publicado en 2020

Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation

artículo científico publicado en 2016

Klinefelter syndrome in clinical practice

artículo científico publicado en 2007

Klinefelter's syndrome, type 2 diabetes and the metabolic syndrome: the impact of body composition.

artículo científico publicado en 2010

Liquid growth hormone: preservatives and buffers

artículo científico publicado en 2004

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

artículo científico publicado en 2016

Microarray-Based Analysis of Methylation Status of CpGs in Placental DNA and Maternal Blood DNA--Potential New Epigenetic Biomarkers for Cell Free Fetal DNA-Based Diagnosis

artículo científico publicado en 2015

Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome

artículo científico publicado en 2016

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

artículo científico publicado en 2015

Morbidity and mortality in Klinefelter syndrome (47,XXY) ⬇️

artículo científico publicado el 6 de abril de 2011

Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses

artículo científico publicado en 2006

Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Paternal Hemizygosity in 11p15 in Mole-like Conceptuses: Two Case Reports

artículo científico publicado en 2015

Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study

artículo científico publicado en 2003

Re-Examination of Danish Carriers of Balanced Chromosomal Inversions

Short QTc interval in males with klinefelter syndrome-influence of CAG repeat length, body composition, and testosterone replacement therapy.

artículo científico publicado en 2015

Socioeconomic trajectories affect mortality in Klinefelter syndrome.

artículo científico publicado en 2011

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study

artículo científico publicado en 2014

Testosterone treatment and association with thrombin generation and coagulation inhibition in Klinefelter syndrome: A cross-sectional study

artículo científico publicado en 2019

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The macrophage low-grade inflammation marker sCD163 is modulated by exogenous sex steroids

artículo científico publicado en 2013

The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism

artículo científico publicado en 2006

The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

artículo científico publicado en 2017

The role of hypogonadism in Klinefelter syndrome.

artículo científico publicado en 2014

Lista de obras de

A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers

A placebo-controlled randomized study with testosterone in Klinefelter syndrome: beneficial effects on body composition

Anthropometry in Klinefelter Syndrome - Multifactorial Influences Due to CAG Length, Testosterone Treatment and Possibly Intrauterine Hypogonadism

Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement

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

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

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

Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome.

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

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

Clinical review: Klinefelter syndrome--a clinical update.

Corrigendum to "Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile" [NeuroImage:Clin 4 (2014) 1-9].

Cowden syndrome diagnosed in patients with macrocephaly

Criminality in men with Klinefelter's syndrome and XYY syndrome: a cohort study.

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

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Exploring the hereditary background of renal cancer in Denmark

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

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps

Glycemia, lipidemia and systolic left ventricular function evaluated by myocardial strain rate: a tissue Doppler echocardiographic study.

Heterogenous mismatch-repair status in colorectal cancer

Hypothyroidism secondary to hypothalamic-pituitary dysfunction may be part of the phenotype in klinefelter syndrome: a case-control study.

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

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

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

Increased mortality in Klinefelter syndrome.

Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy

Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk

Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation

Klinefelter syndrome in clinical practice

Klinefelter's syndrome, type 2 diabetes and the metabolic syndrome: the impact of body composition.

Liquid growth hormone: preservatives and buffers

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

Microarray-Based Analysis of Methylation Status of CpGs in Placental DNA and Maternal Blood DNA--Potential New Epigenetic Biomarkers for Cell Free Fetal DNA-Based Diagnosis

Microarray-Based Analysis of Methylation of 1st Trimester Trisomic Placentas from Down Syndrome, Edwards Syndrome and Patau Syndrome

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition

Morbidity and mortality in Klinefelter syndrome (47,XXY) ⬇️

Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses

Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile

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

Paternal Hemizygosity in 11p15 in Mole-like Conceptuses: Two Case Reports

Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling

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

Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study

Re-Examination of Danish Carriers of Balanced Chromosomal Inversions

Short QTc interval in males with klinefelter syndrome-influence of CAG repeat length, body composition, and testosterone replacement therapy.

Socioeconomic trajectories affect mortality in Klinefelter syndrome.

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study

Testosterone treatment and association with thrombin generation and coagulation inhibition in Klinefelter syndrome: A cross-sectional study

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

The macrophage low-grade inflammation marker sCD163 is modulated by exogenous sex steroids

The metabolic syndrome is frequent in Klinefelter's syndrome and is associated with abdominal obesity and hypogonadism

The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

The role of hypogonadism in Klinefelter syndrome.