A5070971387- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Genetic factors in colorectal cancer
- Congenital heart defects research
- Diabetes and associated disorders
- Diabetes Management and Research
- RNA modifications and cancer
- Chronic Lymphocytic Leukemia Research
- Acute Myeloid Leukemia Research
- Genomics and Chromatin Dynamics
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Ubiquitin and proteasome pathways
- Immunodeficiency and Autoimmune Disorders
- Fetal and Pediatric Neurological Disorders
- Cancer Genomics and Diagnostics
- Axon Guidance and Neuronal Signaling
- Psoriasis: Treatment and Pathogenesis
- Chromatin Remodeling and Cancer
- Gender Studies in Language
- bioluminescence and chemiluminescence research
- Mast cells and histamine
- Congenital Diaphragmatic Hernia Studies
Copenhagen University Hospital
2016-2024
University of Copenhagen
2012-2023
Rigshospitalet
2016-2023
BioInnovation Institute
2023
Hvidovre Hospital
2023
Zealand University Hospital
2023
Herlev Hospital
2023
Université Sorbonne Paris Nord
2018
Kennedy Center
2016
HistoGenetics (United States)
2014
Abstract Objective In terms of number X chromosomes, women with Turner's syndrome cytogenetically resemble men. An increased risk autoimmune diseases has been observed among syndrome. This study was undertaken to investigate whether the disease profile in is characterized by a female or male predominance. Methods Using Danish Cytogenetic Central Register, National Patient and Civil Registration System, we estimated relative 46 different cohort 798 followed up for 12,461 person‐years between...
Simulation based learning environments are designed to improve the quality of medical education by allowing students interact with patients, diagnostic laboratory procedures, and patient data in a virtual environment. However, few studies have evaluated whether simulation increase students' knowledge, intrinsic motivation, self-efficacy, help them generalize from analyses clinical practice health decision-making. An entire class 300 University Copenhagen first-year undergraduate students,...
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. abnormalities are common brain malformations a wide clinical spectrum ranging from severe disability to normal cognitive function. The etiology is expected be genetic as much 30-50% the cases, but underlying cause remains unknown majority cases. By next-generation mate-pair sequencing we mapped chromosomal breakpoints patient de novo balanced translocation,...
Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort children PRRT2-related infantile epilepsy, this study aimed at delineating broad clinical PRRT2-associated phenotypes these and their relatives. Only few recent larger studies are record findings from single reports were not confirmed so far. We collected detailed genetic phenotypic data 40 previously unreported...
Abstract We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in three generation family, giving rise to individuals with an unbalanced rearrangement. Two of the individuals, sister and brother, were investigated further this study. They had minor facial dysmorphism neuropsychiatric disorders including mental retardation, language delay epilepsy. The primary amenorrhea. Array CGH revealed 12.2 Mb deletion at 7q34–q36.2 more than 60 genes where CNTNAP2 NOBOX are...
Only 20 patients with deletions of 18q12.2 have been reported in the literature and associated phenotype includes borderline intellectual disability, behavioral problems, seizures, obesity, eye manifestations. Here, we report a male patient de novo translocation involving chromosomes 12 18, IQ, developmental disorders, myopia, febrile seizures childhood. We characterized rearrangement Affymetrix SNP 6.0 Array analysis next-generation mate pair sequencing found truncation CELF4 at 18q12.2....
The autosomal dominant von Hippel‐Lindau disease (vHL) is associated with a lifelong risk of tumor development, especially retinal and CNS hemangioblastomas, pheochromocytoma, renal cell carcinoma. Knowledge paediatric vHL development limited, current surveillance guidelines are based on expert opinions. We aimed to describe the course in children adolescents, focusing age at first manifestation, manifestation frequencies, types. prevalence diagnosis as well manifestations childhood were...
Objectives Breakpoints of chromosomal abnormalities facilitate identification novel candidate genes for psychiatric disorders. Genome‐wide significant evidence supports the linkage between chromosome 17q25.3 and bipolar disorder ( BD ). Co‐segregation translocation t(9;17)(q33.2;q25.3) with disorders has been reported. We aimed to narrow down these breakpoint regions investigate associations single nucleotide polymorphisms within as well schizophrenia SZ ) in large genome‐wide association...
OBJECTIVE: To identify possible influences and interactions of perinatal determinants in the subsequent development type 1 diabetes. RESEARCH DESIGN AND METHODS: The data were obtained from children born Denmark during periods 1978-1982 1984-1986 admitted to a Danish hospital with newly diagnosed diabetes between 1978 1995; 857 patients fulfilled criteria. study was conducted by combining analyzing two national registries: National Patient Registry Medical Birth Registry. For each diabetic...
Summary Aims To investigate, by means of a twin‐control study, whether there is relationship between birth weight and Type 1 diabetes mellitus. Methods In the youngest part ( n = 20 888 pairs) Danish Twin Register, 95 twin pairs (26 monozygotic 69 dizygotic) with were identified. Information about length, prematurity, maternal age parity was obtained from midwives' records Medical Birth Registry analysed using Student's two‐sided t ‐test, Chi‐square test logistic regression. Results data...
<h3>Background</h3> Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there no report on 3q interstitial deletions. <h3>Methods</h3> We for first time seven patients with deletions at 3q27.3q28 locus gathered through Decipher database, and suggest this as syndrome. <h3>Results</h3> The shared recognisable facial dysmorphism marfanoid habitus,...