7 Result(s)

Article

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring.

Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak… in Molecular Cytogenetics (2018)

Article

Identification of the BRD1 interaction network and its impact on mental disorder risk

The bromodomain containing 1 (BRD1) gene has been implicated with transcriptional regulation, brain development, and susceptibility to schizophrenia and bipolar disorder. To advance the understanding of BRD1 a...

Tue Fryland, Jane H. Christensen, Jonatan Pallesen, Manuel Mattheisen… in Genome Medicine (2016)

Article

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57

Transient neonatal diabetes mellitus 1 (TNDM1) is a rare imprinting disorder characterized by intrautering growth retardation and diabetes mellitus usually presenting within the first six weeks of life and res...

Mads Bak, Susanne E. Boonen, Christina Dahl… in BMC Medical Genetics (2016)

Article

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element disruption, and cryptic imbalances on rearranged chromosomes. R...

Ana Carolina S. Fonseca, Adriano Bonaldi, Simone A. S. Fonseca… in Molecular Cytogenetics (2015)

Article

Dysregulation of FOXG1 by ring chromosome 14

In this study we performed molecular characterization of a patient with an extra ring chromosome derived from chromosome 14, with severe intellectual disability, epilepsy, cerebral paresis, tetraplegia, osteop...

Daniela Alosi, Laura Line Klitten, Mads Bak, Helle Hjalgrim… in Molecular Cytogenetics (2015)

Article

Relating genomic variation to drug response in childhood acute lymphoblastic leukemia by multiplexed targeted sequencing

Agata Wesolowska, Marlene D Dalgaard, Louise Borst, Laurent Gautier… in Genome Biology (2010)