5 Result(s)
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Mads Bak
Molecular Medicine
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Article
Open AccessCryptic 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.
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Article
Phenotypic subregions within the split-hand/foot malformation 1 locus
Split-hand/foot malformation 1 (SHFM1) is caused by chromosomal aberrations involving the region 7q21.3, DLX5 mutation, and dysregulation of DLX5/DLX6 expression by long-range position effects. SHFM1 can be isola...
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Article
Open AccessThe 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...
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Article
Open AccessDysregulation 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...
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Chapter
The Hedgehog Signaling Pathway in Cancer
