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Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity.
Eur J Med Genet. 2017 Sep;60(9):445-450. doi: 10.1016/j.ejmg.2017.06.003. Epub 2017 Jun 8.
Eur J Med Genet. 2017.
PMID: 28602932
The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.
Srebniak MI, Knapen MFCM, Polak M, Joosten M, Diderich KEM, Govaerts LCP, Boter M, Kromosoeto JNR, van Hassel DACM, Huijbregts G, van IJcken WFJ, Heydanus R, Dijkman A, Toolenaar T, de Vries FAT, Knijnenburg J, Go ATJI, Galjaard RH, Van Opstal D.
Srebniak MI, et al. Among authors: van hassel dacm.
Hum Mutat. 2017 Jul;38(7):880-888. doi: 10.1002/humu.23232. Epub 2017 May 30.
Hum Mutat. 2017.
PMID: 28409863
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Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p.
Oegema R, van Zutven LJ, van Hassel DA, Huijbregts GC, Hoogeboom AJ.
Oegema R, et al.
Eur J Med Genet. 2012 Apr;55(4):265-8. doi: 10.1016/j.ejmg.2012.01.015. Epub 2012 Feb 21.
Eur J Med Genet. 2012.
PMID: 22406089
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Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.
Lodder EM, Eussen BH, van Hassel DA, Hoogeboom AJ, Poddighe PJ, Coert JH, Oostra BA, de Klein A, de Graaff E.
Lodder EM, et al.
Chromosome Res. 2009;17(6):737-44. doi: 10.1007/s10577-009-9059-5. Epub 2009 Aug 12.
Chromosome Res. 2009.
PMID: 19672683
Free PMC article.
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