Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Desiree von Tell"'
Autor:
Adam Bogdan, Magnus Nordenskjöld, Jan Komorowski, Carl E.G. Bruder, Teresita Díaz de Ståhl, Meena Upadhyaya, Jan P. Dumanski, Ann-Charlotte Thuresson, Amir I. Elshafie, Gehad ElGhazali, Stephan Imreh, Desiree von Tell, Caisa M. Hansson, Robin Andersson, Helena Nord, Johanna Sandgren, Uwe Menzel, Andrzej Poplawski, Arkadiusz Piotrowski
Publikováno v:
Human Mutation. 29:398-408
To further explore the extent of structural large-scale variation in the human genome, we assessed copy number variations (CNVs) in a series of 71 healthy subjects from three ethnic groups. CNVs were analyzed using comparative genomic hybridization (
Publikováno v:
Experimental Cell Research. 312:623-629
Newly formed endothelial tubes are initially unstable and subsequently become stabilized through the formation of a perivascular matrix and the association with pericytes. The presence of pericyte per se is not sufficient for vascular stability. Inst
Publikováno v:
Neurogenetics. 4:173-177
Welander distal myopathy (WDM) is a late adult-onset autosomal dominant disorder, characterized by a slow progression and distal limb weakness of the extremity muscles. The WDM locus has been mapped to chromosome 2p13. Within this region a common sha
Autor:
Carl E.G. Bruder, Andrzej Poplawski, E. Christopher Partridge, Rafal Bartoszewski, Maciej Krzyżanowski, Chiquito J. Crasto, Zsuzsa Bebok, Zbigniew Jankowski, Uwe Menzel, Robin Andersson, Jan Komorowski, Johanna Sandgren, Teresita Díaz de Ståhl, Adam Bogdan, Jan P. Dumanski, Desiree von Tell, Arkadiusz Piotrowski
Publikováno v:
Human mutation. 29(9)
Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase- to megabase-sized chromosomal segments. It is unknown wh
Autor:
Michael J. Crowley, E. Christopher Partridge, Dorret I. Boomsma, Teresita Díaz de Ståhl, Antoinet C.J. Gijsbers, Uwe Menzel, Carl E.G. Bruder, Andrzej Poplawski, Robin Andersson, Gert-Jan B. van Ommen, Karin Wirdefeldt, Stephen W. Erickson, Jan Komorowski, Chiquito J. Crasto, Johan T. den Dunnen, Nancy L. Pedersen, David B. Allison, Johanna Sandgren, Desiree von Tell, Jan P. Dumanski, Hemant K. Tiwari, Arkadiusz Piotrowski
Publikováno v:
American Journal of Human Genetics, 82(3), 763-771. Cell Press
Bruder, C E G, Piotrowski, A, Gijsbers, A A C J, Anderson, R, Erickson, S, Diaz de Stahl, T, Menzel, U, Sandgren, J, von Tell, D, Poplawski, A, Crowley, M, Crasto, C, Partridge, E C, Tiwari, H, Allison, D B, Komorowski, J, van Ommen, G J B, Boomsma, D I, Pedersen, N L, den Dunnen, J T, Wirdefeldt, K & Dumanski, J P 2008, ' Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles. ', American Journal of Human Genetics, vol. 82, no. 3, pp. 763-771 . https://doi.org/10.1016/j.ajhg.2007.12.011
Bruder, C E G, Piotrowski, A, Gijsbers, A A C J, Anderson, R, Erickson, S, Diaz de Stahl, T, Menzel, U, Sandgren, J, von Tell, D, Poplawski, A, Crowley, M, Crasto, C, Partridge, E C, Tiwari, H, Allison, D B, Komorowski, J, van Ommen, G J B, Boomsma, D I, Pedersen, N L, den Dunnen, J T, Wirdefeldt, K & Dumanski, J P 2008, ' Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles. ', American Journal of Human Genetics, vol. 82, no. 3, pp. 763-771 . https://doi.org/10.1016/j.ajhg.2007.12.011
The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c442e17aab1cb31320e3f2a5ea72df1
https://research.vu.nl/en/publications/d32b3502-8c41-49e1-9a20-cea0509d4808
https://research.vu.nl/en/publications/d32b3502-8c41-49e1-9a20-cea0509d4808
Autor:
Desiree von Tell, Marie-Louise Molander, Agneta Nordenskjöld, Pär-Johan Svensson, Maria Anvret
Publikováno v:
Karolinska Institutet
Hirschsprung's disease, affecting one in 5000 live newborns, is the most common cause of neonatal intestinal obstruction. The obstruction or, later in life, constipation arises from the lack of enteric ganglia in the hindgut, thus resulting in poor c