Zobrazeno 1 - 10
of 955
pro vyhledávání: '"Ropers, H."'
Autor:
Franić, Sanja, Dolan, Conor V., Broxholme, John, Hu, Hao, Zemojtel, Tomasz, Davies, Garreth E., Nelson, Kelly A., Ehli, Erik A., Pool, René, Hottenga, Jouke-Jan, Ropers, H.-Hilger, Boomsma, Dorret I.
Publikováno v:
In Intelligence March-April 2015 49:10-22
Autor:
Ropers, H., van Karnebeek, C.
Publikováno v:
Cold Spring Harbor Molecular Case Studies
After a long and largely disappointing detour, Genome Research has reidentified Rare Diseases as a major opportunity for improving health care and a clue to understanding gene and genome function. In this Special Issue of CSH Molecular Case Studies o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1874::fde67df50e3d4d70a788f4ed6daea06d
https://hdl.handle.net/21.11116/0000-000A-6887-921.11116/0000-000A-6885-B
https://hdl.handle.net/21.11116/0000-000A-6887-921.11116/0000-000A-6885-B
Autor:
Jensen, L.R., Garrett, L., Hölter, S.M., Rathkolb, B., Rácz, I., Adler, T., Prehn, C., Hans, W., Rozman, J., Becker, L., Aguilar-Pimentel, J.A., Puk, O., Moreth, K., Dopatka, M., Walther, D.J., Bohlen und Halbach, V. von, Rath, M., Delatycki, M., Bert, B., Fink, H., Blümlein, K., Ralser, M., Dijck, A. van, Kooy, F., Stark, Z., Müller, S., Scherthan, H., Gecz, J., Wurst, W., Wolf, E., Zimmer, A., Klingenspor, M., Graw, J., Klopstock, T., Busch, D., Adamski, J., Fuchs, H., Gailus-Durner, V., Hrabe de Angelis, M., Bohlen und Halbach, O. von, Ropers, H.-H., Kuss, A.W.
Mutations in the X chromosomal tRNA 2'‑O‑methyltransferase FTSJ1 cause intellectual disability (ID). Although the gene is ubiquitously expressed affected individuals present no consistent clinical features beyond ID. In order to study the patholo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______610::9e7e65a723b876eb79d363ae80f014bc
https://publica.fraunhofer.de/handle/publica/258644
https://publica.fraunhofer.de/handle/publica/258644
Autor:
Kazeminasab, S., Taskiran, I., Fattahi, Z., Bazazzadegan, N., Hosseini, M., Rahimi, M., Oladnabi, M., Haddadi, M., Celik, A., Ropers, H., Najmabadi, H., Kahrizi, K.
Publikováno v:
Am J Med Genet B Neuropsychiatr Genet
The advent of high-throughput sequencing technologies has led to an exponential increase in the identification of novel disease-causing genes in highly heterogeneous diseases. A novel frameshift mutation in CNKSR1 gene was detected by Next-Generation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1874::c5efaab942c372b6881491c855e65dab
https://hdl.handle.net/21.11116/0000-0003-5864-A21.11116/0000-0003-5866-8
https://hdl.handle.net/21.11116/0000-0003-5864-A21.11116/0000-0003-5866-8
Publikováno v:
Science, 1993 Oct . 262(5133), 578-580.
Externí odkaz:
https://www.jstor.org/stable/2882585
Publikováno v:
In Journal of Psychiatric Research 2002 36(3):119-129
Publikováno v:
BMC Bioinformatics, Vol 6, Iss 1, p 85 (2005)
Abstract Background Array CGH (Comparative Genomic Hybridisation) is a molecular cytogenetic technique for the genome wide detection of chromosomal imbalances. It is based on the co-hybridisation of differentially labelled test and reference DNA onto
Externí odkaz:
https://doaj.org/article/badd5416f3574f018475b4ce140e3dd2
Autor:
Ropers H Hilger, Liu Edison T, Nuber Ulrike A, Sotiriou Christos, Aprelikova Olga, Chandramouli Gadisetti VR, Jazaeri Amir A, Yee Cindy J, Boyd Jeff, Barrett J Carl
Publikováno v:
Journal of Translational Medicine, Vol 2, Iss 1, p 32 (2004)
Abstract Recently BRCA1 has been implicated in the regulation of gene expression from the X chromosome. In this study the influence of BRCA1 on expression of X chromosome genes was investigated. Complementary DNA microarrays were used to compare the
Externí odkaz:
https://doaj.org/article/038b9d2e28bb4184ab6f4783c2275641
Publikováno v:
BMC Genomics, Vol 4, Iss 1, p 1 (2003)
Abstract Background Methylation at CpG dinucleotides in genomic DNA is a fundamental epigenetic mechanism of gene expression control in vertebrates. Proteins with a methyl-CpG-binding domain (MBD) can bind to single methylated CpGs and most of them a
Externí odkaz:
https://doaj.org/article/87b14e7ff6784657a30eb9afe1664a6d
Autor:
Ropers, H. -Hilger1 ropers@molgen.mpg.de, Hamel, Ben C. J.2
Publikováno v:
Nature Reviews Genetics. Jan2005, Vol. 6 Issue 1, p46-57. 12p. 1 Diagram, 2 Charts, 1 Graph.