Zobrazeno 1 - 10
of 19
pro vyhledávání: '"G J B van Ommen"'
Autor:
Adam Kiezun, Sara L Pulit, Laurent C Francioli, Freerk van Dijk, Morris Swertz, Dorret I Boomsma, Cornelia M van Duijn, P Eline Slagboom, G J B van Ommen, Cisca Wijmenga, Genome of the Netherlands Consortium, Paul I W de Bakker, Shamil R Sunyaev
Publikováno v:
PLoS Genetics, Vol 9, Iss 2, p e1003301 (2013)
Large-scale population sequencing studies provide a complete picture of human genetic variation within the studied populations. A key challenge is to identify, among the myriad alleles, those variants that have an effect on molecular function, phenot
Externí odkaz:
https://doaj.org/article/8d99e27d7b2b479aa5787a4f6862e289
Publikováno v:
Journal of medical genetics, 39(11), 857-862. BMJ Publishing Group
Changes in mood and behaviour form the most variable symptoms of the clinical characteristics of Huntington’s disease (HD).1 Although the diagnosis is usually based on motor signs, behavioural changes occur as a first manifestation of HD in up to h
Autor:
J.T. den Dunnen, Mattie Bremmer-Bout, G-J B van Ommen, Anneke A.M. Janson, Annemieke Aartsma-Rus, J.C.T. van Deutekom, Wendy E. Kaman
Publikováno v:
Gene therapy. 11(18)
As small molecule drugs for Duchenne muscular dystrophy (DMD), antisense oligonucleotides (AONs) have been shown to restore the disrupted reading frame of DMD transcripts by inducing specific exon skipping. This allows the synthesis of largely functi
Autor:
BALLABIO, ANDREA, FRANCO, BRUNELLA, M. C. Wapenaar, L. Schaefer, K. Ellison, G. B. Ferrero, A. Grillo, G. J. B. van Ommen, A. C. Chinault, H.Y. Zoghbi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::6f22c634167c1f9cd12a21c391091d22
http://hdl.handle.net/11588/352025
http://hdl.handle.net/11588/352025
Autor:
M van Vugt, Takashi Saito, H.H van Ojik, Shozo Izui, Sandra M. M. Hellwig, G-J B van Ommen, Lucien A. Aarden, J. Gerber, R. Roozendaal, W.B. van den Berg, David M. Mosser, S.A da Silveira, S. de Kimpe, Andreea Ioan-Facsinay, Y.F de Jong, Christine Sedlik, Frans M. A. Hofhuis, J.G.J. van de Winkel, J. S. Verbeek, Sebastian Amigorena, P.L.E.M. van Lent
Publikováno v:
Immunity, 16, 391-402
Immunity, Vol. 16, No 3 (2002) pp. 391-402
Immunity, 16(3), 391-402. Cell Press
Immunity, 16, 3, pp. 391-402
Immunity, Vol. 16, No 3 (2002) pp. 391-402
Immunity, 16(3), 391-402. Cell Press
Immunity, 16, 3, pp. 391-402
Item does not contain fulltext The high-affinity receptor for IgG, FcgammaRI, shares its capacity to bind IgG2a immune complexes (IgG2a-IC) with the low-affinity receptor FcgammaRIII and complement factors, hampering the definition of its biological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1a3cae053f3ff12d83428dcebf70697
http://hdl.handle.net/2066/142819
http://hdl.handle.net/2066/142819
Autor:
G-J B van Ommen, A. van Haeringen, C.D. van Karnebeek, M.H. Breuning, Hans G. Dauwerse, J.H. Rubinstein, R.I. Blough, Rachel H. Giles, J.J. van der Smagt, Fred Petrij, Howard M. Saal, Dorien J.M. Peters, P.D. Maaswinkel-Mooy, Raoul C.M. Hennekam, R. Wallerstein
Publikováno v:
Journal of medical genetics, 37(3), 168-176. BMJ Publishing Group
Journal of Medical Genetics, 37, 168-176. BMJ Publishing Group
Scopus-Elsevier
Journal of Medical Genetics, 37, 168-176. BMJ Publishing Group
Scopus-Elsevier
Rubinstein-Taybi syndrome (RTS) is a malformation syndrome characterised by facial abnormalities, broad thumbs, broad big toes, and mental retardation. In a subset of RTS patients, microdeletions, translocations, and inversions involving chromosome b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b2ef4e005114754393fb15f38cc5597
https://pure.amc.nl/en/publications/diagnostic-analysis-of-the-rubinsteintaybi-syndrome-five-cosmids-should-be-used-for-microdeletion-detection-and-low-number-of-protein-truncating-mutations(1e001bd4-76b8-4e43-9c8e-93d53dd3bb4a).html
https://pure.amc.nl/en/publications/diagnostic-analysis-of-the-rubinsteintaybi-syndrome-five-cosmids-should-be-used-for-microdeletion-detection-and-low-number-of-protein-truncating-mutations(1e001bd4-76b8-4e43-9c8e-93d53dd3bb4a).html
Autor:
G-J B van Ommen, W.M.C. van Roon-Mom, A Weiss, Melvin M. Evers, S.A.M. Mulders, J.T. den Dunnen, A Roscic, J.C.T. van Deutekom, A. Aartsma-Rus
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 81:A13.3-A13
Background Huntington9s disease (HD) is a devastating disease for which currently no therapy is available. It is a progressive autosomal dominant neurodegenerative disorder that is caused by a CAG repeat expansion in the HD gene which results in an e
Autor:
G-J B van Ommen, J.T. den Dunnen, Menno H. Schut, Rinse Klooster, Barry A. Pepers, W.M.C. van Roon-Mom
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 81:A13.1-A14
Background Huntington9s disease (HD) is an autosomal dominant neurodegenerative disease caused by elongation of a CAG repeat within the first exon of the HD gene. This mutation leads to an elongated glutamine (Q) repeat within the huntingtin protein
Autor:
W.M.C. van Roon-Mom, G-J B van Ommen, Melvin M. Evers, S.A.M. Mulders, J.C.T. van Deutekom, A. Aartsma-Rus, J.T. den Dunnen
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 81:A13.4-A13
Background To date there are nine known polyglutamine (polyQ) disorders: spinal bulbar muscular atrophy (SBMA), dentatorubral-pallidoluysian atrophy (DRPLA), Huntington9s disease (HD) and spinocerebellar ataxias (SCA1, 2, 3, 6, 7, and 17). These dise
Autor:
G-J B van Ommen, J.T. den Dunnen, E. J. de Meijer, Rolf Turk, Ellen Sterrenburg, Peter A C 't Hoen
Publikováno v:
BMC Genomics
BMC Genomics, Vol 6, Iss 1, p 98 (2005)
BMC Genomics, Vol 6, Iss 1, p 98 (2005)
Background Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is lethal. In contrast, dystrophin-deficient mdx mice recover due to effective regeneration of affected muscle tissue. To characterize the molecular processes a