Výsledky vyhledávání - "Nillesen, Willy M."

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Publikováno v: European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 23(3), 317-324. Nature Publishing Group
European Journal of Human Genetics, 23(3), 317. Nature Publishing Group
European Journal of Human Genetics, 23, 317-24
European Journal of Human Genetics, 23, 3, pp. 317-24

Contains fulltext : 152975.pdf (Publisher’s version ) (Open Access) Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphisms and congenital heart defects. To date, all mutations known to cause NS are domi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f49dcf0897b3740a4e1da642d452c385
https://doi.org/10.1038/ejhg.2014.115

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Akademický článek

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction

Autor: Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Christeen Ramane, Pedurupillay Jesuthasan, Strømme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjærgaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zoë, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.

Publikováno v: Gabriele, Michele Vulto-van Silfhout, Anneke T. Germain, Pierre-Luc Vitriolo, Alessandro Kumar, Raman Douglas, Evelyn Haan, Eric Kosaki, Kenjiro Takenouchi, Toshiki Rauch, Anita Steindl, Katharina Frengen, Eirik Misceo, Doriana Christeen Ramane, Pedurupillay Jesuthasan Strømme, Petter Rosenfeld, Jill A. Shao, Yunru Craigen, William J. Schaaf, Christian P. Rodriguez-Buritica, David Farach, Laura Friedman, Jennifer Thulin, Perla McLean, Scott D. Nugent, Kimberly M. Morton, Jenny Nicholl, Jillian Andrieux, Joris Stray-Pedersen, Asbjørg Chambon, Pascal Patrier, Sophie Lynch, Sally A. Kjærgaard, Susanne Tørring, Pernille M. Brasch-Andersen, Charlotte Ronan, Anne van Haeringen, Arie Anderson, Peter J. Powis, Zoë Brunner, Han G. Pfundt, Rolph Schuurs-Hoeijmakers, Janneke H.M. van Bon, Bregje W.M. Lelieveld, Stefan Gilissen, Christian Nillesen, Willy M. Vissers, Lisenka E.L.M. Gecz, Jozef Koolen, David A. Testa, Giuseppe de Vries, Bert B.A. . YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Jo
American Jo

Externí odkaz: http://hdl.handle.net/10852/63294
https://www.duo.uio.no/bitstream/handle/10852/63294/1/YY1haploinsufficiency%2Bsyndrome.pdf

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Akademický článek

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Autor: Croonen, Ellen A¹, Nillesen, Willy M², Stuurman, Kyra E³, Oudesluijs, Gretel⁴, van de Laar, Ingrid M B M⁴, Martens, Liesbeth², Ockeloen, Charlotte², Mathijssen, Inge B⁵, Schepens, Marga², Ruiterkamp-Versteeg, Martina², Scheffer, Hans², Faas, Brigitte H W², van der Burgt, Ineke², Yntema, Helger G²

Publikováno v: European Journal of Human Genetics. Sep2013, Vol. 21 Issue 9, p936-942. 7p. 3 Charts, 1 Graph.

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Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration

Autor: Duvvari, Maheswara R., Saksens, Nicole T.M., van de Ven, Johannes P.H., de Jong-Hesse, Yvonne, Schick, Tina, Nillesen, Willy M., Fauser, Sascha, Hoefsloot, Lies H., Hoyng, Carel B., de Jong, Eiko K., den Hollander, Anneke I.

Publikováno v: Duvvari, M R, Saksens, N T M, van de Ven, J P H, Hesse, Y, Schick, T, Nillesen, W M, Fauser, S, Hoefsloot, L H, Hoyng, C B, de Jong, E K & den Hollander, A I 2015, ' Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration ', Molecular Vision, vol. 21, pp. 285-292 . < http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360166/ >
Molecular Vision, 21, 285-292
Molecular Vision, 21, pp. 285-292
Molecular Vision, 21, 285-292. Molecular Vision
Molecular Vision

Contains fulltext : 154155.pdf (Publisher’s version ) (Open Access) PURPOSE: Age-related macular degeneration (AMD) and cuticular drusen (CD), a clinical subtype of AMD, have been linked to genetic variants in the complement factor H (CFH) gene. In

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4f34d08516bf61e6c9b30662a082b2c8
https://research.vumc.nl/en/publications/dfd34c93-f5fa-468b-bd1b-1752cf9e78c4

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