Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Haeringen, A. van"'
Autor:
Alpaslan, Murat, Fastré, Elodie, Mestre, Sandrine, Haeringen, Arie van, Repetto, Gabriela M, Keymolen, Kathelijn, Boon, Laurence M, Belva, Florence, Giacalone, Guido, Revencu, Nicole, Sznajer, Yves, Riches, Katie, Keeley, Vaughan, Mansour, Sahar, Gordon, Kristiana, Martin-Almedina, Silvia, Dobbins, Sara, Ostergaard, Pia, Quere, Isabelle, Brouillard, Pascal
Publikováno v:
Human Molecular Genetics; 7/15/2024, Vol. 33 Issue 14, p1250-1261, 12p
Autor:
Lee, Sunwoo, Menzies, Lara, Hay, Eleanor, Ochoa, Eguzkine, Docquier, France, Rodger, Fay, Deshpande, Charu, Foulds, Nicola C, Jacquemont, Sébastien, Jizi, Khadije, Kiep, Henriette, Kraus, Alison, Löhner, Katharina, Morrison, Patrick J, Popp, Bernt, Richardson, Ruth, Haeringen, Arie van, Martin, Ezequiel, Toribio, Ana, Li, Fudong
Publikováno v:
Human Molecular Genetics; 11/15/2023, Vol. 32 Issue 22, p3123-3134, 12p
Autor:
Koene, S., Klerx-Melis, F., Roest, A.A.W., Kleijwegt, M.C., Bootsma, M., Haak, M.C., Haeringen, M.H. van, Ruivenkamp, C.A.L., Nibbeling, E.A.R., Haeringen, A. van
Publikováno v:
American Journal of Medical Genetics Part A, 188(12), 3510-3515. WILEY
Haplo-insufficiency of the TGF beta-activated kinase 1 binding protein 2 (TAB2) gene is associated with short stature, facial dysmorphisms, connective tissue abnormalities, hearing loss, and cardiac disease. Skeletal dysplasia and sacral dimples are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030e78ac1cf5f927cbc06968e32e30be
http://hdl.handle.net/1887/3515795
http://hdl.handle.net/1887/3515795
Autor:
Sobering, A.K., Bryant, L.M., Li, D., McGaughran, J., Maystadt, I., Moortgat, S., Graham, J.M., Haeringen, A. van, Ruivenkamp, C., Cuperus, R., Vogt, J., Morton, J., Brasch-Andersen, C., Steenhof, M., Hansen, L.K., Adler, E., Lyonnet, S., Pingault, V., Sandrine, M., Ziegler, A., Donald, T., Nelson, B., Holt, B., Petryna, O., Firth, H., McWalter, K., Zyskind, J., Telegrafi, A., Juusola, J., Person, R., Bamshad, M.J., Earl, D., Tsai, A.C.H., Yearwood, K.R., Marco, E., Nowak, C., Douglas, J., Hakonarson, H., Bhoj, E.J., Univ Washington Ctr Mendelian Geno
Publikováno v:
Human Genetics and Genomics Advances, 3(3). ELSEVIER
Sobering, A K, Bryant, L M, Li, D, McGaughran, J, Maystadt, I, Moortgat, S, Graham, J M, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Vogt, J, Morton, J, Brasch-Andersen, C, Steenhof, M, Hansen, L K, Adler, É, Lyonnet, S, Pingault, V, Sandrine, M, Ziegler, A, Donald, T, Nelson, B, Holt, B, Petryna, O, Firth, H, McWalter, K, Zyskind, J, Telegrafi, A, Juusola, J, Person, R, Bamshad, M J, Earl, D, Tsai, A C H, Yearwood, K R, Marco, E, Nowak, C, Douglas, J, Hakonarson, H, Bhoj, E J & University of Washington Center for Mendelian Genomics 2022, ' Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology ', Human Genetics and Genomics Advances, vol. 3, no. 3, 100102 . https://doi.org/10.1016/j.xhgg.2022.100102
Sobering, A K, Bryant, L M, Li, D, McGaughran, J, Maystadt, I, Moortgat, S, Graham, J M, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Vogt, J, Morton, J, Brasch-Andersen, C, Steenhof, M, Hansen, L K, Adler, É, Lyonnet, S, Pingault, V, Sandrine, M, Ziegler, A, Donald, T, Nelson, B, Holt, B, Petryna, O, Firth, H, McWalter, K, Zyskind, J, Telegrafi, A, Juusola, J, Person, R, Bamshad, M J, Earl, D, Tsai, A C H, Yearwood, K R, Marco, E, Nowak, C, Douglas, J, Hakonarson, H, Bhoj, E J & University of Washington Center for Mendelian Genomics 2022, ' Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology ', Human Genetics and Genomics Advances, vol. 3, no. 3, 100102 . https://doi.org/10.1016/j.xhgg.2022.100102
Loss-of-function variants in PHD Finger Protein 8 (PHF8) cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID. PHF8 is a histone demethylase that is important for epigenetic regulation of gene expression. PHF8-XLI
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c0c2f4bddb24a1f74df42714cfbbe1
https://hdl.handle.net/1887/3561451
https://hdl.handle.net/1887/3561451
Autor:
Lauffer, P., Boudin, E., Kaay, D.C.M. van der, Koene, S., Haeringen, A. van, Tellingen, V. van, Hul, W. van, Prickett, T.C.R., Mortier, G., Espiner, E.A., Duyvenvoorde, H.A. van
Publikováno v:
Journal of the Endocrine Society
Journal of the Endocrine Society, 6(4):bvac019. Endocrine Society
Journal of the Endocrine Society, 6(4). ENDOCRINE SOC
Journal of the Endocrine Society, 6(4):bvac019. Endocrine Society
Journal of the Endocrine Society, 6(4). ENDOCRINE SOC
Context Natriuretic peptide receptor-C (NPR-C, encoded by NPR3) belongs to a family of cell membrane–integral proteins implicated in various physiological processes, including longitudinal bone growth. NPR-C acts as a clearance receptor of natriure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a3c39cd89a2a4105d9aacdfc4fbe0f4
https://lirias.kuleuven.be/handle/20.500.12942/696061
https://lirias.kuleuven.be/handle/20.500.12942/696061
Akademický článek
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Autor:
Sluijs, P.J. van der, Aten, E., Barge-Schaapveld, D.Q.C.M., Bijlsma, E.K., Bokenkamp-Gramann, R., Kaat, L.D., Doorn, R. van, Putte, D.F. van de, Haeringen, A. van, Harkel, A.D.J. ten, Hilhorst-Hofstee, Y., Hoffer, M.J.V., Hollander, N.S. den, Ierland, Y. van, Koopmans, M., Kriek, M., Moghadasi, S., Nibbeling, E.A.R., Peeters-Scholte, C.M.P.C.D., Potjer, T.P., Rij, M. van, Ruivenkamp, C.A.L., Rutten, J.W., Steggerda, S.J., Suerink, M., Tan, R.N.G.B., Tuin, K. van der, Visser, R., Werf-'t Lam, A.S. van der, Williams, M., Witlox, R., Santen, G.W.E.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d12b5da8a07bddc55f5c510107503594
https://doi.org/10.1038/s41436-018-0363-3
https://doi.org/10.1038/s41436-018-0363-3
Autor:
Sluijs, P.J. van der, Jansen, S., Vergano, S.A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wodl, S., Berry, K., Bijlsma, E.K., Bok, L.A., Brouwer, A.F.J., Burgt, I. van der, Campeau, P.M., Canham, N., Chrzanowska, K., Chu, Y.W.Y., Chung, B.H.Y., Dahan, K., Rademaeker, M. de, Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E.R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E.H., Grasshoff, U., Haeringen, A. van, Heitink, K.R., Herkert, J.C., Hollander, N.S. den, Horn, D., Hunt, D., Kant, S.G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L.W., Lederer, D., Lees, M., Lopez-Gonzalez, V., Maas, S., Mancini, G.M.S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., Mckee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J.B., Netzer, C., Ockeloen, C.W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S.N.M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S.P., Roifman, M., Rooryck, C., Ropers, F.G., Rosello, M., Ruivenkamp, C.A.L., Sagiroglu, M.S., Sallevelt, S.C.E.H., Calvo, A.S., Simsek-Kiper, P.O., Soares, G., Solaeche, L., Sonmez, F.M., Splitt, M., Steenbeek, D., Stegmann, A.P.A., Stumpel, C.T.R.M., Tanabe, S., Uctepe, E., Utine, G.E., Veenstra-Knol, H.E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A.T., Wheeler, P., Wilson, G.N., Wilson, L.C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., Vries, B.B.A. de, Clayton-Smith, J., Santen, G.W.E.
Publikováno v:
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.) van der Sluijs. This has now been corrected in both the PDF and HTML versions of the Articl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6e2a523486202ae0ea0c08bc1d0d21e7
https://hdl.handle.net/1887/122494
https://hdl.handle.net/1887/122494
Autor:
Zhang, Yongqiang, Tachtsidis, Georgios, Schob, Claudia, Koko, Mahmoud, Hedrich, Ulrike B S, Lerche, Holger, Lemke, Johannes R, Haeringen, Arie van, Ruivenkamp, Claudia, Prescott, Trine, Tveten, Kristian, Gerstner, Thorsten, Pruniski, Brianna, DiTroia, Stephanie, VanNoy, Grace E, Rehm, Heidi L, McLaughlin, Heather, Bolz, Hanno J, Zechner, Ulrich, Bryant, Emily
Publikováno v:
Human Molecular Genetics; 12/15/2021, Vol. 30 Issue 24, p2300-2314, 15p
Autor:
Dijck, A. van, Vulto-van Silfhout, A.T., Cappuyns, E., Werf, I.M. van der, Mancini, G.M., Tzschach, A., Bernier, R., Gozes, I., Eichler, E.E., Romano, C., Lindstrand, A., Nordgren, A., Kvarnung, M., Kleefstra, T., Vries, B.B.A. de, Kury, S., Rosenfeld, J.A., Meuwissen, M.E., Vandeweyer, G., Kooy, R.F., Bakshi, M., Wilson, M., Berman, Y., Dickson, R., Fransen, E., Helsmoortel, C., Ende, J. van den, Aa, N. van der, Wijdeven, M.J. van de, Rosenblum, J., Monteiro, F., Kok, F., Quercia, N., Bowdin, S., Dyment, D., Chitayat, D., Alkhunaizi, E., Boonen, S.E., Keren, B., Jacquette, A., Faivre, L., Bezieau, S., Isidor, B., Riess, A., Moog, U., Lynch, S.A., McVeigh, T., Elpeleg, O., Smeland, M.F., Fannemel, M., Haeringen, A. van, Maas, S.M., Veenstra-Knol, H.E., Schouten, M., Willemsen, M.H., Marcelis, C.L., Ockeloen, C., Burgt, I. van der, Feenstra, I., Smagt, J. van der, Jezela-Stanek, A., Krajewska-Walasek, M., Gonzalez-Lamuno, D., Anderlid, B.M., Malmgren, H., Nordenskjold, M., Clement, E., Hurst, J., Metcalfe, K., Mansour, S., Lachlan, K., Clayton-Smith, J., Hendon, L.G., Abdulrahman, O.A., Morrow, E., McMillan, C., Gerdts, J., Peeden, J., Vergano, S.A.S., Valentino, C., Chung, W.K., Ozmore, J.R., Bedrosian-Sermone, S., Dennis, A., Treat, K., Hughes, S.S., Safina, N., Pichon, J.B. le, McGuire, M., Infante, E., Madan-Khetarpal, S., Desai, S., Benke, P., Krokosky, A., Cristian, I., Baker, L., Gripp, K., Stessman, H.A., Eichenberger, J., Jayakar, P., Pizzino, A., Manning, M.A., Slattery, L., ADNP Consortium
Publikováno v:
Biological Psychiatry, 85(4), 287-297. ELSEVIER SCIENCE INC
Biological Psychiatry Volume 85, Issue 4, 15 February 2019, Pages 287-297
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Biological Psychiatry, 85, 4, pp. 287-297
Biological Psychiatry, 85(4), 287. Elsevier USA
Biological psychiatry
Biological Psychiatry, 85, 287-297
Biological psychiatry, 85(4), 287-297. Elsevier USA
Biological Psychiatry, 85(4), 287-297. Elsevier Inc.
Biological Psychiatry Volume 85, Issue 4, 15 February 2019, Pages 287-297
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Biological Psychiatry, 85, 4, pp. 287-297
Biological Psychiatry, 85(4), 287. Elsevier USA
Biological psychiatry
Biological Psychiatry, 85, 287-297
Biological psychiatry, 85(4), 287-297. Elsevier USA
Biological Psychiatry, 85(4), 287-297. Elsevier Inc.
Background In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::517869385daa59216cda03fc628eb520
http://hdl.handle.net/1887/122773
http://hdl.handle.net/1887/122773