Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome

Autor: Menke, L.A., Gardeitchik, T., Hammond, P., Heimdal, K.R., Houge, G., Hufnagel, S.B., Ji, J.L., Johansson, S., Kant, S.G., Kinning, E., Leon, E.L., Newbury-Ecob, R., Paolacci, S., Pfundt, R., Ragge, N.K., Rinne, T., Ruivenkamp, C., Saitta, S.C., Sun, Y., Tartaglia, M., Terhal, P.A., Essen, A.J. van, Vigeland, M.D., Xiao, B., Hennekam, R.C., DDD Study

Publikováno v: American Journal of Medical Genetics. Part A, 176(4), 862. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 176, 4, pp. 862-876
American journal of medical genetics. Part A, 176(4), 862-876. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 176, 862-876
American Journal of Medical Genetics Part A, 176(4), 862-876
American Journal of Medical Genetics. Part A, 176(4), 862-876. Wiley

Contains fulltext : 190439.pdf (Publisher’s version ) (Closed access) In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein-Taybi syndrome (RSTS). Here we report on ano

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c8d35ef1dabe1fdc14ddadc51df7e95
https://dspace.library.uu.nl/handle/1874/364695

Heterozygous germline mutations in the P53 homolog P63 are causes of the EEC syndrome

Autor: Celli, J., Duijf, P.H., Hamel, B.C.J., Bamshad, M., Kramer, B.M., Smits, A.P.T., Newbury-Ecob, R., Hennekam, R.C.M., Buggenhout, G.J.C.M. van, Haeringen, A. van, Woods, C.G., Essen, A.J. van, Waal, R.M.W. de, Vriend, G., Haber, D.A., Yang, A., McKeon, F., Brunner, H.G., Bokhoven, J.H.L.M. van

Publikováno v: Cell, 99, pp. 143-153
Cell, 99, 143-153

Item does not contain fulltext

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d54eeaff280876e0ee81f433a01b1002
https://hdl.handle.net/2066/166782

Two cases of the caudal duplication anomaly including a discordant monozygotic twin

Autor: Kroes, H.Y., Takahashi, M., Zijlstra, R.J., Baert, J.A.L.L., Kooi, K.A., Hofstra, R.M.W., Essen, A.J. van

Publikováno v: American Journal of Medical Genetics. Part A; 1 November 2002, Vol. 112 Issue: 4 p390-393, 4p

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

Autor: Hoogerwaard, E.M., Wouw, P.A. van der, Wilde, A.A.M., Bakker, E., Ippel, P.F., Oosterwijk, J.C., Majoor-Krakauer, D.F., Essen, A.J. van, Leschot, N.J., Visser, M. de

Publikováno v: Neuromuscular Disorders; 1999, Vol. 9 Issue: 5 p347-351, 5p