Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social–emotional functioning in young adults with Turner syndrome

Autor: Freriks, K., Verhaak, C.M., Sas, T.C.J., Menke, L.A., Wit, J.M., Otten, B.J., de Muinck Keizer-Schrama, S.M.P.F., Smeets, D.F.C.M., Netea-Maier, R.T., Hermus, A.R.M.M., Kessels, R.P.C., Timmers, H.J.L.M.

Publikováno v: In Hormones and Behavior March 2015 69:59-67

Inhibition of Gsk3β in cartilage induces osteoarthritic features through activation of the canonical Wnt signaling pathway

Autor: Miclea, R.L. ^†, Siebelt, M. ^‡, Finos, L. ^§, Goeman, J.J. ^§, Löwik, C.W.G.M. ^∥, Oostdijk, W. ^†, Weinans, H. ^‡, Wit, J.M. ^†, Robanus-Maandag, E.C. ^¶, Karperien, M. ^#

Publikováno v: In Osteoarthritis and Cartilage 2011 19(11):1363-1372

No association between glucocorticoid receptor polymorphisms and long-term respiratory outcome after very preterm birth

Autor: Baas, E.M., Romijn, M., Pal, S.M. van der, Vrijlandt, E.J.L.E., Rotteveel, J., Finken, M.J.J., Hille, E.T.M., Groot, C.H. de, Kloosterboer-Boerrigter, H., Ouden, A.L. den, Rijpstra, A., Verloove-Vanhorick, S.P., Vogelaar, J.A., Kok, J.H., Ilsen, A., Lans, M. van der, Boelen-van der Loo, W.J.C., Lundqvist, T., Heymans, H.S.A., Duiverman, E.J., Geven, W.B., Duiverman, M.L., Geven, L.I., Mulder, A.L.M., Gerver, A., Kollee, L.A.A., Reijmers, L., Sonnemans, R., Wit, J.M., Dekker, F.W., Weisglas-Kuperus, N., Keijzer-Veen, M.G., Heijden, A.J. van der, Goudoever, J.B. van, Weissenbruch, M.M. van, Cranendonk, A., Delemarre-van de Waal, H.A., Groot, L. de, Samsom, J.F., Vries, L.S. de, Rademaker, K.J., Moerman, E., Voogsgeerd, M., Kleine, M.J.K. de, Andriessen, P., Dielissen-van Helvoirt, C.C.M., Mohamed, I., Straaten, H.L.M. van, Baerts, W., Slots-Kloosterboer, G.W.V., Tuller-Pikkemaat, E.M.J., Ens-Dokkum, M.H., Steenbrugge, G.J. van, Dutch POPS 19 Col

Publikováno v: Endocrine, 73(1), 226-229. Humana Press
Endocrine, 73(1), 226-229. SPRINGER
Dutch POPS-19 Collaborative Study Group 2021, ' No association between glucocorticoid receptor polymorphisms and long-term respiratory outcome after very preterm birth ', Endocrine, vol. 73, no. 1, pp. 226-229 . https://doi.org/10.1007/s12020-021-02672-7

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3c6999bca8df5ae7f2a6c5ae4733f1b
https://pure.amc.nl/en/publications/no-association-between-glucocorticoid-receptor-polymorphisms-and-longterm-respiratory-outcome-after-very-preterm-birth(45f86ed1-7bb6-4a65-b7eb-9d9022b9979a).html

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Autor: Lin, Y.C., Niceta, M., Muto, V., Vona, B., Pagnamenta, A.T., Maroofian, R., Beetz, C., Duyvenvoorde, H. van, Dentici, M.L., Lauffer, P., Vallian, S., Ciolfi, A., Pizzi, S., Bauer, P., Gruning, N.M., Bellacchio, E., Fattore, A. del, Petrini, S., Shaheen, R., Tiosano, D., Halloun, R., Pode-Shakked ben, Albayrak, H.M., Isik, E., Wit, J.M., Dittrich, M., Freire, B.L., Bertola, D.R., Jorge, A.A.L., Barel, O., Sabir, A.H., Tenaiji, A.M.J. al, Taji, S.M., Al-Sannaa, N., Al-Abdulwahed, H., Digilio, M.C., Irving, M., Anikster, Y., Bhavani, G.S.L., Girisha, K.M., Haaf, T., Taylor, J.C., Dallapiccola, B., Alkuraya, F.S., Yang, R.B., Tartaglia, M., Genomics England Res Consortium

Publikováno v: American Journal of Human Genetics, 108(1), 115-133. CELL PRESS
American journal of human genetics, 108(1), 115-133. Cell Press
Am J Hum Genet

Summary Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for a variety of growth factors. Here we report that bi-allelic inact

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3485b0a21a8d7dc54b6eb09e83fac7aa
https://hdl.handle.net/1887/3195923

Idiopathic short stature: Management and growth hormone treatment

Autor: Wit, J.M., Reiter, E.O., Ross, J.L., Saenger, P.H., Savage, M.O., Rogol, A.D., Cohen, P.

Publikováno v: In Growth Hormone & IGF Research 2008 18(2):111-135