An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis

Autor: Seda, M., Geerlings, M.J., Lim, P., Jeyabalan-Srikaran, J., Cichon, A.C., Scambler, P.J., Beales, P.L., Hernandez-Hernandez, V., Stoker, A.W., Jenkins, D.

Publikováno v: Molecular Syndromology, pp. 1-17
Molecular Syndromology, 1-17
STARTPAGE=1;ENDPAGE=17;ISSN=1661-8769;TITLE=Molecular Syndromology

Contains fulltext : 196634.pdf (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d0d94778f20c827e5b7cb63662a8fabc
https://hdl.handle.net/2066/196634

Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect

Autor: Burger, N.B., Bekker, M.N., Kok, E., de Groot, C.J.M., Martin, J.F., Shou, W.N., Scambler, P.J., Lee, Y., Christoffels, V.M., Haak, M.C.

Publikováno v: Burger, N B, Bekker, M N, Kok, E, de Groot, C J M, Martin, J F, Shou, W N, Scambler, P J, Lee, Y, Christoffels, V M & Haak, M C 2015, ' Increased nuchal translucency origins from abnormal lymphatic development and is independent of the presence of a cardiac defect ', Prenatal Diagnosis, vol. 35, no. 13, pp. 1278-1286 . https://doi.org/10.1002/pd.4687
Prenatal Diagnosis, 35(13), 1278-1286
Prenatal Diagnosis, 35(13), 1278-1286. John Wiley and Sons Ltd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8cc5a92be5402bc9f4a226ad57b465f8
https://hdl.handle.net/1887/99584

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Autor: Schmidts, M., Arts, H.H., Bongers, E.M., Yap, Z., Oud, M.M., Antony, D., Duijkers, L., Emes, R.D., Stalker, J., Yntema, J.B., Plagnol, V., Hoischen, A., Gilissen, C., Forsythe, E., Lausch, E., Veltman, J.A., Roeleveld, N., Superti-Furga, A., Kutkowska-Kazmierczak, A., Kamsteeg, E.J., Elçioglu, N., van Maarle, M.C., Graul-Neumann, L.M., Devriendt, K., Smithson, S.F., Wellesley, D., Verbeek, N.E., Hennekam, R.C., Kayserili, H., Scambler, P.J., Beales, P.L., UK10K, Knoers, N.V., Roepman, R., Mitchison, H.M.

Publikováno v: Journal of medical genetics, 50(5), 309-323. BMJ Publishing Group
Journal of Medical Genetics; Vol 50
Journal of Medical Genetics
Journal of Medical Genetics, 50, 309-223
JOURNAL OF MEDICAL GENETICS, 50(5), 309-323. BMJ PUBLISHING GROUP
Journal of Medical Genetics, vol. 50, no. 5, pp. 309-323
Journal of Medical Genetics, 50, 5, pp. 309-223

Contains fulltext : 116495.pdf (Publisher’s version ) (Open Access) BACKGROUND: Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56f4ecae0d50d08988921f47f5a41b9
https://hdl.handle.net/11424/245562

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Partial DiGeorge syndrome in two patients with a 10p rearrangement

Autor: Esch, H. van, Groenen, P.J.T.A., Daw, S., Poffyn, A., Holvoet, M., Scambler, P.J., Fryns, J.P., Ven, W. van de, Devriendt, K.

Publikováno v: Clinical Genetics, 55, 269-276
Clinical Genetics, 55, pp. 269-276

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::29148b5435a5253451b454e553a70a33
http://hdl.handle.net/2066/184833