Výsledky vyhledávání - "D.F.C.M. Smeets"

Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease

Autor: T. Gili, V. Catala, A. Plaja, C. Mediano, T. Vendrell, J.M.J.C. Scheres, D.F.C.M. Smeets, E. Sarret

Publikováno v: American Journal of Medical Genetics, 98, 3, pp. 216--23
American Journal of Medical Genetics, 98, 216--23

Item does not contain fulltext We present three patients with variegated aneuploidy and premature centromere division (PCD), a rare chromosomal abnormality in humans. Comparison of these three and eight other patients with variegated aneuploidy relat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ee29756f0f0888cc5c94bb08f62f01f
https://doi.org/10.1002/1096-8628(20010122)98:3<216::AID-AJMG1091>3.0.CO

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Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1

Autor: L.P.W.J. van den Heuvel, Patrick Concannon, C.J.A.M. van der Burgt, M.J.L. Ligtenberg, Karen M. Cerosaletti, B.G.M. van Engelen, Corry M.R. Weemaes, D.F.C.M. Smeets, F.J.M. Gabreëls, J.A.P. Hiel

Publikováno v: Journal of Medical Genetics, 38, 6, pp. E19-E19
Journal of Medical Genetics, 38, E19-E19
Scopus-Elsevier

Editor—Nijmegen breakage syndrome (NBS) is a rare autosomal recessive chromosomal instability disorder characterised by microcephaly, immunodeficiency, x ray hypersensitivity, and predisposition to malignancy. The gene responsible for NBS, NBS1 , i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16b8e555560b87604512f4a6f9a19e85
https://hdl.handle.net/2066/144682

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Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care

Autor: G.J.C.M. Van Buggenhout, J.C.M. Trommelen, A. Schoenmaker, C. De Bal, J.J.M.C. Verbeek, D.F.C.M. Smeets, H.H. Ropers, K. Devriendt, B.C.J. Hamel, J.P. Fryns

Publikováno v: American Journal of Medical Genetics, 85, 376-384
American Journal of Medical Genetics, 85, pp. 376-384

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46ef3709466f1a67b74cdad41574869b
https://doi.org/10.1002/(SICI)1096-8628(19990806)85:4<376::AID-AJMG14>3.0.CO

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Nijmegen Breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation

Autor: Michèle Vuillaume, Janet Hall, D.F.C.M. Smeets, K.H. Chrzanowska, W. Jongmans, K. Sperling

Publikováno v: Molecular and Cellular Biology, 17, 5016-5022
Molecular and Cellular Biology, 17, 9, pp. 5016-5022

The functionality of the p53-mediated pathway, activated in response to DNA damage, has been assessed in primary fibroblast cell cultures and Epstein-Barr virus-transformed lymphoblastoid cell lines derived from Nijmegen breakage syndrome (NBS) patie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::597c9f8e939de0c39391310c96684505
http://hdl.handle.net/2066/24529

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