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scopus: 6602878857

Dooren, M.F. van

(Marieke van Dooren)


patient chromosome study mutation analysis defect deletion anomaly genet ea /tef cancer syndrome development genetic diaphragmatic hernia region association result vessel diaphragmatic tumor university j med genet research family hospital birth brca 1 hernia control children chromosomal netherland factor department failure number author table center genetics service manuscript breast breast cancer risk carrier airway linkage vacterl cytogenetic phenotype network translocation alcohol candidate atresia signal probe rotterdam angiogenesi signi paraganglioma pregnancy abnormality identi fied figure right mother genomic feature section patient 1 reference nih-pa vasculature blood artery retardation identi patient 2 downloaded




10 Most Recent Publications

SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas (Article)
Korpershoek, E. Favier, J. Dooren, M.F. van Herder, W.W. de Tissier, F. Plouin, P.F. Nederveen, F.H. van Dinjens, W.N.M. Gimenez-Roqueplo, A.P. Krijger, R.R. de Gaal, J. Burnichon, N. Gessel, B. van Oudijk, L. Badoual, C. Gadessaud, N. Venisse, A. Bayley, J.P.
2011-09-01
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2 (Article)
Osorio, A. Milne, R.L. Konstantopoulou, I. Hogervorst, F.B.L. Verhoef, S. Dooren, M.F. van Jager, A. Ausems, M.G.E.M. Aalfs, C. Asperen, C.J. van Vreeswijk, M.P. Waisfisz, Q. Pallás-Alonso, C.R. Roozendaal, C.E.P. van Ligtenberg, M. Easton, D.F. Peock, S. Cook, M.S. Oliver, C.T. Frost, D. Curzon, B. Evans, D.G. Lalloo, F. Pita, G. Eeles, R. Izatt, L. Davidson, R. Adlard, J.W. Eccles, D. Ong, K.R. Douglas, F. Downing, S. Brewer, C. Walker, L. Peterlongo, P. Nevanlinna, H. Aittomäki, K. Couch, F.J. Fredericksen, Z. Lindor, N.M. Godwin, A.K. Isaacs, C. Caligo, M.A. Loman, N. Jernström, H. Teulé, A. Barbany-Bustinza, G. Liljegren, A. Ehrencrona, H. Stenmark-Askmalm, M. Feliubadaló, L. Manoukian, S. Peissel, B. Zaffaroni, D. Bonanni, B. Fortuzzi, S. Nathanson, K.L. Johannsson, O.T. Chenevix-Trench, G. Chen, X.C. Beesley, J. Spurdle, A.B. Sinilnikova, O. Healey, S. McGuffog, L. Antoniou, A.C. Brunet, J. Domchek, S.M. Radice, P. Benítez, J. Rebbeck, T.R. Lasa, A.
2011-05-01
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype (Article)
Kleefstra, T. Zelst-Stams, W.A. van Wilson, M. McGaughran, J. Zenker, M. Adam, M.P. Innes, M. Davies, C. González-Meneses López, A. Casalone, R. Weber, A. Brueton, L.A. Nillesen, W.M. Delicado Navarro, A. Palomares Bralo, M. Venselaar, H. Rauch, A. Stegmann, S.P.A. Yntema, H.G. Bokhoven, H. van Brunner, H.G. Cormier-Daire, V. Houge, G. Foulds, N. Dooren, M.F. van Willemsen, M.H. Pfundt, R. Turner, A.
2009-09-01
Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: Case report (Article)
Vree, P.J.P. de Simon, M.E.H. Dooren, M.F. van Stoevelaar, G.H.T. Hilkmann, J.T.W. Rongen, M.A. Huijbregts, G.C.M. Verkerk, J.H.M. Poddighe, P.
2009-08-27
Premature ovarian failure and gene polymorphisms (Article)
Dooren, M.F. van Bertoli Avella, A.M. Oldenburg, R.
2009-08-01
A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus (Article)
Oldenburg, R. Dooren, M.F. van Graaf, B.M. de Simons, E.J. Govaerts, L.C. Swagemakers, S.M.A. Verkerk, J.M.H. Oostra, B.A. Bertoli Avella, A.M.
2008-12-01
Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association (Article)
Jong, E.M. de Felix, J.F. Deurloo, J.A. Dooren, M.F. van Aronson, D.C. Torfs, C.P. Heij, H.A. Tibboel, D.
2008-03-01
Environmental factors in the etiology of esophageal atresia and congenital diaphragmatic hernia: Results of a case-control study (Article)
Felix, J.F. Dooren, M.F. van Klaassens, M. Hop, W.C.J. Torfs, C.P. Tibboel, D.
2008-03-01
Congenital diaphragmatic hernia associated with duplication of 11q23-qter. (Article)
Klaassens, M. Scott, D.A. Lee, B. Tibboel, D. Klein, J.E.M.M. de Dooren, M.F. van Hochstenbach, R. Eussen, B.H.J. Cai, W.W. Galjaard, R-J.H. Wouters, C. Poot, M. Laudij, J.A.M.
2006-07-15
Distal angiogenesis: a new concept for lung vascular morphogenesis. (Article)
Parera, M.C. Dooren, M.F. van Kempen, M. van Krijger, R.R. de Grosveld, F.G. Tibboel, D. Rottier, R.
2005-01-01