Showing 1 - 11 results of 11 for search 'Van Den Ouweland, A', query time: 0.05s
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1
FGFs, their receptors, and human limb malformations: clinical and molecular correlations. by Wilkie, A, Patey, S, Kan, S, van den Ouweland, A, Hamel, B
Published 2002Journal article -
2
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. by Rannan-Eliya, S, Taylor, I, De Heer, I, Van Den Ouweland, A, Wall, SA, Wilkie, A
Published 2004Journal article -
3
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 by Van Den Elzen, M, Twigg, S, Goos, J, Hoogeboom, A, Van Den Ouweland, A, Wilkie, A, Mathijssen, I
Published 2014Journal article -
4
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. by van den Elzen, M, Twigg, SR, Goos, J, Hoogeboom, A, van den Ouweland, A, Wilkie, A, Mathijssen, I
Published 2014Journal article -
5
Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome by Fenwick, A, Goos, J, Rankin, J, Lord, H, Lester, T, Hoogeboom, A, Van Den Ouweland, A, Wall, SA, Mathijssen, I, Wilkie, A
Published 2014Journal article -
6
Identification of intragenic exon deletions and duplication of TCF12 by whole genome or targeted sequencing as a cause of TCF12-related craniosynostosis by Goos, J, Fenwick, A, Swagemakers, S, McGowan, S, Knight, S, Twigg, S, Hoogeboom, A, van Dooren, M, Magielsen, F, Wall, S, Mathijssen, I, Wilkie, A, van der Spek, P, van den Ouweland, A
Published 2016Journal article -
7
Gain-of-function mutations in ZIC1 are associated with coronal craniosynostosis and learning disability by Twigg, S, Forecki, J, Goos, J, Richardson, I, Hoogeboom, A, van den Ouweland, A, Swagemakers, S, Lequin, M, Van Antwerp, D, McGowan, S, Westbury, I, Miller, K, Wall, S, van der Spek, P, Mathijssen, I, Pauws, E, Merzdorf, C, Wilkie, A
Published 2015Journal article -
8
Identification of mutations in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia by Goos, J, Swagemakers, S, Twigg, S, van Dooren, M, Hoogeboom, A, Beetz, C, Günther, S, Magielsen, F, Ockeloen, C, Ramos-Arroyo, M, Pfundt, R, Yntema, H, van der Spek, P, Stanier, P, Wieczorek, D, Wilkie, A, van den Ouweland, A, Mathijssen, I, Hurst, J
Published 2017Journal article -
9
Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. by Hamdi, Y, Soucy, P, Adoue, V, Michailidou, K, Canisius, S, Lemaçon, A, Droit, A, Andrulis, I, Anton-Culver, H, Arndt, V, Baynes, C, Blomqvist, C, Bogdanova, N, Bojesen, S, Bolla, M, Bonanni, B, Borresen-Dale, A, Brand, J, Brauch, H, Brenner, H, Broeks, A, Burwinkel, B, Chang-Claude, J, NBCS Collaborators, Couch, F, Cox, A, Cross, S, Czene, K, Darabi, H, Dennis, J, Devilee, P, Dörk, T, Dos-Santos-Silva, I, Eriksson, M, Fasching, P, Figueroa, J, Flyger, H, García-Closas, M, Giles, G, Goldberg, M, González-Neira, A, Grenaker-Alnæs, G, Guénel, P, Haeberle, L, Haiman, C, Hamann, U, Hallberg, E, Hooning, M, Hopper, J, Jakubowska, A, Jones, M, Kabisch, M, Kataja, V, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Maranian, M, Margolin, S, Marme, F, Milne, R, Neuhausen, S, Nevanlinna, H, Neven, P, Olswold, C, Peto, J, Plaseska-Karanfilska, D, Pylkäs, K, Radice, P, Rudolph, A, Sawyer, E, Schmidt, M, Shu, X, Southey, M, Swerdlow, A, Tollenaar, R, Tomlinson, I, Torres, D, Truong, T, Vachon, C, Van Den Ouweland, A, Wang, Q, Winqvist, R, kConFab/Aocs Investigators, Zheng, W, Benitez, J, Chenevix-Trench, G, Dunning, A, Pharoah, P, Kristensen, V, Hall, P, Easton, D, Pastinen, T, Nord, S, Simard, J
Published 2016Journal article -
10
An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression by Wyszynski, A, Hong, C, Lam, K, Michailidou, K, Lytle, C, Yao, S, Zhang, Y, Bolla, M, Wang, Q, Dennis, J, Hopper, J, Southey, M, Schmidt, M, Broeks, A, Muir, K, Lophatananon, A, Fasching, P, Beckmann, M, Peto, J, Dos-Santos-Silva, I, Sawyer, E, Tomlinson, I, Burwinkel, B, Marme, F, Guénel, P, Truong, T, Bojesen, S, Nordestgaard, B, González-Neira, A, Benitez, J, Neuhausen, S, Brenner, H, Dieffenbach, A, Meindl, A, Schmutzler, R, Brauch, H, Nevanlinna, H, Khan, S, Matsuo, K, Ito, H, Dörk, T, Bogdanova, N, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, V, Wu, A, Van Den Berg, D, Lambrechts, D, Wildiers, H, Chang-Claude, J, Rudolph, A, Radice, P, Peterlongo, P, Couch, F, Olson, J, Giles, G, Milne, R, Haiman, C, Henderson, B, Dumont, M, Teo, S, Wong, T, Kristensen, V, Zheng, W, Long, J, Winqvist, R, Pylkäs, K, Andrulis, I, Knight, J, Devilee, P, Seynaeve, C, García-Closas, M, Figueroa, J, Klevebring, D, Czene, K, Hooning, M, van den Ouweland, A, Darabi, H, Shu, X, Gao, Y, Cox, A, Blot, W, Signorello, L, Shah, M, Kang, D, Choi, J, Hartman, M, Miao, H, Hamann, U, Jakubowska, A, Lubinski, J, Sangrajrang, S, McKay, J, Toland, A, Yannoukakos, D, Shen, C, Wu, P, Swerdlow, A, Orr, N, Simard, J, Pharoah, P, Dunning, A, Chenevix-Trench, G, Hall, P, Bandera, E, Amos, C, Ambrosone, C, Easton, D, Cole, M
Published 2016Journal article -
11
Genetic predisposition to in situ and invasive lobular carcinoma of the breast by Sawyer, E, Roylance, R, Petridis, C, Brook, M, Nowinski, S, Papouli, E, Fletcher, O, Pinder, S, Hanby, A, Kohut, K, Gorman, P, Caneppele, M, Peto, J, Dos Santos Silva, I, Johnson, N, Swann, R, Dwek, M, Perkins, K, Gillett, C, Houlston, R, Ross, G, De Ieso, P, Southey, M, Hopper, J, Provenzano, E, Apicella, C, Wesseling, J, Cornelissen, S, Keeman, R, Fasching, P, Jud, S, Ekici, AB, Beckmann, M, Kerin, M, Marme, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Guénel, P, Truong, T, Laurent-Puig, P, Kerbrat, P, Bojesen, SE, Nordestgaard, BG, Nielsen, S, Flyger, H, Milne, R, Perez, J, Menéndez, P, Benitez, J, Brenner, H, Dieffenbach, A, Arndt, V, Stegmaier, C, Meindl, A, Lichtner, P, Schmutzler, R, Lochmann, M, Brauch, H, Fischer, H, Ko, Y, Nevanlinna, H, Muranen, T, Aittomäki, K, Blomqvist, C, Bogdanova, N, Dörk, T, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V, Hartikainen, J, Chenevix-Trench, G, Investigators, K, Lambrechts, D, Weltens, C, Van Limbergen, E, Hatse, S, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Radice, P, Peterlongo, P, Bonanni, B, Volorio, S, Giles, G, Severi, G, Baglietto, L, McLean, C, Haiman, C, Henderson, B, Schumacher, F, Le Marchand, L, Simard, J, Goldberg, MS, Labrèche, F, Dumont, M, Kristensen, V, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Kauppila, S, Andrulis, I, Knight, J, Glendon, G, Mulligan, A, Devillee, P, Tollenaar, R, Seynaeve, C, Kriege, M, Figueroa, J, Chanock, S, Sherman, M, Hooning, M, Hollestelle, A, Van Den Ouweland, A, Deurzen, V, Li, J, Czene, K, Humphreys, K, Cox, A, Cross, S, Reed, M, Shah, M, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Swerdlow, A, Ashworth, A, Orr, N, Schoemaker, M, Couch, F, Hallberg, E, González-Neira, A, Pita, G, Alonso, MR, Tessier, D, Vincent, D, Bacot, F, Bolla, M, Wang, Q, Dennis, J, Michailidou, K, Dunning, A, Hall, P, Easton, D, Pharoah, P, Schmidt, M, Tomlinson, I, Garcia-Closas, M
Published 2014Journal article