Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene

di LAAN, L, VAN DEN OUWELAND, A M W, BAKKER, P, HALLEY, D, CATSMAN-BERREVOET..., C
Pubblicazione 1999

A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature

di Aydemirli, M. D., van der Tuin, K., Hes, F. J., van den Ouweland, A. M. W., van Wezel, T., Kapiteijn, E., Morreau, H.
Pubblicato in Fam Cancer (2019)

A prospective 10 year follow up study of patients with neurofibromatosis type 1

di Cnossen, M, de Goede-Bolder, A, van den Broek, K M, Waasdorp, C, Oranje, A, Stroink, H, Simonsz, H, van den Ouweland, A M W, Halley, D, Niermeijer, M
Pubblicazione 1998

Screening for the fragile X syndrome among the mentally retarded: a clinical study

di de Vries, B. B A, Mohkamsing, S., van den Ouweland, A. M W, Mol, E., Gelsema, K., van Rijn, M., Tibben, A., Halley, D., Duivenvoorden, H., Oostra, B., Niermeijer, M.
Pubblicazione 1999

Two polymorphisms at the DXS539 locus

di Van Den Hurk, J.A.J.M., Dreesen, J.C.F.M., Van Den Berg, H., Van Bennekom, C.A., Van Den Ouweland, A.M.W., Van Oost, B.A.
Pubblicazione 1991

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

di Eussen, B., Bartalini, G., Bakker, L., Balestri, P., Di, L, Van Hemel, J. O, Dauwerse, H., van den Ouweland, A. M W, Ris-Stalpers, C., Verhoef, S., Halley, D., Fois, A.
Pubblicazione 2000

Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear β-catenin expression

di Koppert, L B, van der Velden, A W, van de Wetering, M, Abbou, M, van den Ouweland, A M W, Tilanus, H W, Wijnhoven, B P L, Dinjens, W N M
Pubblicazione 2004

Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

di van den Elzen, M E P, Twigg, S R F, Goos, J A C, Hoogeboom, A J M, van den Ouweland, A M W, Wilkie, A O M, Mathijssen, I M J
Pubblicazione 2014

Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex

di Overwater, I. E., Verhaar, B. J. H., Lingsma, H. F., Bindels-de Heus, G. C. B., van den Ouweland, A. M. W., Nellist, M., ten Hoopen, L. W., Elgersma, Y., Moll, H. A., de Wit, M. C. Y.
Pubblicato in J Neurol (2016)

Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers

di Goverde, A., Spaander, M. C. W., Nieboer, D., van den Ouweland, A. M. W., Dinjens, W. N. M., Dubbink, H. J., Tops, C. J., ten Broeke, S. W., Bruno, M. J., Hofstra, R. M. W., Steyerberg, E. W., Wagner, A.
Pubblicato in Fam Cancer (2017)

A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families

di Peelen, T., van Vliet, M., Petrij-Bosch, A., Mieremet, R., Szabo, C., van den Ouweland, A. M. W., Hogervorst, F., Brohet, R., Ligtenberg, M. J. L., Teugels, E., van der Luijt, R., van der Hout, A. H., Gille, J. J. P., Pals, G., Jedema, I., Olmer, R., van Leeuwen, I., Newman, B., Plandsoen, M., van der Est, M., Brink, G., Hageman, S., Arts, P. J. W., Bakker, M. M., Willems, H. W., van der Looij, E., Neyns, B., Bonduelle, M., Jansen, R., Oosterwijk, J. C., Sijmons, R., Smeets, H. J. M., van Asperen, C. J., Meijers-Heijboer, H., Klijn, J. G. M., de Greve, J., King, M.-C., Menko, F. H., Brunner, H. G., Halley, D., van Ommen, G.-J. B., Vasen, H. F. A., Cornelisse, C. J., van 'tVeer, L. J., de Knijff, P., Bakker, E., Devilee, P.
Pubblicazione 1997

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study

di Jakubowska, A, Rozkrut, D, Antoniou, A, Hamann, U, Scott, R J, McGuffog, L, Healy, S, Sinilnikova, O M, Rennert, G, Lejbkowicz, F, Flugelman, A, Andrulis, I L, Glendon, G, Ozcelik, H, Thomassen, M, Paligo, M, Aretini, P, Kantala, J, Aroer, B, von Wachenfeldt, A, Liljegren, A, Loman, N, Herbst, K, Kristoffersson, U, Rosenquist, R, Karlsson, P, Stenmark-Askmalm, M, Melin, B, Nathanson, K L, Domchek, S M, Byrski, T, Huzarski, T, Gronwald, J, Menkiszak, J, Cybulski, C, Serrano, P, Osorio, A, Cajal, T R, Tsitlaidou, M, Benítez, J, Gilbert, M, Rookus, M, Aalfs, C M, Kluijt, I, Boessenkool-Pape, J L, Meijers-Heijboer, H E J, Oosterwijk, J C, van Asperen, C J, Blok, M J, Nelen, M R, van den Ouweland, A M W, Seynaeve, C, van der Luijt, R B, Devilee, P, Easton, D F, Peock, S, Frost, D, Platte, R, Ellis, S D, Fineberg, E, Evans, D G, Lalloo, F, Eeles, R, Jacobs, C, Adlard, J, Davidson, R, Eccles, D, Cole, T, Cook, J, Godwin, A, Bove, B, Stoppa-Lyonnet, D, Caux-Moncoutier, V, Belotti, M, Tirapo, C, Mazoyer, S, Barjhoux, L, Boutry-Kryza, N, Pujol, P, Coupier, I, Peyrat, J-P, Vennin, P, Muller, D, Fricker, J-P, Venat-Bouvet, L, Johannsson, O Th, Isaacs, C, Schmutzler, R, Wappenschmidt, B, Meindl, A, Arnold, N, Varon-Mateeva, R, Niederacher, D, Sutter, C, Deissler, H, Preisler-Adams, S, Simard, J, Soucy, P, Durocher, F, Chenevix-Trench, G, Beesley, J, Chen, X, Rebbeck, T, Couch, F, Wang, X, Lindor, N, Fredericksen, Z, Pankratz, V S, Peterlongo, P, Bonanni, B, Fortuzzi, S, Peissel, B, Szabo, C, Mai, P L, Loud, J T, Lubinski, J
Pubblicazione 2012