Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis von Smit, DL, Mensenkamp, AR, Badeloe, S, Breuning, MH, Simon, MEH, Van Spaendonck, KY, Aalfs, CM, Post, JG, Shanley, S, Krapels, IPC, Hoefsloot, LH, Van Moorselaar, RJA, Starink, TM, Bayley, J-P, Frank, J, Van Steensel, MAM, Menko, FH

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Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP) von Nielsen, M, Franken, P F, Reinards, T H C M, Weiss, M M, Wagner, A, van der Klift, H, Kloosterman, S, Houwing-Duistermaat, J J, Aalfs, C M, Ausems, M G E M, Bröcker-Vriends, A H J T, Gomez Garcia, E B, Hoogerbrugge, N, Menko, F H, Sijmons, R H, Verhoef, S, Kuipers, E J, Morreau, H, Breuning, M H, Tops, C M J, Wijnen, J T, Vasen, H F A, Fodde, R, Hes, F J

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Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 von Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C. M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C. M., Poustka, A., Mason, P. J., Dokal, I.

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Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008 von van Rij, MC, de Koning Gans, PAM, Aalfs, CM, Elting, M, Ippel, PF, Maat-Kievit, JA, Vermeer, S, Verschuuren-Bemelmans, CC, van Belzen, MJ, Belfroid, RDM, Losekoot, M, Geraedts, JPM, Roos, RAC, Tibben, A, de Die-Smulders, CEM, Bijlsma, EK

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Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome von Kalff-Suske, Martha, Wild, Anja, Topp, Juliane, Wessling, Martina, Jacobsen, Eva-Maria, Bornholdt, Dorothea, Engel, Hartmut, Heuer, Heike, Aalfs, Cora M., Ausems, Margreet G. E. M., Barone, Rita, Herzog, Andreas, Heutink, Peter, Homfray, Tessa, Gillessen-Kaesbach, Gabriele, König, Rainer, Kunze, Jürgen, Meinecke, Peter, Müller, Dietmar, Rizzo, Renata, Strenge, Sibylle, Superti-Furga, Andrea, Grzeschik, Karl-Heinz

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A comparison of counselee and counselor satisfaction in reproductive genetic counseling von Aalfs, CM, Oort, FJ, de Haes, JCJM, Leschot, NJ, Smets, EMA

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The perceived personal control (PPC) questionnaire as an outcome of genetic counseling: Reliability and validity of the instrument von Smets, Ellen M.A., Pieterse, Arwen H., Aalfs, Cora M., Ausems, Margreet G.E.M., van Dulmen, Alexandra M.

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Atypical progeroid syndrome: An unknown helicase gene defect? von Ruijs, M.W.G., van Andel, R.N.J., Oshima, J., Madan, K., Nieuwint, A.W.M., Aalfs, C.M.

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Referral for genetic counselling during pregnancy: limited alertness and awareness about genetic risk factors among GPs von Aalfs, Cora M, Smets, Ellen MA, de Haes, Hanneke CJM, Leschot, Nico J

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Counselor–counselee interaction in reproductive genetic counseling: Does a pregnancy in the counselee make a difference? von Aalfs, Cora M., Oort, Frans J., de Haes, Hanneke C.J.M., Leschot, Nico J., Smets, Ellen M.A.

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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 von Jakubowska, A, Antoniou, A, Hamann, U, Scott, RJ, McGuffog, L, Healy, S, Sinilnikova, OM, Flugelman, A, Andrulis, IL, Glendon, G, Thomassen, M, Paligo, M, Aretini, P, Kantala, J, Aroer, B, Von Wachenfeldt, A, Loman, N, Kristoffersson, U, Rosenquist, R, Stenmark-Askmalm, M, Melin, B, Nathanson, KL, Domchek, SM, Byrski, T, Huzarski, T, Gronwald, J, Cybulski, C, Osorio, A, Cajal, TR, Tsitlaidou, M, Benitez, J, Gilbert, M, Rookus, M, Aalfs, CM, Kluijt, I, Meijers-Heijboer, HEJ, Oosterwijk, JC, Blok, MJ, van den Ouweland, AMW, van der Luijt, RB, Devilee, P, Easton, DF, Frost, D, Platte, R, Ellis, SD, Fineberg, E, Evans, DG, Lalloo, F, Eeles, R, Jacobs, C, Davidson, R, Eccles, D, Cole, T, 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, JP, Vennin, P, Muller, D, Fricker, JP, Johannsson, O, 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, Beesley, J, Chen, X, Rebbeck, T, Couch, F, Wang, X, Lindor, N, Fredericksen, Z, Pankratz, VS, Peterlongo, P, Fortuzzi, S, Mai, PL, Loud, JT, Lubinski, J, CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer, on behalf of, Claes, Kathleen, De Leeneer, Kim, Poppe, Bruce, De Paepe, Anne

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Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype von Bijlsma, E K, Aalfs, C M, Sluijter, S, Luttikhuis, M E M Oude, Trembath, R C, Hoovers, J M N, Hennekam, R C M

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Genetic counseling for familial conditions during pregnancy: an analysis of patient characteristics von Aalfs, CM, Mollema, ED, Oort, FJ, De Haes, JCJM, Leschot, NJ, Smets, EMA

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Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts von PUTNAM, E. A, PARK, E.-S, AALFS, C. M, HENNEKAM, R. C. M, MILEWICZ, D. M

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Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia von Deutz-Terlouw, Piette P., Losekoot, Monique, Aalfs, Cora M., Hennekam, Raoul C.M., Bakker, Egbert

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The FANCM:p.Arg658 truncating variant is associated with risk of triple-negative breast cancer von Figlioli, G, Bogliolo, M, Catucci, I, Caleca, L, Lasheras, SV, Pujol, R, Kiiski, JI, Muranen, TA, Barnes, DR, Dennis, J, Michailidou, K, Bolla, MK, Leslie, G, Aalfs, CM, Balleine, R, Baxter, R, Braye, S, Carpenter, J, Dahlstrom, J, Forbes, J, Lee, CS, Marsh, D, Morey, A, Pathmanathan, N, Scott, R, Simpson, P, Spigelman, A, Wilcken, N, Yip, D, Zeps, N, Adank, MA, Adlard, J, Agata, S, Cadoo, K, Agnarsson, BA, Ahearn, T, Aittomäki, K, Ambrosone, CB, Andrews, L, Anton-Culver, H, Antonenkova, NN, Arndt, V, Arnold, N, Aronson, KJ, Arun, BK, Asseryanis, E, Auber, B, Auvinen, P, Azzollini, J, Balmaña, J, Barkardottir, RB, Barrowdale, D, Barwell, J, Beane Freeman, LE, Beauparlant, CJ, Beckmann, MW, Behrens, S, Benitez, J, Berger, R, Bermisheva, M, Blanco, AM, Blomqvist, C, Bogdanova, NV, Bojesen, A, Bojesen, SE, Bonanni, B, Borg, A, Brady, AF, Brauch, H, Brenner, H, Brüning, T, Burwinkel, B, Buys, SS, Caldés, T, Caliebe, A, Caligo, MA, Campa, D, Campbell, IG, Canzian, F, Castelao, JE, Chang-Claude, J, Chanock, SJ, Claes, KBM, Clarke, CL, Collavoli, A, Conner, TA, Cox, DG, Cybulski, C, Czene, K, Daly, MB, de la Hoya, M, Devilee, P, Diez, O, Ding, YC, Dite, GS, Ditsch, N, Domchek, SM, Dorfling, CM, dos-Santos-Silva, I, Durda, K

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Further delineation of the partial proximal trisomy 10q syndrome von Aalfs, C M, Hoovers, J M, Nieste-Otter, M A, Mannens, M M, Hennekam, R C, Leschot, N J

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Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome? von Aalfs, C M, Oosterwijk, J C, van Schooneveld, M J, Begeman, C J, Wabeke, K B, Hennekam, R C

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Posterior tibial nerve somatosensory evoked potentials in slowly progressive spastic paraplegia : a comparative study with clinical signs von AALFS, C. M, KOELMAN, J. H. T. M, ARAMIDEH, M, BOUR, L. J, BRUYN, R. P. M, ONGERBOER DE VISSER, B. W

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SOMATOSENSORY EVOKED-POTENTIALS, SENSORY NERVE POTENTIALS AND SENSORY NERVE-CONDUCTION IN HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-I von ARAMIDEH, M, HOOGENDIJK, JE, AALFS, CM, MEYJES, FEP, DEVISSER, M, DEVISSER, BWO

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