Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome von HEARLE, Nicholas, SCHUMACHER, Valerie, TRIMBATH, Jill D, GIARDIELLO, Francis M, GRUBER, Stephen B, OFFERHAUS, G. Johan A, DE ROOIJ, Felix W. M, WILSON, J. H. Paul, HANSMANN, Anika, MÖSLEIN, Gabriela, ROYER-POKORA, Brigitte, TILMANVOGEL, MENKO, Fred H, PHILLIPS, Robin K. S, SPIGELMAN, Allan D, HOULSTON, Richard S, OLSCHWANG, Sylviane, BOARDMAN, Lisa A, GILLE, Johan J. P, KELLER, Josbert J, WESTERMAN, Anne Marie, SCOTT, Rodney J, LIM, Wendy

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new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene von Lim, Derek H.K, Rehal, Pauline K, Nahorski, Michael S, Macdonald, Fiona, Claessens, Tijs, Van Geel, Michel, Gijezen, Lieke, Gille, Johan J.P, Giraud, Sophie, Richard, Stephane, van Steensel, Maurice, Menko, Fred H, Maher, Eamonn R

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Towards a balanced view of Arctic shipping: estimating economic impacts of emissions from increased traffic on the Northern Sea Route von Yumashev, Dmitry, van Hussen, Karel, Gille, Johan, Whiteman, Gail

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Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion von Correa-da-Silva, Felipe, Carter, Jenny, Wang, Xin-Yuan, Sun, Rui, Pathak, Ekta, Kuhn, José Manuel Monroy, Schriever, Sonja C., Maya-Monteiro, Clarissa M., Jiao, Han, Kalsbeek, Martin J., Moraes-Vieira, Pedro M. M., Gille, Johan J. P., Sinnema, Margje, Stumpel, Constance T. R. M., Curfs, Leopold M. G., Stenvers, Dirk Jan, Pfluger, Paul T., Lutter, Dominik, Pereira, Alberto M., Kalsbeek, Andries, Fliers, Eric, Swaab, Dick F., Wilkinson, Lawrence, Gao, Yuanqing, Yi, Chun-Xia

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TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension von Kerstjens-Frederikse, Wilhelmina S, Bongers, Ernie M H F, Roofthooft, Marcus T R, Leter, Edward M, Douwes, J Menno, Van Dijk, Arie, Vonk-Noordegraaf, Anton, Dijk-Bos, Krista K, Hoefsloot, Lies H, Hoendermis, Elke S, Gille, Johan J P, Sikkema-Raddatz, Birgit, Hofstra, Robert M W, Berger, Rolf M F

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Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney von Westland, Rik, Verbitsky, Miguel, Vukojevic, Katarina, Perry, Brittany J., Fasel, David A., Zwijnenburg, Petra J.G., Bökenkamp, Arend, Gille, Johan J.P., Saraga-Babic, Mirna, Ghiggeri, Gian Marco, D'Agati, Vivette D., Schreuder, Michiel F., Gharavi, Ali G., van Wijk, Joanna A.E., Sanna-Cherchi, Simone

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Investigation of the Birt–Hogg–Dubé tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer von Nahorski, Michael S, Lim, Derek H K, Martin, Lynn, Gille, Johan J P, McKay, Kirsten, Rehal, Pauline K, Ploeger, H Martijn, van Steensel, Maurice, Tomlinson, Ian P, Latif, Farida, Menko, Fred H, Maher, Eamonn R

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Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study von Vernooij-van Langen, Annette M M, Loeber, J Gerard, Elvers, Bert, Triepels, Ralf H, Gille, Johan J P, Van der Ploeg, Catharina P B, Reijntjens, Sandra, Dompeling, Edward, Dankert-Roelse, Jeannette E

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Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation von Verkouteren, Babette J A, Cosgun, Betül, Vermeulen, R Jeroen, Reinders, Marie G H C, van Geel, Michel, Gille, Johan J P, Mosterd, Klara

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Recurrence and variability of germline EPCAM deletions in Lynch syndrome von Kuiper, Roland P., Vissers, Lisenka E.L.M., Venkatachalam, Ramprasath, Bodmer, Danielle, Hoenselaar, Eveline, Goossens, Monique, Haufe, Aline, Kamping, Eveline, Niessen, Renée C., Hogervorst, Frans B.L., Gille, Johan J.P., Redeker, Bert, Tops, Carli M.J., van Gijn, Marielle E., van den Ouweland, Ans M.W., Rahner, Nils, Steinke, Verena, Kahl, Philip, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Stemmler, Susanne, Betz, Beate, Hutter, Pierre, Bunyan, David J., Syngal, Sapna, Culver, Julie O., Graham, Tracy, Chan, Tsun L., Nagtegaal, Iris D., van Krieken, J. Han J.M, Schackert, Hans K., Hoogerbrugge, Nicoline, van Kessel, Ad Geurts, Ligtenberg, Marjolijn J.L.

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Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study von Cosgun, Betül, Reinders, Marie G.H.C., van Geel, Michel, Steijlen, Peter M., van Hout, Antonius F.W., Leter, Edward M., van der Smagt, Jasper J., van Hagen, Johanna M., Berger, Lieke P.V., Kets, C. Marleen, Wagner, Anja, Aalfs, Cora M., Hes, Frederik J., van der Kolk, Lizet E., Gille, Johan J.P., Mosterd, Klara

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CHEK21100delC homozygosity is associated with a high breast cancer risk in women von Adank, Muriel A, Jonker, Marianne A, Kluijt, Irma, van Mil, Saskia E, Oldenburg, Rogier A, Mooi, Wolter J, Hogervorst, Frans B L, van den Ouweland, Ans M W, Gille, Johan J P, Schmidt, Marjanka K, van der Vaart, Aad W, Meijers-Heijboer, Hanne, Waisfisz, Quinten

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Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands von Dankert-Roelse, Jeannette E., Bouva, Marelle J., Jakobs, Bernadette S., Janssens, Hettie M., de Winter-de Groot, Karin M., Schönbeck, Yvonne, Gille, Johan J.P., Gulmans, Vincent A.M., Verschoof-Puite, Rendelien K., Schielen, Peter C.J.I., Verkerk, Paul H.

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Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene von van de Beek, Irma, Glykofridis, Iris E, Tanck, Michael W T, Luijten, Monique N H, Starink, Theo M, Balk, Jesper A, Johannesma, Paul C, Hennekam, Eric, van den Hoff, Maurice J B, Gunst, Quinn D, Gille, Johan J P, Polstra, Abeltje M, Postmus, Pieter E, van Steensel, Maurice A M, Postma, Alex V, Wolthuis, Rob M F, Menko, Fred H, Houweling, Arjan C, Waisfisz, Quinten

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Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer von Piek, Jurgen M. J., van Diest, Paul J., Zweemer, Ronald P., Jansen, Jan W., Poort-Keesom, Ria J. J., Menko, Fred H., Gille, Johan J. P., Jongsma, Ans P. M., Pals, Gerard, Kenemans, Peter, Verheijen, René H. M.

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Cohort profile: a nationwide study in Dutch CHEK2 c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands – Hebon-CHEK2 von Schreurs, Maartje A.C., Adank, Muriel A, Hollestelle, Antoinette, de Groot, Rosa, Stommel-Jenner, Denise J, Van Asperen, Christi J., Ausems, Margreet G.E.M., Berger, Lieke P V, Blok, Marinus J, van Engelen, Klaartje, Hogervorst, Frans B L, Geurts-Giele, Willemina, Gille, Johan J P, Wevers, Marijke R, Schmidt, Marjanka K, Hooning, Maartje J.

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Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study von Kempers, Marlies JE, MD, Kuiper, Roland P, PhD, Ockeloen, Charlotte W, MD, Chappuis, Pierre O, MD, Hutter, Pierre, PhD, Rahner, Nils, MD, Schackert, Hans K, Prof, Steinke, Verena, MD, Holinski-Feder, Elke, Prof, Morak, Monika, PhD, Kloor, Matthias, MD, Büttner, Reinhard, MD, Verwiel, Eugene TP, BSc, van Krieken, J Han, Prof, Nagtegaal, Iris D, MD, Goossens, Monique, BSc, van der Post, Rachel S, MD, Niessen, Renée C, PhD, Sijmons, Rolf H, MD, Kluijt, Irma, MD, Hogervorst, Frans BL, PhD, Leter, Edward M, MD, Gille, Johan JP, PhD, Aalfs, Cora M, MD, Redeker, Egbert JW, PhD, Hes, Frederik J, MD, Tops, Carli MJ, PhD, van Nesselrooij, Bernadette PM, MD, van Gijn, Marielle E, PhD, García, Encarna B Gómez, MD, Eccles, Diana M, Prof, Bunyan, David J, PhD, Syngal, Sapna, MD, Stoffel, Elena M, MD, Culver, Julie O, MSc, Palomares, Melanie R, MD, Graham, Tracy, MSc, Velsher, Lea, MD, Papp, Janos, PhD, Oláh, Edith, Prof, Chan, Tsun L, PhD, Leung, Suet Y, Prof, van Kessel, Ad Geurts, Prof, Kiemeney, Lambertus ALM, Prof, Hoogerbrugge, Nicoline, Prof, Ligtenberg, Marjolijn JL, Dr

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Birt-Hogg-Dubé Syndrome: Clinical and Genetic Studies of 20 Families von Leter, Edward M., Karijn Koopmans, A., Gille, Johan J.P., van Os, Theo A.M., Vittoz, Gabriëlle G., David, Eric F.L., Jaspars, Elisabeth H., Postmus, Pieter E., van Moorselaar, R. Jeroen A., Craanen, Mikael E., Starink, Theo M., Menko, Fred H.

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Familial multiple discoid fibromas: A look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus von Starink, Theo M., MD, PhD, Houweling, Arjan C., MD, PhD, van Doorn, Martijn B.A., MD, PhD, Leter, Edward M., MD, PhD, Jaspars, Elisabeth H., MD, PhD, van Moorselaar, R. Jeroen A., MD, PhD, Postmus, Piet E., MD, PhD, Johannesma, Paul C., MD, van Waesberghe, Jan Hein, MD, PhD, Ploeger, Martijn H., RN, Kramer, Marieke T., MSc, Gille, Johan J.P., PhD, Waisfisz, Quinten, PhD, Menko, Fred H., MD, PhD

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Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method von HOGERVORST, Frans B. L, NEDERLOF, Petra M, KLUIJT, Irma, DOMMERING, Charlotte, VERHOEF, Senno, SCHOUTEN, Jan P, VAN'T VEER, Laura J, PALS, Gerard, GILLE, Johan J. P, MCELGUNN, Cathal J, GRIPPELING, Maartje, PRUNTEL, Roelof, REGNERUS, Rein, VAN WELSEM, Tibor, VAN SPAENDONK, Resie, MENKO, Fred H

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