C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome von Arts, Heleen H, Bongers, Ernie M H F, Mans, Dorus A, van Beersum, Sylvia E C, Oud, Machteld M, Bolat, Emine, Spruijt, Liesbeth, Cornelissen, Elisabeth A M, Schuurs-Hoeijmakers, Janneke H M, de Leeuw, Nicole, Cormier-Daire, Valérie, Brunner, Han G, Knoers, Nine V A M, Roepman, Ronald

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Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1 : evidence for genetic heterogeneity von MARIMAN, E. C. M, VAN BEERSUM, S. E. C, CREMERS, C. W. R. J, STRUYCKEN, P. M, ROPERS, H. H

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Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts von Barrow, L L, van Bokhoven, H, Daack-Hirsch, S, Andersen, T, van Beersum, S E C, Gorlin, R, Murray, J C

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Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q von MARIMAN, E. C. M, VAN BEERSUM, S. E. C, CREMERS, C. W. R. J, VAN BAARS, F. M, ROPERS, H. H

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Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies von MARIMAN, E. C. M, GABREËLS-FESTEN, A. A. W. M, VAN BEERSUM, S. E. C, JONGEN, P. J. H, VAN DE LOOIJ, E, BAAS, F, BOLHUIS, P. A, ROPERS, H. H, GABREËLS, F. J. M

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A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2 , causes multiple epiphyseal dysplasia (EDM2) von Muragaki, Yasuteru, Warman, Matthew L, van Beersum, Sylvia E.C, Mariman, Edwin C.M, Hamel, Ben C.J, Perälä, Merja, van Mourik, Jan B.A, Olsen, Bjorn R

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Hereditary neuropathy with liability to pressure palsies : Phenotypic differences between patients with the common deletion and a pmp22 frame shift mutation von LENSSEN, P. P. A, GABREËLS-FESTEN, A. A. W. M, VALENTIJN, L. J, JONGEN, P. J. H, VAN BEERSUM, S. E. C, VAN ENGELEN, B. G. M, VAN WENSEN, P. J. M, BOLHUIS, P. A, GABREËLS, F. J. M, MARIMAN, E. C. M

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The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome von BONGERS, ERNIE M H F, VAN BOKHOVEN, HANS, VAN THIENEN, MARIE-NOËLLE, KOOYMAN, MARINUS A P, VAN BEERSUM, SYLVIA E C, BOETES, CARLA, KNOERS, NINE V A M, HAMEL, BEN C J

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Refined Genetic and Physical Localization of the Wagner Disease (WGN1) Locus and the Genes CRTL1 and CSPG2 to a 2- to 2.5-cM Region of Chromosome 5q14.3 von Perveen, Rahat, Hart-Holden, Niki, Dixon, Michael J., Wiszniewski, Wojtek, Fryer, Alan E., Brunner, Han G., Pinkners, Alfred J.L.H., van Beersum, Sylvie E.C., Black, Graeme C.M.

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A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene von Brunner, Han G., van Beersum, Sylvia E.C., Warman, Matt L., Olsen, Bjorn R., Ropers, Hans-Hilger, Mariman, Edwin C.M.

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Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy von Roosing, Susanne, Lamers, Ideke J.C., de Vrieze, Erik, van den Born, L. Ingeborgh, Lambertus, Stanley, Arts, Heleen H., Boldt, Karsten, de Baere, Elfride, Klaver, Caroline C.W., Coppieters, Frauke, Koolen, David A., Lugtenberg, Dorien, Neveling, Kornelia, van Reeuwijk, Jeroen, Ueffing, Marius, van Beersum, Sylvia E.C., Zonneveld-Vrieling, Marijke N., Peters, Theo A., Hoyng, Carel B., Kremer, Hannie, Hetterschijt, Lisette, Letteboer, Stef J.F., van Wijk, Erwin, Roepman, Ronald, den Hollander, Anneke I., Cremers, Frans P.M.

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Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies von Mariman, E. C. M., Gabreëls-Festen, A. A. W. M., van Beersum, S. E. C., Valentijn, L. J., Baas, F., Bolhuis, P. A., Jongen, P. J. H., Ropers, H. H., Gabreëls, F. J. M.

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Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome : clinical aspects von HENNEKAM, R. C. M, TILANUS, M, HAMEL, B. C. J, VOSHART-VAN HEEREN, H, MARIMAN, E. C. M, VAN BEERSUM, S. E. C, VAN DEN BOOGAARD, M.-J. H, BREUNING, M. H

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Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds von Gruis, Nelleke A, Bavinck, Jan N Bouwes, Steijlen, Peter M, Van Der Schroeff, Jan G, Van Haeringen, Arie, Happle, Rudolf, Mariman, Edwin, Van Beersum, Sylvia E C, Uitto, Jouni, Vermeer, Bert J, Frants, Rune R

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Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1 von MARIMAN, E. C. M, GABREËLS-FESTEN, A. A. W. M, VAN BEERSUM, S. E. C, JONGEN, P. J. H, ROPERS, H.-H, GABREËLS, F. J. M

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Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome von Latour, Brooke L, Van De Weghe, Julie C, Rusterholz, Tamara Ds, Letteboer, Stef Jf, Gomez, Arianna, Shaheen, Ranad, Gesemann, Matthias, Karamzade, Arezou, Asadollahi, Mostafa, Barroso-Gil, Miguel, Chitre, Manali, Grout, Megan E, van Reeuwijk, Jeroen, van Beersum, Sylvia Ec, Miller, Caitlin V, Dempsey, Jennifer C, Morsy, Heba, Bamshad, Michael J, Nickerson, Deborah A, Neuhauss, Stephan Cf, Boldt, Karsten, Ueffing, Marius, Keramatipour, Mohammad, Sayer, John A, Alkuraya, Fowzan S, Bachmann-Gagescu, Ruxandra, Roepman, Ronald, Doherty, Dan

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Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain von Cevik, Sebiha, Sanders, Anna A W M, Van Wijk, Erwin, Boldt, Karsten, Clarke, Lara, van Reeuwijk, Jeroen, Hori, Yuji, Horn, Nicola, Hetterschijt, Lisette, Wdowicz, Anita, Mullins, Andrea, Kida, Katarzyna, Kaplan, Oktay I, van Beersum, Sylvia E C, Man Wu, Ka, Letteboer, Stef J F, Mans, Dorus A, Katada, Toshiaki, Kontani, Kenji, Ueffing, Marius, Roepman, Ronald, Kremer, Hannie, Blacque, Oliver E

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CiliaCarta: An integrated and validated compendium of ciliary genes von van Dam, Teunis J P, Kennedy, Julie, van der Lee, Robin, de Vrieze, Erik, Wunderlich, Kirsten A, Rix, Suzanne, Dougherty, Gerard W, Lambacher, Nils J, Li, Chunmei, Jensen, Victor L, Leroux, Michel R, Hjeij, Rim, Horn, Nicola, Texier, Yves, Wissinger, Yasmin, van Reeuwijk, Jeroen, Wheway, Gabrielle, Knapp, Barbara, Scheel, Jan F, Franco, Brunella, Mans, Dorus A, van Wijk, Erwin, Képès, François, Slaats, Gisela G, Toedt, Grischa, Kremer, Hannie, Omran, Heymut, Szymanska, Katarzyna, Koutroumpas, Konstantinos, Ueffing, Marius, Nguyen, Thanh-Minh T, Letteboer, Stef J F, Oud, Machteld M, van Beersum, Sylvia E C, Schmidts, Miriam, Beales, Philip L, Lu, Qianhao, Giles, Rachel H, Szklarczyk, Radek, Russell, Robert B, Gibson, Toby J, Johnson, Colin A, Blacque, Oliver E, Wolfrum, Uwe, Boldt, Karsten, Roepman, Ronald, Hernandez-Hernandez, Victor, Huynen, Martijn A

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The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking von Bachmann-Gagescu, Ruxandra, Dona, Margo, Hetterschijt, Lisette, Tonnaer, Edith, Peters, Theo, de Vrieze, Erik, Mans, Dorus A, van Beersum, Sylvia E C, Phelps, Ian G, Arts, Heleen H, Keunen, Jan E, Ueffing, Marius, Roepman, Ronald, Boldt, Karsten, Doherty, Dan, Moens, Cecilia B, Neuhauss, Stephan C F, Kremer, Hannie, van Wijk, Erwin

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Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies : a new X-linked multiple congenital anomalies/mental retardation syndrome : clinical... von HAMEL, B. C. J, MARIMAN, E. C. M, VAN BEERSUM, S. E. C, SCHOONBROOD-LENSSEN, A. M. J, LOPERS, H.-H

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