Keloids in Rubinstein-Taybi syndrome: a clinical study von van de Kar, A.L., Houge, G., Shaw, A.C., de Jong, D., van Belzen, M.J., Peters, D.J.M., Hennekam, R.C.M.

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Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience von Bhuiyan, Z A, Klein, M, Hammond, P, van Haeringen, A, Mannens, M M A M, Van Berckelaer-Onnes, I, Hennekam, R C M

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Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family von Dai, J, Kim, O-H, Cho, T-J, Schmidt-Rimpler, M, Tonoki, H, Takikawa, K, Haga, N, Miyoshi, K, Kitoh, H, Yoo, W-J, Choi, I-H, Song, H-R, Jin, D-K, Kim, H-T, Kamasaki, H, Bianchi, P, Grigelioniene, G, Nampoothiri, S, Minagawa, M, Miyagawa, S-i, Fukao, T, Marcelis, C, Jansweijer, M C E, Hennekam, R C M, Bedeschi, F, Mustonen, A, Jiang, Q, Ohashi, H, Furuichi, T, Unger, S, Zabel, B, Lausch, E, Superti-Furga, A, Nishimura, G, Ikegawa, S

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CACNA1B mutation is linked to unique myoclonus-dystonia syndrome von Groen, Justus L, Andrade, Arturo, Ritz, Katja, Jalalzadeh, Hamid, Haagmans, Martin, Bradley, Ted E J, Jongejan, Aldo, Verbeek, Dineke S, Nürnberg, Peter, Denome, Sylvia, Hennekam, Raoul C M, Lipscombe, Diane, Baas, Frank, Tijssen, Marina A J

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Natural history of cardiovascular manifestations in Marfan syndrome von van Karnebeek, C D M, Naeff, M S J, Mulder, B J M, Hennekam, R C M, Offringa, M

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Frequent intragenic rearrangements of DPYD in colorectal tumours von van Kuilenburg, A B P, Etienne-Grimaldi, M-C, Mahamat, A, Meijer, J, Laurent-Puig, P, Olschwang, S, Gaub, M-P, Hennekam, R C M, Benchimol, D, Houry, S, Letoublon, C, Gilly, F-N, Pezet, D, Andre, T, Faucheron, J-L, Abderrahim-Ferkoune, A, Vijzelaar, R, Pradere, B, Milano, G

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Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism von van Balkom, I. D. C., Shaw, A., Vuijk, P. J., Franssens, M., Hoek, H. W., Hennekam, R. C. M.

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Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth? von Nolte, J.W., Alders, M., Karssemakers, L.H.E., Becking, A.G., Hennekam, R.C.M.

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Survival and complication free survival in Marfan’s syndrome: implications of current guidelines von Groenink, M, Lohuis, T A J, Tijssen, J G P, Naeff, M S J, Hennekam, R C M, van der Wall, E E, Mulder, B J M

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Molecular basis of unilateral condylar hyperplasia? von Nolte, J.W., Alders, M., Karssemakers, L.H.E., Becking, A.G., Hennekam, R.C.M.

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Development and validation of a severity scoring system for Zellweger spectrum disorders von Klouwer, F.C.C., Meester‐Delver, A., Vaz, F.M., Waterham, H.R., Hennekam, R.C.M., Poll‐The, B.T.

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Phenotype and genotype in 17 patients with Goltz–Gorlin syndrome von Maas, S M, Lombardi, M P, van Essen, A J, Wakeling, E L, Castle, B, Temple, I K, Kumar, V K A, Writzl, K, Hennekam, Raoul C M

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A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies von Bondurand, Nadège, Kuhlbrodt, Kirsten, Pingault, Véronique, Enderich, Janna, Sajus, Marc, Tommerup, Niels, Warburg, Mette, Hennekam, Raoul C. M., Read, Andrew P., Wegner, Michael, Goossens, Michel

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Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome von De Winter, C. F., Van Dijk, F., Stolker, J. J., Hennekam, R. C. M.

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Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes... von Vega, H, Trainer, A H, Gordillo, M, Crosier, M, Kayserili, H, Skovby, F, Uzielli, M L Giovannucci, Schnur, R E, Manouvrier, S, Blair, E, Hurst, J A, Forzano, F, Meins, M, Simola, K O J, Raas-Rothschild, A, Hennekam, R C M, Jabs, E Wang

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Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes von Aldred, M A, Sanford, R O C, Thomas, N S, Barrow, M A, Wilson, L C, Brueton, L A, Bonaglia, M C, Hennekam, R C M, Eng, C, Dennis, N R, Trembath, R C

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Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome von Steinbusch, CVM, van Roozendaal, KEP, Tserpelis, D, Smeets, EEJ, Kranenburg-de Koning, TJ, de Waal, KH, Zweier, C, Rauch, A, Hennekam, RCM, Blok, MJ, Schrander-Stumpel, CTRM

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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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Genetic syndromes and prenatally detected renal anomalies von Deshpande, C, Hennekam, R.C.M

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Type III collagen deficiency in saccular intracranial aneurysms: Defect in gene regulation? von VAN DEN BERG, J. S. P, PALS, G, ARWERT, F, HENNEKAM, R. C. M, ALBRECHT, K. W, WESTERVELD, A, LIMBURG, M

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