Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development von Benko, Sabina, Gordon, Christopher T, Mallet, Delphine, Sreenivasan, Rajini, Thauvin-Robinet, Christel, Brendehaug, Atle, Thomas, Sophie, Bruland, Ove, David, Michel, Nicolino, Marc, Labalme, Audrey, Sanlaville, Damien, Callier, Patrick, Malan, Valerie, Huet, Frédéric, Molven, Anders, Dijoud, Frédérique, Munnich, Arnold, Faivre, Laurence, Amiel, Jeanne, Harley, Vincent, Houge, Gunnar, Morel, Yves, Lyonnet, Stanislas

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Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features von Cohen, J.S., Srivastava, S., Farwell Hagman, K.D., Shinde, D.N., Huether, R., Darcy, D., Wallerstein, R., Houge, G., Berland, S., Monaghan, K.G., Poretti, A., Wilson, A.L., Chung, W.K., Fatemi, A.

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Fabry disease: overall effects of agalsidase alfa treatment von Beck, M., Ricci, R., Widmer, U., Dehout, F., De Lorenzo, A. García, Kampmann, C., Linhart, A., Sunder-Plassmann, G., Houge, G., Ramaswami, U., Gal, A., Mehta, A.

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Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability von Houge, G., Rasmussen, I.H., Hovland, R.

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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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PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females von Berland, S., Alme, K., Brendehaug, A., Houge, G., Hovland, R.

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Small fibre neuropathy in Fabry disease von Bertelsen, A. K., Tøndel, C., Krohn, J., Bull, N., Aarseth, J., Houge, G., Mellgren, S. I., Vedeler, C. A.

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A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties von Lybæk, H, Øyen, N, Fauske, L, Houge, G

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Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis von Coste, Bertrand, Houge, Gunnar, Murray, Michael F., Stitziel, Nathan, Bandell, Michael, Giovanni, Monica A., Philippakis, Anthony, Hoischen, Alexander, Riemer, Gunnar, Steen, Unni, Steen, Vidar Martin, Mathur, Jayanti, Cox, James, Lebo, Matthew, Rehm, Heidi, Weiss, Scott T., Wood, John N., Maas, Richard L., Sunyaev, Shamil R., Patapoutian, Ardem

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Recommendations for whole genome sequencing in diagnostics for rare diseases von Souche, Erika, Beltran, Sergi, Brosens, Erwin, Belmont, John W, Fossum, Magdalena, Riess, Olaf, Gilissen, Christian, Ardeshirdavani, Amin, Houge, Gunnar, van Gijn, Marielle, Clayton-Smith, Jill, Synofzik, Matthis, de Leeuw, Nicole, Deans, Zandra C, Dincer, Yasemin, Eck, Sebastian H, van der Crabben, Saskia, Balasubramanian, Meena, Graessner, Holm, Sturm, Marc, Firth, Helen, Ferlini, Alessandra, Nabbout, Rima, De Baere, Elfride, Liehr, Thomas, Macek, Milan, Matthijs, Gert, Scheffer, Hans, Bauer, Peter, Yntema, Helger G, Weiss, Marjan M

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A novel mutation in the flavin-containing monooxygenase 3 gene ( FMO3) of a Norwegian family causes trimethylaminuria von Allerston, C.K., Vetti, H.H., Houge, G., Phillips, I.R., Shephard, E.A.

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Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of L... von de Bruijn, D.R.H., van Dijk, A.H.A., Pfundt, R., Hoischen, A., Merkx, G.F.M., Gradek, G.A., Lybæk, H., Stray-Pedersen, A., Brunner, H.G., Houge, G.

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Fine mapping of 28S rRNA sites specifically cleaved in cells undergoing apoptosis von Houge, G., Robaye, B., Eikhom, T. S., Golstein, J., Mellgren, G., Gjertsen, B. T., Lanotte, M., Døskeland, S. O.

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Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg von Vedder, Anouk C, Linthorst, Gabor E, Houge, Gunnar, Groener, Johannna E M, Ormel, Els E, Bouma, Berto J, Aerts, Johannes M F G, Hirth, Asle, Hollak, Carla E M

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Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations von RUDNIK-SCHÖNEBORN, Sabine, SENDEREK, Jan, SEEGER, Jürgen, RYAN, Monique M, MUNTONI, Francesco, STEINLIN, Maja, SZTRIHA, Laszlo, COLOMER, Jaume, HÜBNER, Christoph, BROCKMANN, Knut, VAN MALDERGEM, Lionel, SCHIFF, Manuel, JEN, Joanna C, HOLZINGER, Andreas, BARTH, Peter, REARDON, William, YOURSHAW, Michael, NELSON, Stanley F, EGGERMANN, Thomas, ZERRES, Klaus, HOUGE, Gunnar, SEEMAN, Pavel, PUCHMAJEROVA, Alena, GRAUL-NEUMANN, Luitgard, SEIDEL, Ulrich, KORINTHENBERG, Rudolf, KIRSCHNER, Janbernd

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Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36 von Zaveri, Hitisha P, Beck, Tyler F, Hernández-García, Andrés, Shelly, Katharine E, Montgomery, Tara, van Haeringen, Arie, Anderlid, Britt-Marie, Patel, Chirag, Goel, Himanshu, Houge, Gunnar, Morrow, Bernice E, Cheung, Sau Wai, Lalani, Seema R, Scott, Daryl A

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Two Distinctly Regulated Events, Priming and Triggering, During Retinoid-Induced Maturation and Resistance of NB4 Promyelocytic Leukemia Cell Line von Ruchaud, S., Duprez, E., Gendron, M. C., Houge, G., Genieser, H. G., Jastorff, B., doskeland, S. O., Lanotte, M.

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Mutations in exon 7 of the α-galactosidase a gene von Rosenberg, K, Hafsteinsdottir, S.H, Skarbövik, A, Houge, G, Christensen, E, Hasholt, L

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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype von Kleefstra, T, van Zelst-Stams, W A, Nillesen, W M, Cormier-Daire, V, Houge, G, Foulds, N, van Dooren, M, Willemsen, M H, Pfundt, R, Turner, A, Wilson, M, McGaughran, J, Rauch, A, Zenker, M, Adam, M P, Innes, M, Davies, C, López, A González-Meneses, Casalone, R, Weber, A, Brueton, L A, Navarro, A Delicado, Bralo, M Palomares, Venselaar, H, Stegmann, S P A, Yntema, H G, van Bokhoven, H, Brunner, H G

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Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11→q11:)/46,XX karyotype von von Eggeling, F, Hoppe, C, Bartz, U, Starke, H, Houge, G, Claussen, U, Ernst, G, Kotzot, D, Liehr, T

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