Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype von Bramswig, Nuria C., Caluseriu, O., Lüdecke, H.-J., Bolduc, F. V., Noel, N. C. L., Wieland, T., Surowy, H. M., Christen, H.-J., Engels, H., Strom, T. M., Wieczorek, D.

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Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism von Bramswig, Nuria C., Lüdecke, H.-J., Pettersson, M., Albrecht, B., Bernier, R. A., Cremer, K., Eichler, E. E., Falkenstein, D., Gerdts, J., Jansen, S., Kuechler, A., Kvarnung, M., Lindstrand, A., Nilsson, D., Nordgren, A., Pfundt, R., Spruijt, L., Surowy, H. M., de Vries, B. B. A., Wieland, T., Engels, H., Strom, T. M., Kleefstra, T., Wieczorek, D.

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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome von Czeschik, J. C., Voigt, C., Alanay, Y., Albrecht, B., Avci, S., FitzPatrick, D., Goudie, D. R., Hehr, U., Hoogeboom, A. J., Kayserili, H., Simsek-Kiper, P. O., Klein-Hitpass, L., Kuechler, A., López-González, V., Martin, M., Rahmann, S., Schweiger, B., Splitt, M., Wollnik, B., Lüdecke, H. -J., Zeschnigk, M., Wieczorek, D.

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Multi-periodic climate dynamics: spectral analysis of long-term instrumental and proxy temperature records von Lüdecke, H.-J, Hempelmann, A, Weiss, C. O

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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I von Momeni, Parastoo, Glöckner, Gernot, Schmidt, Olaf, von Holtum, Diane, Albrecht, Beate, Gillessen-Kaesbach, Gabriele, Hennekam, Raoul, Meinecke, Peter, Zabel, Bernhard, Rosenthal, André, Horsthemke, Bernhard, Lüdecke, Hermann-Josef

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First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome von Beygo, J., Buiting, K., Seland, S., Lüdecke, H.-J., Hehr, U., Lich, C., Prager, B., Lohmann, D.R., Wieczorek, D.

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‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes von Bramswig, Nuria C., Ockeloen, C. W., Czeschik, J. C., van Essen, A. J., Pfundt, R., Smeitink, J., Poll-The, B. T., Engels, H., Strom, T. M., Wieczorek, D., Kleefstra, T., Lüdecke, H.-J.

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A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature von Kuechler, A., Hentschel, J., Kurth, I., Stephan, B., Prott, E.-C., Schweiger, B., Schuster, A., Wieczorek, D., Lüdecke, H.-J.

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Tricho-Rhino-Phalangeal Syndrome with Supernumerary Teeth von Kantaputra, P., Miletich, I., Lüdecke, H.-J., Suzuki, E.Y., Praphanphoj, V., Shivdasani, R., Wuelling, M., Vortkamp, A., Napierala, D., Sharpe, P.T.

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Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III von Lüdecke, H.-J., Schaper, J., Meinecke, P., Momeni, P., Groß, S., von Holtum, D., Hirche, H., Abramowicz, M.J., Albrecht, B., Apacik, C., Christen, H.-J., Claussen, U., Devriendt, K., Fastnacht, E., Forderer, A., Friedrich, U., Goodship, T.H.J., Greiwe, M., Hamm, H., Hennekam, R.C.M., Hinkel, G.K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A.T., Moog, U., Nagai, T., Niikawa, N., Ørstavik, K.H., Plöchl, E., Seitz, C., Schmidtke, J., Tranebjærg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., Horsthemke, B.

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DYT16 mimics metabolic disease with fever associated beginning of dystonia and MRI abnormalities von Kölbel, H, Kuechler, A, Strom, T.M, Lüdecke, H.-J, Möller-Hartmann, C, Della-Marina, A, Wieczoreck, D, Schara, U

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Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1) von Ahn, Jung, Lüdecke, Hermann-Josef, Lindow, Steffi, Horton, William A., Lee, Brendan, Wagner, Michael J., Horsthemke, Bernhard, Wells, Dan E.

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Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification von LÜDECKE, H.-J, SENGER, G, CLAUSSEN, U, HORSTHEMKE, B

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Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8 von LÜDECKE, H.-J, SCHMIDT, O, NARDMANN, J, VON HOLTUM, D, MEINECKE, P, MUENKE, M, HORSTHEMKE, B

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The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability von Klink, Albrecht, Schiebel, Katrin, Winkelmann, Martina, Rao, Ercole, Horsthemke, Bernhard, Lüdecke, Hermann-Joset, Claussen, Uwe, Scherer, Gerd, Rappold, Gudrun

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A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1 : use in refining the location of the trichorhinophalangeal syndrome and multiple e... von HOU, J, PARRISH, J, CHINAULT, C, HORSTHEMKE, B, WAGNER, M. J, WELLS, D. E, LÜDECKE, H.-J, SAPRU, M, WANG, Y, CHEN, W, HILL, A, SIEGEL-BARTELT, J, NORTHRUP, H, ELDER, F. F. B

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Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses von Wuyts, Wim, Van Hul, Wim, De Boulle, Kristel, Hendrickx, Jan, Bakker, Egbert, Vanhoenacker, Filip, Mollica, Florindo, Lüdecke, Hermann-Josef, Sayli, Bekir Sitki, Pazzaglia, Ugo E., Mortier, Geert, Hamel, Ben, Conrad, Ernest U., Matsushita, Mark, Raskind, Wendy H., Willems, Patrick J.

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The tricho-rhino-phalangeal syndromes : frequency and parental origin of 8q deletions von NARDMANN, J, TRANEBJAERG, L, HORSTHEMKE, B, LÜDECKE, H.-J

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A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene von Sendi-Naderi, A, Lüdecke, H-J, Unger, S, Kern, JS, Wolff, G, Bruckner-Tuderman, L, Nashan, D

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Genomic Organization and Promoter Structure of the Human EXT1 Gene von Lüdecke, Hermann-Josef, Ahn, Jung, Lin, X., Hill, A., Wagner, Michael J., Schomburg, Lutz, Horsthemke, Bernhard, Wells, Dan E.

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