Molecular and Clinical Aspects of Angelman Syndrome von Dagli, A., Buiting, K., Williams, C.A.

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Imprinting defects on human chromosome 15 von Horsthemke, B., Buiting, K.

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Another Case of Imprinting Defect in a Girl with Angelman Syndrome Who Was Conceived by Intracytoplasmic Sperm Injection von Ørstavik, K.H., Eiklid, K., van der Hagen, C.B., Spetalen, S., Kierulf, K., Skjeldal, O., Buiting, K.

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Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction von Parenti, I., Gervasini, C., Pozojevic, J., Wendt, K.S., Watrin, E., Azzollini, J., Braunholz, D., Buiting, K., Cereda, A., Engels, H., Garavelli, L., Glazar, R., Graffmann, B., Larizza, L., Lüdecke, H.J., Mariani, M., Masciadri, M., Pié, J., Ramos, F.J., Russo, S., Selicorni, A., Stefanova, M., Strom, T.M., Werner, R., Wierzba, J., Zampino, G., Gillessen-Kaesbach, G., Wieczorek, D., Kaiser, F.J.

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Molecular and clinical studies in 8 patients with Temple syndrome von Gillessen‐Kaesbach, G., Albrecht, B., Eggermann, T., Elbracht, M., Mitter, D., Morlot, S., van Ravenswaaij‐Arts, C.M.A., Schulz, S., Strobl‐Wildemann, G., Buiting, K., Beygo, J.

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Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues von Begemann, M, Spengler, S, Kanber, D, Haake, A, Baudis, M, Leisten, I, Binder, G, Markus, S, Rupprecht, T, Segerer, H, Fricke-Otto, S, Mühlenberg, R, Siebert, R, Buiting, K, Eggermann, T

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Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features von Eggermann, T, Spengler, S, Begemann, M, Binder, G, Buiting, K, Albrecht, B, Spranger, S

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Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome von Eggermann, T, Schönherr, N, Eggermann, K, Buiting, K, Ranke, MB, Wollmann, HA, Binder, G

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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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Imprinting-Mutation Mechanisms in Prader-Willi Syndrome von Ohta, T., Gray, T.A., Rogan, P.K., Buiting, K., Gabriel, J.M., Saitoh, S., Muralidhar, B., Bilienska, B., Krajewska-Walasek, M., Driscoll, D.J., Horsthemke, B., Butler, M.G., Nicholls, R.D.

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Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method von Zeschnigk, Michael, Schmitz, Birgit, Dittrich, Bärbel, Buiting, Karin, Horsthemke, Bernhard, Doerfler, Walter

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A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp von BUITING, K, LICH, C, COTTRELL, S, BARNICOAT, A, HORSTHEMKE, B

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Minimal Definition of the Imprinting Center and Fixation of a Chromosome 15q11-q13 Epigenotype by Imprinting Mutations von Saitoh, Shinji, Buiting, Karin, Rogan, Peter K., Buxton, Jessica L., Driscoll, Daniel J., Arnemann, Joachim, König, Rainer, Malcolm, Sue, Horsthemke, Bernhard, Nicholls, Robert D.

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Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization von HERZOG, Susanne, LOHMANN, Dietmar R, BUITING, Karin, SCHÜLER, Andreas, HORSTHEMKE, Bernhard, REHDER, Helga, RIEDER, Harald

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Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes von REIS, A, DITTRICH, B, GREGER, V, BUITING, K, LALANDE, M, GILLESSEN-KAESBACH, G, ANVRET, M, HORSTHEMKE, B

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Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect von Buiting, Karin, Groß, Stephanie, Lich, Christina, Gillessen-Kaesbach, Gabriele, El-Maarri, Osman, Horsthemke, Bernhard

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Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation von Ohta, T., Buiting, K., Kokkonen, H., McCandless, S., Heeger, S., Leisti, H., Driscoll, D.J., Cassidy, S.B., Horsthemke, B., Nicholls, R.D.

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Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element von Albrecht, P, Bode, J, Buiting, K, Prashanth, A K, Lohmann, D R

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Identification of Brain-Specific and Imprinted Small Nucleolar RNA Genes Exhibiting an Unusual Genomic Organization von Cavaillé, J, Buiting, K, Kiefmann, M, Lalande, M, Brannan, C I, Horsthemke, B, Bachellerie, J P, Brosius, J, Hüttenhofer, A

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The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A von RUNTE, Maren, HÜTTENHOFER, Alexander, GROSS, Stephanie, KIEFMANN, Martin, HORSTHEMKE, Bernhard, BUITING, Karin

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