X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions von Heiss, Nina S, Knight, Stuart W, Vulliamy, Tom J, Klauck, Sabine M, Wiemann, Stefan, Mason, Philip J, Poustka, Annemarie, Dokal, Inderjeet

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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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Dyskerin Localizes to the Nucleolus and Its Mislocalization Is Unlikely to Play a Role in the Pathogenesis of Dyskeratosis Congenita von Heiss, Nina S., Girod, Andreas, Salowsky, Rudiger, Wiemann, Stefan, Pepperkok, Rainer, Poustka, Annemarie

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Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome von Yaghmai, Reza, Kimyai-Asadi, Arash, Rostamiani, Karoline, Heiss, Nina S., Poustka, Annemarie, Eyaid, Wafaa, Bodurtha, Joann, Nousari, Hossein C., Hamosh, Ada, Metzenberg, Aida

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Genomic Structure of a Novel Chloride Channel Gene, CLIC2, in Xq28 von Heiss, Nina S., Poustka, Annemarie

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Dyskeratosis Congenita Caused by a 3′ Deletion: Germline and Somatic Mosaicism in a Female Carrier von Vulliamy, T.J., Knight, S.W., Heiss, N.S., Smith, O.P., Poustka, A., Dokal, I., Mason, P.J.

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1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis von Knight, S W, Vulliamy, T J, Heiss, N S, Matthijs, G, Devriendt, K, Connor, J M, D'Urso, M, Poustka, A, Mason, P J, Dokal, I

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Gene Structure and Expression of the Mouse Dyskeratosis Congenita Gene, Dkc1 von Heiss, Nina S., Bächner, Dietmar, Salowsky, Rüdiger, Kolb, Anja, Kioschis, Petra, Poustka, Annemarie

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Transcription Mapping in a Medulloblastoma Breakpoint Interval and Smith–Magenis Syndrome Candidate Region: Identification of 53 Transcriptional Units and New Candidate Genes von Seranski, Peter, Heiss, Nina S., Dhorne-Pollet, Sophie, Radelof, Uwe, Korn, Bernhard, Hennig, Steffen, Backes, Esther, Schmidt, Sabine, Wiemann, Stefan, Schwarz, Charles E., Lehrach, Hans, Poustka, Annemarie

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Genomic Organization of a 225-kb Region in Xq28 Containing the Gene for X-Linked Myotubular Myopathy (MTM1) and a Related Gene (MTMR1) von Kioschis, Petra, Wiemann, Stefan, Heiss, Nina S., Francis, Fiona, Götz, Carmen, Poustka, Annemarie, Taudien, Stefan, Platzer, Matthias, Wiehe, Thomas, Beckmann, Georg, Weber, Jacqueline, Nordsiek, Gabriele, Rosenthal, André

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Genomic Structure of a Novel LIM Domain Gene (ZNF185) in Xq28 and Comparisons with the Orthologous Murine Transcript von Heiss, Nina S, Gloeckner, Gernot, Bächner, Dietmar, Kioschis, Petra, Klauck, Sabine M, Hinzmann, Bernd, Rosenthal, André, Herman, Gail E, Poustka, Annemarie

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Mutation analysis of the DKC1 gene in incontinentia pigmenti von HEISS, NINA S, POUSTKA, ANNEMARIE, KNIGHT, STUART W, ARADHYA, SWAROOP, NELSON, DAVID L, LEWIS, RICHARD A, ESPOSITO, TERESA, CICCODICOLA, ALFREDO, D’URSO, MICHELE, SMAHI, ASMAE, HEUERTZ, SOLANGE, MUNNICH, ARNOLD, VABRES, PIERRE, WOFFENDIN, HAYLEY, KENWRICK, SUSAN

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Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activi... von Salowsky, Rüdiger, Heiss, Nina S, Benner, Axel, Wittig, Rainer, Poustka, Annemarie

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RAI1 is a novel polyglutamine encoding gene that is deleted in Smith–Magenis syndrome patients von Seranski, Peter, Hoff, Céline, Radelof, Uwe, Hennig, Steffen, Reinhardt, Richard, Schwartz, Charles E, Heiss, Nina S, Poustka, Annemarie

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Physical and Genetic Characterization Reveals a Pseudogene, an Evolutionary Junction, and Unstable Loci in Distal Xq28 von Aradhya, Swaroop, Woffendin, Hayley, Bonnen, Penelope, Heiss, Nina S., Yamagata, Takanori, Esposito, Teresa, Bardaro, Tiziana, Poustka, Annemarie, D'Urso, Michele, Kenwrick, Sue, Nelson, David L.

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X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene von Knight, S.W., Heiss, N.S., Vulliamy, T.J., Greschner, S., Stavrides, G., Pai, G.S., Lestringant, G., Varma, N., Mason, P.J., Dokal, I., Poustka, A.

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Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28 von Rogner, U C, Heiss, N S, Kioschis, P, Wiemann, S, Korn, B, Poustka, A

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Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti

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Exploring Transportation Accessibility to Health Care among Vermont's Rural Seniors von Battista, Geoffrey A., Lee, Brian H. Y., Kolodinsky, Jane, Heiss, Sarah N.

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Amplification and expression of the TGF-α, EGF receptor and c-myc genes in four human oesophageal squamous cell carcinoma lines von JONES, G. J, HEISS, N. S, VEALE, R. B, THORNLEY, A. L

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