Cornelia de Lange syndrome von Boyle, M.I., Jespersgaard, C., Brøndum-Nielsen, K., Bisgaard, A.-M., Tümer, Z.

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Recent Advances in Imprinting Disorders von Soellner, L., Begemann, M., Mackay, D.J.G., Grønskov, K., Tümer, Z., Maher, E.R., Temple, I.K., Monk, D., Riccio, A., Linglart, A., Netchine, I., Eggermann, T.

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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome von Schönewolf-Greulich, B., Tejada, M.-I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum-Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A.-M., Tümer, Z.

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A homozygous nonsense mutation (c.214C→A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis von Nytofte, Nikolaj S, Serrano, Maria A, Monte, Maria J, Gonzalez-Sanchez, Ester, Tumer, Zeynep, Ladefoged, Karin, Briz, Oscar, Marin, Jose J G

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Response to Dylan Mordaunt and Alisha McLauchlan von Boyle, M. I., Tümer, Z.

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SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations von Rendtorff, ND, Schrijver, I, Lodahl, M, Rodriguez-Paris, J, Johnsen, T, Hansén, EC, Nickelsen, LAA, Tümer, Z, Fagerheim, T, Wetke, R, Tranebjærg, L

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A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia von Roos, L., Fang, M., Dali, C., Jensen, H., Christoffersen, N., Wu, B., Zhang, J., Xu, R., Harris, P., Xu, X., Grønskov, K., Tümer, Z.

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A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome – review of the literature von Boyle, M.I., Jespersgaard, C., Nazaryan, L., Bisgaard, A.‐M., Tümer, Z.

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A 37‐year‐old Menkes disease patient—Residual ATP7A activity and early copper administration as key factors in beneficial treatment von Tümer, Z., Petris, M., Zhu, S., Mercer, J., Bukrinski, J., Bilz, S., Baerlocher, K., Horn, N., Møller, L.B

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Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature von Schönewolf‐Greulich, B., Bisgaard, A‐M., Møller, R.S., Dunø, M., Brøndum‐Nielsen, K., Kaur, S., Van Bergen, N.J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J., Tümer, Z.

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High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease von Erdogan, F, Larsen, L A, Zhang, L, Tümer, Z, Tommerup, N, Chen, W, Jacobsen, J R, Schubert, M, Jurkatis, J, Tzschach, A, Ropers, H-H, Ullmann, R

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Comparison of Clinical Methods With the Faecal Gluten Immunogenic Peptide to Assess Gluten Intake in Coeliac Disease von Gerasimidis, Konstantinos, Zafeiropoulou, Konstantina, Mackinder, Mary, Ijaz, Umer Z, Duncan, Hazel, Buchanan, Elaine, Cardigan, Tracey, Edwards, Christine A., McGrogan, Paraic, Russell, Richard K.

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Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant von Tvergaard, Nicolai Kohring, Tkemaladze, Tinatin, Stödberg, Tommy, Kvarnung, Malin, Tatton‐Brown, Katrina, Baralle, Diana, Tümer, Zeynep, Bayat, Allan

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Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein von Chelly, Jamel, Tümer, Zeynep, Tønnesen, Tønne, Petterson, Anne, Ishikawa-Brush, Yumiko, Tommerup, Niels, Horn, Nina, Monaco, Anthony P.

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Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair von Ravn, K, Lindquist, SG, Nielsen, K, Dahm, TL, Tümer, Z

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Menkes disease: recent advances and new aspects von Tümer, Z, Horn, N

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Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome von Møller, Lisbeth Birk, Tümer, Zeynep, Lund, Connie, Petersen, Carsten, Cole, Trevor, Hanusch, Ralf, Seidel, Jürg, Jensen, Lars Riff, Horn, Nina

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Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and Expression Studies von Zink, A.M., Wohlleber, E., Engels, H., Rødningen, O.K., Ravn, K., Heilmann, S., Rehnitz, J., Katzorke, N., Kraus, C., Blichfeldt, S., Hoffmann, P., Reutter, H., Brockschmidt, F.F., Kreiß-Nachtsheim, M., Vogt, P.H., Prescott, T.E., Tümer, Z., Lee, J.A.

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Characterization of the exon structure of the Menkes disease gene using vectorette PCR von Tümer, Z., Vural, B., Tønnesen, T., Chelly, J., Monaco, A.P., Horn, N.

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Investigation of 4q-deletion in two unrelated patients using array CGH von Kaalund, S.S., Møller, R.S., Tészás, A., Miranda, M., Kosztolanyi, G., Ullmann, R., Tommerup, N., Tümer, Z.

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