Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis von Hake, L., Süßmuth, K., Komlosi, K., Kopp, J., Drerup, C., Metze, D., Traupe, H., Hausser, I., Eckl, K.M., Hennies, H.C., Fischer, J., Oji, V.

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CEDNIK syndrome results from loss-of-function mutations in SNAP29 von Fuchs-Telem, D., Stewart, H., Rapaport, D., Nousbeck, J., Gat, A., Gini, M., Lugassy, Y., Emmert, S., Eckl, K., Hennies, H.C., Sarig, O., Goldsher, D., Meilik, B., Ishida-Yamamoto, A., Horowitz, M., Sprecher, E.

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The importance of genetic susceptibility in Dupuytren's disease von Becker, K., Tinschert, S., Lienert, A., Bleuler, P.E., Staub, F., Meinel, A., Rößler, J., Wach, W., Hoffmann, R., Kühnel, F., Damert, H.-G., Nick, H.-E., Spicher, R., Lenze, W., Langer, M., Nürnberg, P., Hennies, H.C.

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Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations von Gruber, R., Rainer, G., Weiss, A., Udvardi, A., Thiele, H., Eckl, K.M., Schupart, R., Nürnberg, P., Zschocke, J., Schmuth, M., Volc‐Platzer, B., Hennies, H.C.

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Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss‐of‐function mutation in CSTA von Moosbrugger‐Martinz, V., Jalili, A., Schossig, A.S., Jahn‐Bassler, K., Zschocke, J., Schmuth, M., Stingl, G., Eckl, K.M., Hennies, H.C., Gruber, R.

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Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis von Witt, Heiko, Luck, Werner, Hennies, Hans Christian, Claßen, Martin, Kage, Andreas, Laß, Ulrich, Landt, Olfert, Becker, Michael

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Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23 von Stuhrmann, M, Hennies, HC, Bukhari, IA, Brakensiek, K, Nürnberg, G, Becker, C, Huebener, J, Miranda, MC, Frye-Boukhriss, H, Knothe, S, Schmidtke, J, El-Harith, E-HA

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Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene von Nellen, R.G.L., Steijlen, P.M., Hennies, H.C., Fischer, J., Munro, C.S., Jonkman, M.F., van Steensel, M.A.M., van Geel, M.

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HID and KID syndromes are associated with the same connexin 26 mutation von Van Geel, M., Van Steensel, M.A.M., Küster, W., Hennies, H.C., Happle, R., Steijlen, P.M., König‡, A.

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Towards characterization of palmoplantar keratoderma caused by gain‐of‐function mutation in loricrin: analysis of a family and review of the literature von Gedicke, M.M., Traupe, H., Fischer, B., Tinschert, S., Hennies, H.C.

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Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome von Seifert, W, Holder-Espinasse, M, Spranger, S, Hoeltzenbein, M, Rossier, E, Dollfus, H, Lacombe, D, Verloes, A, Chrzanowska, K H, Maegawa, G H B, Chitayat, D, Kotzot, D, Huhle, D, Meinecke, P, Albrecht, B, Mathijssen, I, Leheup, B, Raile, K, Hennies, H C, Horn, D

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A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3 von Ruf, R G, Berkman, J, Wolf, M T F, Nurnberg, P, Gattas, M, Ruf, E-M, Hyland, V, Kromberg, J, Glass, I, Macmillan, J, Otto, E, Nurnberg, G, Lucke, B, Hennies, H C, Hildebrandt, F

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A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution von Otto, Edgar, Hoefele, Julia, Ruf, Rainer, Mueller, Adelheid M., Hiller, Karl S., Wolf, Matthias T.F., Schuermann, Maria J., Becker, Achim, Birkenhäger, Ralf, Sudbrak, Ralf, Hennies, Hans C., Nürnberg, Peter, Hildebrandt, Friedhelm

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Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK) von Reis, André, Hennies, Hans-Christian, Langbein, Lutz, Digweed, Martin, Mischke, Dietmar, Drechsler, Matthias, Schröck, Evelin, Royer-Pokora, Brigitte, Franke, Werner W., Sperling, Karl, Küster, Wolfang

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A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter von Tukel, T, Uzumcu, A, Gezer, A, Kayserili, H, Yuksel-Apak, M, Uyguner, O, Gultekin, S H, Hennies, H-C, Nurnberg, P, Desnick, R J, Wollnik, B

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A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3 von Uyguner, O, Kayserili, H, Li, Y, Karaman, B, Nürnberg, G, Hennies, HC, Becker, C, Nürnberg, P, Başaran, S, Apak, MY, Wollnik, B

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Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques von Tönnies, H., Hennies, H.-C., Spohr, H.-L., Neitzel, H.

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Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III von Cichon, Sven, Martin, Ludovic, Hennies, Hans Christian, Müller, Felicitas, Van Driessche, Karen, Karpushova, Anna, Stevens, Wim, Colombo, Roberto, Renné, Thomas, Drouet, Christian, Bork, Konrad, Nöthen, Markus M.

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Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis von Haenssle, H. A., Finkenrath, A., Hausser, I., Oji, V., Traupe, H., Hennies, H. C., Neumann, C., Emmert, S.

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SPINK1 mutations in chronic pancreatitis von Witt, Heiko, Hennies, Hans Christian, Becker, Michael

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