Search Results - "Hennies, H"

CEDNIK syndrome results from loss-of-function mutations in SNAP29 by 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.

“…Summary Background  CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis and keratoderma) syndrome is a rare genodermatosis which was shown 5 years ago in one…”
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Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis by 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.

“…Background Autosomal‐recessive congenital ichthyosis (ARCI) is a heterogeneous group of ichthyoses presenting at birth. Self‐improving congenital ichthyosis…”
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Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations by 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.

“…Summary Autosomal recessive congenital ichthyosis (ARCI) caused by mutations in CYP4F22 is very rare. CyP4F22, a protein of the cytochrome‐P450 family 4,…”
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The importance of genetic susceptibility in Dupuytren's disease by 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.

“…Dupuytren's disease (DD) is a progressive fibromatosis that causes the formation of nodules and cords in the palmar aponeurosis leading to flexion contracture…”
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Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss‐of‐function mutation in CSTA by 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.

“…Summary Autosomal recessive exfoliative ichthyosis (AREI) results from mutations in CSTA, encoding cysteine protease inhibitor A (cystatin A). We present a…”
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Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23 by 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

“…Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) are pigmentary dermatoses most commonly seen in Japan. Both…”
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Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene by 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 by Van Geel, M., Van Steensel, M.A.M., Küster, W., Hennies, H.C., Happle, R., Steijlen, P.M., König‡, A.

“…Summary Background Keratitis–ichthyosis–deafness (KID) syndrome is a debilitating ectodermal dysplasia that predisposes patients to develop squamous cell…”
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Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis by Hennies, Hans Christian, Landt, Olfert, Luck, Werner, Kage, Andreas, Laß, Ulrich, Witt, Heiko, Claßen, Martin, Becker, Michael

“…Chronic pancreatitis (CP) is a continuing or relapsing inflammatory disease of the pancreas. In approximately one-third of all cases, no aetiological factor…”
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Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome by 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

“…Cohen syndrome (CS) is an autosomal recessive disorder with variability in the clinical manifestations, characterised by mental retardation, postnatal…”
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A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3 by 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

“…[...]reduced penetrance for BOR has been assumed. 4 The major feature of BOR, which occurs in 93% of patients, is HL, which can be conductive, sensorineural,…”
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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 by Gedicke, M.M., Traupe, H., Fischer, B., Tinschert, S., Hennies, H.C.

“…Summary Loricrin keratoderma is an autosomal dominant palmoplantar keratoderma heterogeneous in clinical appearance. We report a family with diffuse ichthyosis…”
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A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter by 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

“…Background: Congenital fibrosis of the extraocular muscles (CFEOM) is a heterogeneous group of disorders that may be associated with other anomalies. The…”
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A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3 by Uyguner, O, Kayserili, H, Li, Y, Karaman, B, Nürnberg, G, Hennies, HC, Becker, C, Nürnberg, P, Başaran, S, Apak, MY, Wollnik, B

“…Autosomal recessive inheritance of non‐syndromic mental retardation (ARNSMR) may account for approximately 25% of all patients with non‐specific mental…”
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Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis by Haenssle, H. A., Finkenrath, A., Hausser, I., Oji, V., Traupe, H., Hennies, H. C., Neumann, C., Emmert, S.

“…Summary Ichthyoses are a heterogenous group of keratinization disorders, which are often associated with hypohidrosis. We report a 42‐year‐old man with…”
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Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK) by Küster, Wolfang, Digweed, Martin, Hennies, Hans-Christian, Mischke, Dietmar, Reis, André, Langbein, Lutz, Royer-Pokora, Brigitte, Sperling, Karl, Franke, Werner W, Schröck, Evelin, Drechsler, Matthias

“…We have isolated the gene for human type I keratin 9 (KRT9) and localised it to chromosome 17q21. Patients with epidermolytic palmoplantar keratoderma (EPPK),…”
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Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques by Tönnies, H, Hennies, H C, Spohr, H L, Neitzel, H

“…We report on the conventional cytogenetic and fluorescence in situ hybridization (FISH) results obtained for a 3.5-year-old girl with developmental and…”
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SPINK1 mutations in chronic pancreatitis by Witt, Heiko, Hennies, Hans Christian, Becker, Michael

“…GASTROENTEROLOGY 2001;120:1060-1061…”
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De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes by Tönnies, Holger, Schulze, Ilka, Hennies, Hans-Christian, Neumann, Luitgard Margarete, Keitzer, Rolf, Neitzel, Heidemarie

“…Furthermore, she had severe feeding problems with gastro-oesophageal reflux and vomiting. Because of increasing vomiting and a lack of weight gain, a…”
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Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36 by Thiele, H, McCann, C, van’t Padje, S, Schwabe, G C, Hennies, H C, Camera, G, Opitz, J, Laxova, R, Mundlos, S, Nürnberg, P

“…27 Recently this form of TPT/PPD has been shown to be caused by mutations in a Shh long range cis-regulatory element, located within intron 5 of the adjacent…”
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