A case of Brooke–Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin’s lymphoma von Hunstig, F., Schulz, S., Nieten, I., Froster, U., Boltze, C., Schliemann, S., Hochhaus, A., La Rosée, P.

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Evaluation of the prenatal diagnosis of limb reduction deficiencies von Stoll, C., Wiesel, A., Queisser-Luft, A., Froster, U., Bianca, S., Clementi, M.

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Cysteine-sparing notch3 mutations: Cadasil or cadasil variants? von SCHEID, R, HEINRITZ, W, LEYHE, T, THAI, D. R, SCHOBER, R, STRENGE, S, VON CRAMON, D. Y, FROSTER, U. G

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8 DHPLC in Cystic Fibrosis diagnostics in the German population von Froster, U, Skrzypczak, M, Mierzejewski, M

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Limb defects and chorionic villus sampling: results from an international registry, 1992-94 von Froster, U.G, Jackson, L

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A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene von Heinritz, W., Grunewald, S., Strenge, S., Schütz, A., Froster, U.G., Glander, H.J., Paasch, U., Simon, J.C.

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Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations von Rueffert, H., Olthoff, D., Deutrich, C., Meinecke, C. D., Froster, U. G.

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Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome von Heinritz, W, Moschik, A, Kujat, A, Spranger, S, Heilbronner, H, Demuth, S, Bier, A, Tihanyi, M, Mundlos, S, Gruenauer-Kloevekorn, C, Froster, U G

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A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis von Renner, R, Paasch, U, Simon, JC, Froster, UG, Heinritz, W

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TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings von Gruenauer-Kloevekorn, C, Clausen, I, Weidle, E, Wolter-Roessler, M, Tost, F, Völcker, H E, Schulze, D P, Heinritz, W, Reinhard, T, Froster, U, Duncker, G, Schorderet, D, Auw-Haedrich, C

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Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome von Kohlhase, Jürgen, Wischermann, Annegret, Reichenbach, Herbert, Froster, Ursula, Engel, Wolfgang

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The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers von Sinilnikova, O M, Antoniou, A C, Simard, J, Healey, S, Léoné, M, Sinnett, D, Spurdle, A B, Beesley, J, Chen, X, Greene, M H, Loud, J T, Lejbkowicz, F, Rennert, G, Dishon, S, Andrulis, I L, Domchek, S M, Nathanson, K L, Manoukian, S, Radice, P, Konstantopoulou, I, Blanco, I, Laborde, A L, Durán, M, Osorio, A, Benitez, J, Hamann, U, Hogervorst, F B L, van Os, T A M, Gille, H J P, Peock, S, Cook, M, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Davidson, R, Cole, T, Cook, J, Paterson, J, Brewer, C, Hughes, D J, Coupier, I, Giraud, S, Coulet, F, Colas, C, Soubrier, F, Rouleau, E, Bièche, I, Lidereau, R, Demange, L, Nogues, C, Lynch, H T, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Sutter, C, Deissler, H, Schaefer, D, Froster, U G, Aittomäki, K, Nevanlinna, H, McGuffog, L, Easton, D F, Chenevix-Trench, G, Stoppa-Lyonnet, D

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Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest von Meschede, D, Froster, U G, Bergmann, M, Nieschlag, E

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Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) von Heinritz, W., Paasch, U., Sticherling, M., Wittekind, C., Simon, J.C., Froster, U.G., Renner, R.

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Diaphragmatic hernia in 18p- syndrome von Strenge, Sibylle, Froster, Ursula G.

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Cosegregation of balanced translocation (1;2) with retarded speech development and dyslexia von Froster, U., Schulte-Körne, G., Hebebrand, J., Remschmidt, H.

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Homozygous and heterozygous Arg614Cys mutations (1840C→T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family von Rueffert, H., Olthoff, D., Deutrich, C., Thamm, B., Froster, U.G.

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Popliteal pterygium syndrome von Froster-Iskenius, U G

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Another case of autosomal dominant exstrophy of the bladder von Froster, U. G., Heinritz, W., Bennek, J., Horn, L. C., Faber, R.

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Pre-eclampsia as a ‘Three Stage Problem’—A Workshop Report von Stepan, H, Faber, R, Froster, U.G, Heinritz, W, Wallaschofski, H, Dechend, R, Walther, T, Huppertz, B

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