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

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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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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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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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Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes von Horn, L-C, Limbach, A, Hoepffner, W, Tröbs, R B, Keller, E, Froster, U-G, Richter, C E, Jakubiczka, S

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Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation von Rueffert, H, Olthoff, D, Deutrich, C, Froster, UG

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GENETIC COUNSELING IN ASSISTED REPRODUCTION: A CASE OF CYSTIC FIBROSIS IDENTIFIED AFTER TWO SUCCESSFUL INTRACYTOPLASMIC SPERM-INJECTION PREGNANCIES von KUJAT, A., ALEXANDER, H., GLANDER, H.-J., FROSTER, U. G.

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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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Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography von Heinritz, W, Kujat, A, Froster, UG

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Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia von Rueffert, H., Kraus, H., Olthoff, D., Deutrich, C., Froster, U.G.

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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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Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases von Werding, N, Holland, H, Hueckel, D, Froster, UG, Häusler, HJ, Kiess, W

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First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome von Strenge, S., Froster, U. G., Wanders, R. J. A., Gartner, J., Maier, E. M., Muntau, A. C., Faber, R.

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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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Potential Errors with Rapid Analysis Techniques: Partial Duplication 21q Resulting from a Paternal Paracentric Insertion Uncovered in Chorionic Villus Sampling by Fluorescence in s... von Ehrhardt, N., Kujat, A., Faber, R., Horn, L.-C., Froster, U.G.

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