Search Results - "Froster, U."

Cysteine-sparing notch3 mutations: Cadasil or cadasil variants? by 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 novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin’s lymphoma by Hunstig, F., Schulz, S., Nieten, I., Froster, U., Boltze, C., Schliemann, S., Hochhaus, A., La Rosée, P.

“…Purpose Brooke–Spiegler syndrome (BSS, familial cylindromatosis) is a rare hereditary disease characterized by multiple tumors of the skin appendages…”
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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 by Rueffert, H., Olthoff, D., Deutrich, C., Meinecke, C. D., Froster, U. G.

“…Background: The ryanodine receptor of the skeletal muscle (RYR1) seems to be of outstanding importance in the pathogenesis of malignant hyperthermia (MH). It…”
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A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene by Heinritz, W., Grunewald, S., Strenge, S., Schütz, A., Froster, U.G., Glander, H.J., Paasch, U., Simon, J.C.

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TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings by 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

“…To report the clinical, histopathological and immunohistochemical findings of two novel mutations within the TGFBI gene. The genotype of 41 affected members of…”
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Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome by Heinritz, W, Moschik, A, Kujat, A, Spranger, S, Heilbronner, H, Demuth, S, Bier, A, Tihanyi, M, Mundlos, S, Gruenauer-Kloevekorn, C, Froster, U G

“…Table 1 Clinical data of HOS patients with an identified mutation in the TBX5 gene ID number Age (years) Sex Clinical description Mutation in TBX5 Heart…”
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A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis by Renner, R, Paasch, U, Simon, JC, Froster, UG, Heinritz, W

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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 by 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

“…Background: The TP53 pathway, in which TP53 and its negative regulator MDM2 are the central elements, has an important role in carcinogenesis, particularly in…”
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Limb defects and chorionic villus sampling: results from an international registry, 1992-94 by Froster, U G, Jackson, L

“…Several reports of limb defects occurring among infants exposed to chorionic villus sampling (CVS) during pregnancy resulted in concern about the safety of…”
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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) by Heinritz, W., Paasch, U., Sticherling, M., Wittekind, C., Simon, J.C., Froster, U.G., Renner, R.

“…Summary We report on the results of clinical investigation, pedigree analysis, mutation screening and haplotyping in a family with the syndrome of multiple…”
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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 by Rueffert, H., Olthoff, D., Deutrich, C., Thamm, B., Froster, U.G.

“…The determination of susceptibility to malignant hyperthermia (MH) by genetic investigation is a controversial issue because of the genetic heterogeneity of…”
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Another case of autosomal dominant exstrophy of the bladder by Froster, U. G., Heinritz, W., Bennek, J., Horn, L. C., Faber, R.

“…Objective Exstrophy of the bladder is a rare malformation due to an anterior midline defect. Most cases of this condition with variable expression occur…”
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8 DHPLC in Cystic Fibrosis diagnostics in the German population by Froster, U, Skrzypczak, M, Mierzejewski, M

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

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Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis by Strenge, S, Froster, U G, Kujat, A, Bernhard, M, Merkenschlager, A

“…Clarifying the cause of global developmental and speech delay is of considerable significance in pediatrics. We present the clinical phenotype of the 22q13…”
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Evaluation of the prenatal diagnosis of limb reduction deficiencies by Stoll, C., Wiesel, A., Queisser-Luft, A., Froster, U., Bianca, S., Clementi, M.

“…Ultrasound scans in the mid‐trimester of pregnancy are now a routine part of antenatal care in most European countries. Using data from registries of…”
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Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes by Horn, L-C, Limbach, A, Hoepffner, W, Tröbs, R B, Keller, E, Froster, U-G, Richter, C E, Jakubiczka, S

“…To identify patients who had Ullrich-Turner syndrome (UTS) and were at risk for gonadoblastoma or associated germ cell tumors, molecular genetic analysis was…”
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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 situ hybridization by Ehrhardt, N, Kujat, A, Faber, R, Horn, L-C, Froster, U G

“…We report on partial duplication 21q resulting from a paternal insertion identified during prenatal diagnosis. While performing interphase fluorescence in situ…”
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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 by Rueffert, H, Olthoff, D, Deutrich, C, Froster, UG

“…Molecular genetic methods are used with caution for determining positive malignant hyperthermia (MH) disposition in clinical MH diagnosis because of the…”
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Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography by Heinritz, W, Kujat, A, Froster, UG

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