Cysteine-sparing notch3 mutations: cadasil or cadasil variants?
Scheid, R, Heinritz, W, Leyhe, T, Thal, D R, Schober, R, Strenge, S, von Cramon, D Y, Froster, U G
Published in Neurology (02.09.2008)
Published in Neurology (02.09.2008)
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Journal Article
A case of Brooke–Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin’s lymphoma
Hunstig, F., Schulz, S., Nieten, I., Froster, U., Boltze, C., Schliemann, S., Hochhaus, A., La Rosée, P.
Published in Journal of cancer research and clinical oncology (01.04.2016)
Published in Journal of cancer research and clinical oncology (01.04.2016)
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Journal Article
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
Rueffert, H., Olthoff, D., Deutrich, C., Meinecke, C. D., Froster, U. G.
Published in Acta anaesthesiologica Scandinavica (01.07.2002)
Published in Acta anaesthesiologica Scandinavica (01.07.2002)
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Journal Article
A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene
Heinritz, W., Grunewald, S., Strenge, S., Schütz, A., Froster, U.G., Glander, H.J., Paasch, U., Simon, J.C.
Published in British journal of dermatology (1951) (01.05.2006)
Published in British journal of dermatology (1951) (01.05.2006)
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Journal Article
TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings
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
Published in British journal of ophthalmology (01.07.2009)
Published in British journal of ophthalmology (01.07.2009)
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Journal Article
Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome
Heinritz, W, Moschik, A, Kujat, A, Spranger, S, Heilbronner, H, Demuth, S, Bier, A, Tihanyi, M, Mundlos, S, Gruenauer-Kloevekorn, C, Froster, U G
Published in Heart (British Cardiac Society) (01.03.2005)
Published in Heart (British Cardiac Society) (01.03.2005)
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Journal Article
A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis
Renner, R, Paasch, U, Simon, JC, Froster, UG, Heinritz, W
Published in Journal of the European Academy of Dermatology and Venereology (01.06.2008)
Published in Journal of the European Academy of Dermatology and Venereology (01.06.2008)
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Journal Article
The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
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
Published in British journal of cancer (20.10.2009)
Published in British journal of cancer (20.10.2009)
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Journal Article
Evidence for a Founder Effect of the Germline Fumarate Hydratase Gene Mutation R58P causing Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
Heinritz, W., Paasch, U., Sticherling, M., Wittekind, C., Simon, J.C., Froster, U.G., Renner, R.
Published in Annals of human genetics (01.01.2008)
Published in Annals of human genetics (01.01.2008)
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Journal Article
Homozygous and heterozygous Arg614Cys mutations (1840C→T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family
Rueffert, H., Olthoff, D., Deutrich, C., Thamm, B., Froster, U.G.
Published in British Journal of Anaesthesia (01.08.2001)
Published in British Journal of Anaesthesia (01.08.2001)
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Journal Article
Conference Proceeding
Another case of autosomal dominant exstrophy of the bladder
Froster, U. G., Heinritz, W., Bennek, J., Horn, L. C., Faber, R.
Published in Prenatal diagnosis (01.05.2004)
Published in Prenatal diagnosis (01.05.2004)
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Journal Article
Pre-eclampsia as a ‘Three Stage Problem’—A Workshop Report
Stepan, H, Faber, R, Froster, U.G, Heinritz, W, Wallaschofski, H, Dechend, R, Walther, T, Huppertz, B
Published in Placenta (01.07.2004)
Published in Placenta (01.07.2004)
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Journal Article
Conference Proceeding
Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis
Strenge, S, Froster, U G, Kujat, A, Bernhard, M, Merkenschlager, A
Published in Klinische Pädiatrie (01.09.2008)
Published in Klinische Pädiatrie (01.09.2008)
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Evaluation of the prenatal diagnosis of limb reduction deficiencies
Stoll, C., Wiesel, A., Queisser-Luft, A., Froster, U., Bianca, S., Clementi, M.
Published in Prenatal diagnosis (01.10.2000)
Published in Prenatal diagnosis (01.10.2000)
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Journal Article
Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes
Horn, L-C, Limbach, A, Hoepffner, W, Tröbs, R B, Keller, E, Froster, U-G, Richter, C E, Jakubiczka, S
Published in Pediatric and developmental pathology (01.03.2005)
Published in Pediatric and developmental pathology (01.03.2005)
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Journal Article
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
Ehrhardt, N., Kujat, A., Faber, R., Horn, L.-C., Froster, U.G.
Published in Fetal diagnosis and therapy (01.01.2009)
Published in Fetal diagnosis and therapy (01.01.2009)
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