Institut* für angewandte Humangenetik und Onkogenetik Professor Froster


1: Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG. New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. Ann Hum Genet. 2009 May;73(Pt 3):283-91. Epub 2009 Mar 25. PubMed PMID: 19344451.

2: Koifman A, Shannon P, Kingdom J, Chitayat D. Diaphragmatic hernia and limb abnormalities syndrome (Froster syndrome). Clin Dysmorphol. 2009 Jul;18(3):151-3. PubMed PMID: 19318925.

3: Heinritz W, Strenge S, Kujat A, Hockel M, Froster UG. Different phenotypes including gynecological cancer in three female patients with Peutz-Jeghers syndrome and mutations in the STK11 gene. Onkologie. 2008 Nov;31(11):625-8. Epub 2008 Oct 27. PubMed PMID: 19145097.

4: Gruenauer-Kloevekorn C, Clausen I, Weidle E, Wolter-Roessler M, Tost F, Völcker HE, Schulze DP, Heinritz W, Reinhard T, Froster U, Duncker G, Schorderet D, Auw-Haedrich C. TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings. Br J Ophthalmol. 2009 Jul;93(7):932-7. Epub 2008 Nov 10. PubMed PMID: 19001012.

5: Böhm J, Heinritz W, Craig A, Vujic M, Ekman-Joelsson BM, Kohlhase J, Froster U. Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein. BMC Med Genet. 2008 Oct 1;9:88. PubMed PMID: 18828908; PubMed Central PMCID: PMC2567295.

6: Strenge S, Froster UG, Kujat A, Bernhard M, Merkenschlager A. [Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis]. Klin Padiatr. 2008 Sep-Oct;220(5):318-20. German. PubMed PMID: 18814345.

7: Gruenauer-Kloevekorn C, Braeutigam S, Froster UG, Duncker GI. Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings. Graefes Arch Clin Exp Ophthalmol. 2009 Jan;247(1):93-9. Epub 2008 Sep 6. PubMed PMID: 18777038.

8: Scheid R, Heinritz W, Leyhe T, Thal DR, Schober R, Strenge S, von Cramon DY, Froster UG. Cysteine-sparing notch3 mutations: cadasil or cadasil variants? Neurology. 2008 Sep 2;71(10):774-6. PubMed PMID: 18765654.

9: Rebbeck TR, Antoniou AC, Llopis TC, Nevanlinna H, Aittomäki K, Simard J, Spurdle AB; KConFab, Couch FJ, Pereira LH, Greene MH, Andrulis IL; Ontario Cancer Genetics Network, Pasche B, Kaklamani V; Breast Cancer Family Registry, Hamann U, Szabo C, Peock S, Cook M, Harrington PA, Donaldson A, Male AM, Gardiner CA, Gregory H, Side LE, Robinson AC, Emmerson L, Ellis I; EMBRACE, Peyrat JP, Fournier J, Vennin P, Adenis C, Muller D, Fricker JP, Longy M, Sinilnikova OM, Stoppa-Lyonnet D; GEMO, Schmutzler RK, Versmold B, Engel C, Meindl A, Kast K, Schaefer D, Froster UG, Chenevix-Trench G, Easton DF. No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study. Breast Cancer Res Treat. 2009 May;115(1):185-92. Epub 2008 Jun 4. PubMed PMID: 18523885; PubMed Central PMCID: PMC2700286.

10: Brauer VF, Reichenberger F, Müller A, Steinert M, Froster UG, Wirtz HR, Schauer J. Successful resection of a re-occurred pulmonary myosarcoma in a patient with turner syndrome mosaic. Sarcoma. 2002;6(4):141-3. PubMed PMID: 18521351; PubMed Central PMCID: PMC2395496.

11: Gruenauer-Kloevekorn C, Braeutigam S, Heinritz W, Froster UG, Duncker GI. Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. Graefes Arch Clin Exp Ophthalmol. 2008 Oct;246(10):1441-7. Epub 2008 May 24. PubMed PMID: 18500531.

12: Renner R, Paasch U, Simon JC, Froster UG, Heinritz W. A new mutation in the GJB3 gene in a patient with erythrokeratodermia variabilis. J Eur Acad Dermatol Venereol. 2008 Jun;22(6):750-1. PubMed PMID: 18482034.

13: Syrbe S, Eberle K, Strenge S, Bernhard MK, Herbertz S, Bierbach U, Hirsch W, Froster UG, Kiess W, Merkenschlager A. [Neurofibromatosis type 1 and associated clinical abnormalities in 27 children]. Klin Padiatr. 2007 Nov-Dec;219(6):326-32. German. PubMed PMID: 18183640.

14: Heinritz W, Paasch U, Sticherling M, Wittekind C, Simon JC, Froster UG, Renner R. Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis and renal cell cancer (HLRCC). Ann Hum Genet. 2008 Jan;72(Pt 1):35-40. Epub 2006 Oct 1. PubMed PMID: 17908262.

15: Strenge S, Heinritz W, Zweier C, Rauch A, Rolle U, Merkenschlager A, Froster UG. Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. Am J Med Genet A. 2007 Jul 1;143A(13):1528-30. PubMed PMID: 17567886.

16: Kujat A, Veith VP, Faber R, Froster UG. Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I. Fetal Diagn Ther. 2007;22(2):155-8. Epub 2006 Nov 28. PubMed PMID: 17139175.

17: Strenge S, Kujat A, Zelante L, Froster UG. A microdeletion 22q11.2 can resemble Shprintzen-Goldberg omphalocele syndrome. Am J Med Genet A. 2006 Dec 15;140(24):2838-9. PubMed PMID: 17103454.

18: Grünauer-Kloevekorn C, Braeutigam S, Weidle E, Wolter-Roessler M, Tost F, Auw-Haedrich C, Völcker HE, Heinritz W, Froster U, Duncker G. [Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]. Klin Monatsbl Augenheilkd. 2006 Oct;223(10):829-36. German. PubMed PMID: 17063427.

19: Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J. Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Hum Mutat. 2006 Sep;27(9):975-6. PubMed PMID: 16917909.

20: Falk M, Vojtísková M, Lukás Z, Kroupová I, Froster U. Simple procedure for automatic detection of unstable alleles in the myotonic dystrophy and Huntington's disease loci. Genet Test. 2006 Summer;10(2):85-97. PubMed PMID: 16792511.

21: Gadzicki D, Wingen LU, Teige B, Horn D, Bosse K, Kreuz F, Goecke T, Schäfer D, Voigtländer T, Fischer B, Froster U, Welling B, Debatin I, Weber BH, Schönbuchner I, Nippert I, Schlegelberger B; German Cancer Aid Consortium on Hereditary Breast and Ovarian Cancer. Communicating BRCA1 and BRCA2 genetic test results. J Clin Oncol. 2006 Jun 20;24(18):2969-70; author reply 2970-1. PubMed PMID: 16782939.

22: Lüleyap HU, Alptekin D, Pazarbasi A, Kasap M, Kasap H, Demirhindi H, Mungan N, Ozer G, Froster UG. The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene. Mutat Res. 2006 Oct 10;601(1-2):39-45. Epub 2006 Jun 12. PubMed PMID: 16765994.

23: Kujat A, Schulz MD, Strenge S, Froster UG. Renal malformations in deletion 22q11.2 patients. Am J Med Genet A. 2006 Jul 15;140(14):1601-2. PubMed PMID: 16761295.

24: Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V. A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. Am J Med Genet A. 2006 Jun 1;140(11):1223-7. PubMed PMID: 16688751.

25: Heinritz W, Grunewald S, Strenge S, Schütz A, Froster UG, Glander HJ, Paasch U, Simon JC. A case of Brooke-Spiegler syndrome with a new mutation in the CYLD gene. Br J Dermatol. 2006 May;154(5):992-4. PubMed PMID: 16634909.

26: Grünauer-Kloevekorn C, Bräutigam S, Wolter-Roessler M, Tost F, Weidle E, Froster U, Duncker GI. [Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?]. Klin Monatsbl Augenheilkd. 2005 Dec;222(12):1017-23. German. PubMed PMID: 16380889.

27: Heinritz W, Shou L, Moschik A, Froster UG. The human TBX5 gene mutation database. Hum Mutat. 2005 Oct;26(4):397. PubMed PMID: 16134140.

28: Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rösler B. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat. 2005 Sep;26(3):176-83. PubMed PMID: 16086360.

29: Gruenauer-Kloevekorn C, Reichel MB, Duncker GI, Froster UG. Molecular genetic and ocular findings in patients with holt-oram syndrome. Ophthalmic Genet. 2005 Mar;26(1):1-8. PubMed PMID: 15823919.

30: Fischer S, Drenckhahn C, Wolf C, Eschrich K, Kellermann S, Froster UG, Schober R. Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene. Clin Neuropathol. 2005 Mar-Apr;24(2):77-85. PubMed PMID: 15803807.

31: Horn LC, Limbach A, Hoepffner W, Tröbs RB, Keller E, Froster UG, Richter CE, Jakubiczka S. Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes. Pediatr Dev Pathol. 2005 Mar-Apr;8(2):197-203. Epub 2005 Mar 8. PubMed PMID: 15747103.

32: Heinritz W, Pretzsch M, Koall S, Matzen PF, Froster UG. [Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family]. Orthopade. 2005 May;34(5):470-6. German. PubMed PMID: 15739063.

33: Heinritz W, Moschik A, Kujat A, Spranger S, Heilbronner H, Demuth S, Bier A, Tihanyi M, Mundlos S, Gruenauer-Kloevekorn C, Froster UG. Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome. Heart. 2005 Mar;91(3):383-4. PubMed PMID: 15710732; PubMed Central PMCID: PMC1768780.

34: Heinritz W, Kotzot D, Heinze S, Kujat A, Kleemann WJ, Froster UG. Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome. Am J Med Genet A. 2005 Jan 15;132A(2):198-201. PubMed PMID: 15578587.

35: Krupp W, Geiger K, Schober R, Siegert G, Froster UG. Cytogenetic and molecular cytogenetic analyses in diffuse astrocytomas. Cancer Genet Cytogenet. 2004 Aug;153(1):32-8. PubMed PMID: 15325091.

36: Stepan H, Faber R, Froster UG, Heinritz W, Wallaschofski H, Dechend R, Walther T, Huppertz B. Pre-eclampsia as a 'three stage problem'--a workshop report. Placenta. 2004 Jul;25(6):585-7. PubMed PMID: 15190873.

37: Froster UG, Heinritz W, Bennek J, Horn LC, Faber R. Another case of autosomal dominant exstrophy of the bladder. Prenat Diagn. 2004 May;24(5):375-7. PubMed PMID: 15164413.

38: Strenge S, Froster UG, Wanders RJ, Gartner J, Maier EM, Muntau AC, Faber R. First-trimester increased nuchal translucency as a prenatal sign of Zellweger syndrome. Prenat Diagn. 2004 Feb;24(2):151-3. PubMed PMID: 14974126.

39: Strenge S, Froster UG. Diaphragmatic hernia in 18p- syndrome. Am J Med Genet A. 2004 Feb 15;125A(1):97-9. Review. PubMed PMID: 14755475.

40: Rueffert H, Olthoff D, Deutrich C, Schober R, Froster UG. A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. Am J Med Genet A. 2004 Jan 30;124A(3):248-54. PubMed PMID: 14708096.

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Institut* für angewandte Humangenetik und Onkogenetik Professor Froster

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