Wissenschaftliche Publikationen
Wir führen fortlaufend Neuerungen in die tägliche Diagnostik ein und engagieren uns in Studienprojekten mit entsprechenden Fragestellungen. Die Ergebnisse sind in Fachzeitschriften publiziert. Hier finden Sie eine Liste ausgewählter Publikationen (peer reviewed Journale), an denen Bioscientia-Mitarbeiter (hier fett gesetzt) beteiligt waren. Die gesamte Übersicht finden Sie hier
Publikationen
2024 | 2023 | 2022 | 2021 | 2020 |2019 |2018 | 2017 | 2016 |2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 |
2001 | 2000 | 1999 | 1998 | 1997
Masuda S, Lemaitre F, Barten MJ, Bergan S, Shipkova M, van Gelder T, Vinks S, Wieland E, Bornemann-Kolatzki K, Brunet M, de Winter B, Dieterlen MT, Elens L, Ito T, Johnson-Davis K, Kunicki PK, Lawson R, Lloberas N, Marquet P, Millan O, Mizuno T, Moes DJAR, Noceti O, Oellerich M, Pattanaik S, Pawinski T, Seger C, van Schaik R, Venkataramanan R, Walson P, Woillard JB, Langman LJ. Everolimus Personalized Therapy: Second Consensus Report by the International Association of Therapeutic Drug Monitoring and Clinical Toxicology. Ther Drug Monit. 2024 Sep 25. doi: 10.1097/FTD.0000000000001250. Epub ahead of print. PMID: 39331837.
Shipkova M, Wieland E, Schütz E. Toward Analytical Performance Specifications for Immunosuppressive Drug Quantification in Transplantation: An Opinion Article. Ther Drug Monit. 2024 Oct 2. doi: 10.1097/FTD.0000000000001261. Epub ahead of print. PMID: 39357035.
Kleinebenne, Lina; Röhrig, Waldemar; Ebach, Fabiana; Reutter, Heik; Pankraz, Alexander; Heuchel, Katharina Monika; Müller, Andreas; Hilger, Alina Christine. The components of arginine and methylarginine metabolism are indicative of altered kidney function in intrauterine growth-restricted neonates. Journal of Hypertension 42(11):p 1940-1947, November 2024.
Torsten Arndt und Karsten Stemmerich. Arsen -Vom Fliegenteller zur Arsenik-Suppe -Teil 3. Toxichem Krimtech 2024;91(1):3-24.
Torsten Arndt und Karsten Stemmerich. Zur aktuellen Diskussion um mögliche toxikologische Belastungen beim Umgang mit arsenfarben-haltigen Bibliotheksbeständen. Toxichem Krimtech 2024;91(2):129-132.
Torsten Arndt und Karsten Stemmerich. Zu Ausschluss und Erkennung einer arbeitsplatzbedingt erhöhten Arsenaufnahme in Bibliotheken mit historischem Schriftgut. Toxichem Krimtech 2024;91(3):228-230.
Torsten Arndt und Karsten Stemmerich. Zur Bedeutung der Hintergrundbelastung bei toxikologischen Untersuchungen an historischem Schriftgut. Bibliotheksdienst 2024; 58(5): 248–258.
Torsten Arndt und Karsten Stemmerich. Arsen - Vom Fliegenteller zur Arsenik-Suppe - Teil 2. Toxichem Krimtech 2023;90(3):381-400.
Torsten Arndt und Karsten Stemmerich. Arsen - Vom Fliegenteller zur Arseniksuppe - Teil 1. Toxichem Krimtech 2023;90(2):87-109.
Maria Shipkova und Eberhard Wieland: Therapeutisches Drug Monitoring: Ein Gebiet im Wandel, Trillium Diagnostik. 2023 (4).
Karsten Stemmerich und Torsten Arndt. Schwere Drogen - schwere Zeiten fürs Labor? Toxichem Krimtech 2022;89(3):96-109.
Karsten Stemmerich, Adrian Sewell, Torsten Arndt. Deuterated drugs - weighty times ahead for the lab? TIAFT Bulletin 2022;52(4):24-33.
Arndt T, Jochem G, Stemmerich K. Thallium - von Crookesʼ grünem Zweig zu Christies fahlem Pferd. Toxichem Krimtech 2022;89(1):5-21.
Arndt T. Phosphin und Phosphide. Toxichem Krimtech 2022;89(2):50-56.
Arndt T. Faszinosum Interdisziplinarität - Der Blick über den Tellerrand. Toxichem Krimtech 2022;89(2):60-61.
Carolin Ade, Joachim Pum, Iris Abele, Lubna Raggub, Dirk Bockmühl, Bernhard Zöllner: Analysis of cycle threshold values in SARS-CoV-2-PCR in a long-term study.
Journal of Clinical Virology 138 (2021) 104791
Dietrich Mack , Barbara Christine Gärtner, Annika Rössler , Janine Kimpel , Katrin Donde , Oliver Harzer , Werner Krutsch , Dorothee von Laer , Tim Meyer: Prevalence of SARS-CoV-2 IgG antibodies in a large prospective cohort study of elite football players in Germany (May-June 2020): implications for a testing protocol in asymptomatic individuals and estimation of the rate of undetected cases.
Clin Microbiol Infect. 2021 Mar;27(3):473.e1-473.e4. doi: 10.1016/j.cmi.2020.11.033. Epub 2020 Dec 5.
Arndt T. Cyanit - Die Endung macht das Gift. Toxichem Krimtech 2020;87(3):117-119.
Arndt T, Sewell AC. Suicide without a Victim. TIAFT Bulletin 2021;51(1)4-5.
Rösner S, Kamalanabhaiah S, Küsters U, Kolbert M, Pfennigwerth N, Mack D. Evaluation of a novel immunochromatographic lateral flow assay for rapid detection of OXA-48, NDM, KPC and VIM carbapenemases in multidrug-resistant Enterobacteriaceae. J Med Microbiol. 2019 Jan 21. doi: 10.1099/jmm.0.000925. [Epub ahead of print]
Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.
Stemmerich K, Schulz K, Peschel A, Boettcher M, Arndt T. Weder Zauberpilz noch Krötenschleim - Zur Differenzierung von Bufotenin und Psilocin mit dem Toxtyper. Toxichem Krimtech 2021;88(1):51-62.
Stemmerich K, Arndt T. Geschichten, die der "Baselt" nicht erzählt - Auf Spurensuche zu den Strukturformeln auf den Einbänden der zwölf Auflagen. Toxichem Krimtech 2021;88(2):115-128.
Stemmerich K, Sewell A, Arndt T. Untold Stories from the Baselt: What the Covers Don’t Tell Us. TIAFT Bulletin 2021;51(2):46-52.
Stemmerich K, Schulz K, Peschel A, Boettcher M, Arndt T. Magic Mushroom or Toad Slime? Distinguishing Between Bufotenin and Psilocin with the Toxtyper. TIAFT Bulletin 2021;51(4):4-12.
Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P. Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PLoS One. 2018 Dec 13;13(12):e0207958. doi: 10.1371/journal.pone.0207958. eCollection 2018.
Méric, G., L. Mageiros, J. Pensar, M. Laabei, K. Yahara, B. Pascoe, N. Kittiwan, P. Tadee, V. Post, S. Lamble, R. Bowden , J. E. Bray, M. Morgenstern, K. A. Jolley, M.C.J. Maiden, E. J. Feil, X. Didelot, M. Miragaia, H. de Lencastre, T.F. Moriarty, H. Rohde, R. Massey, D. Mack, J. Corander, and S.K. Sheppard. Disease-associated genotypes of the commensal skin bacterium Staphylococcus epidermidis. Nat. Commun. 9, 5034 (2018).
Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O’Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK. Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171.
Abdelkader E, Brandau O, Bergmann C, AlSalamah N, Nowilaty S, Schatz P. Novel causative variants in patients with achromatopsia. Ophthalmic Genet. 2018 Dec;39(6):678-683. doi: 10.1080/13816810.2018.1522653. Epub 2018 Oct 5.
Fuchs T, Hahn M, Ries L, Giesler S, Busch S, Wang C, Han J, Schulze TJ, Puellmann K, Beham AW, Kaminski WE, Neumaier M. Expression of combinatorial immunoglobulins in macrophages in the tumor microenvironment. PLoS One. 2018 Sep 21;13(9):e0204108. doi: 10.1371/journal.pone.0204108. eCollection 2018.
Müller PL, Pfau M, Möller PT, Nadal J, Schmid M, Lindner M, de Sisternes L, Stöhr H, Weber BHF, Neuhaus C, Herrmann P, Schmitz-Valckenberg S, Holz FG, Fleckenstein M. Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study. Invest Ophthalmol Vis Sci. 2018 Mar 20;59(4):AMD122-AMD131. doi: 10.1167/iovs.18-23819.
Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, Nürnberg P, Thiele H, Li Y, Wollnik B, Brockmann K. Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J Med Genet. 2018 Aug 17. pii: jmedgenet-2018-105470. doi: 10.1136/jmedgenet-2018-105470. [Epub ahead of print]
Hoff S, Epting D, Falk N, Schroda S, Braun DA, Halbritter J, Hildebrandt F, Kramer-Zucker A, Bergmann C, Walz G, Lienkamp SS. The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development. J Biol Chem. 2018 Sep 28;293(39):15243-15255. doi: 10.1074/jbc.RA117.000847. Epub 2018 Aug 15.
Arndt T, Dick M, Müller MK, Flegel T, Schröfel S, Stemmerich K. Zur Drogenanalytik in der Veterinärmedizin – Crystal Meth-Intoxikation eines Hundewelpen? Fallbeschreibung. Kleintiermedizin 2018 ; Nr. 5/18 September/Oktober, 200-203.
Spartà G, Gaspert A, Neuhaus TJ, Weitz M, Mohebbi N, Odermatt U, Zipfel PF, Bergmann C, Laube GF. Membranoproliferative glomerulonephritis and C3 glomerulopathy in children: change in treatment modality? A report of a case series. Clin Kidney J. 2018 Aug;11(4):479-490. doi: 10.1093/ckj/sfy006. Epub 2018 Feb 28.
Stemmerich K. Glyphosat – die Mischung macht’s.Toxichem Krimtech 2018; 85(3), 105-109.
Arndt T. Normal Values and Reference Intervals: Reference Systems in Clinical Chemistry and Toxicology. TIAFT Bulletin 2018; 48(2), 4-8.
Molinari E, Decker E, Mabillard H, Tellez J, Srivastava S, Raman S, Wood K, Kempf C, Alkanderi S, Ramsbottom SA, Miles CG, Johnson CA, Hildebrandt F, Bergmann C, Sayer JA. Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. Eur J Hum Genet. 2018 Dec;26(12):1791-1796. doi: 10.1038/s41431-018-0212-5. Epub 2018 Jul 12.
Rinschen MM, Gödel M, Grahammer F, Zschiedrich S, Helmstädter M, Kretz O, Zarei M, Braun DA, Dittrich S, Pahmeyer C, Schroder P, Teetzen C, Gee H, Daouk G, Pohl M, Kuhn E, Schermer B, Küttner V, Boerries M, Busch H, Schiffer M, Bergmann C, Krüger M, Hildebrandt F, Dengjel J, Benzing T, Huber TB. A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes. Cell Rep. 2018 May 22;23(8):2495-2508. doi: 10.1016/j.celrep.2018.04.059.
Rösner S, Gehlweiler K, Küsters U, Kolbert M, Hübner K, Pfennigwerth N, Mack D. Comparison of two commercial carbapenemase gene confirmatory assays in multiresistant Enterobacteriaceae and Acinetobacter baumannii-complex. PLoS One. 2018 May 21;13(5):e0197839. doi: 10.1371/journal.pone.0197839. eCollection 2018.
Hahn C, Beyreiß R, Stemmerich K, Arndt T. Detection of boric acid in urine using curcuma test strips and ist role in ethyl glucuronide immunoassay screenings. Toxichem Krimtech 2018; 85(3), 117-123.
Burgmaier K, Kunzmann K, Ariceta G, Bergmann C, Buescher AK, Burgmaier M, Dursun I, Duzova A, Eid L, Erger F, Feldkoetter M, Galiano M, Geßner M, Goebel H, Gokce I, Haffner D, Hooman N, Hoppe B, Jankauskiene A, Klaus G, König J, Litwin M, Massella L, Mekahli D, Melek E, Mir S, Pape L, Prikhodina L, Ranchin B, Schild R, Seeman T, Sever L, Shroff R, Soliman NA, Stabouli S, Stanczyk M, Tabel Y, Taranta-Janusz K, Testa S, Thumfart J, Topaloglu R, Weber LT, Wicher D, Wühl E, Wygoda S, Yilmaz A, Zachwieja K, Zagozdzon I, Zerres K; ESCAPE Study Group; GPN Study Group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. J Pediatr. 2018 Aug;199:22-28.e6. doi: 10.1016/j.jpeds.2018.03.052. Epub 2018 May 9.
Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H, Muller J. Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. Hum Mutat. 2018 Jul;39(7):983-992. doi: 10.1002/humu.23539. Epub 2018 May 8.
Eichinger A, Ponsel S, Bergmann C, Günthner R, Hoefele J, Amann K, Lange-Sperandio B. Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1. Pediatr Nephrol. 2018 Jul;33(7):1269-1272. doi: 10.1007/s00467-018-3961-z. Epub 2018 Apr 16.
Gencay M, Seffner A, Pabinger S, Gautier J, Gohl P, Weizenegger M, Neofytos D, Batrla R, Woeste A, Kim HS, Westergaard G, Reinsch C, Brill E, Thuy PTT, Hoang BH, Sonderup M, Spearman CW, Brancaccio G, Fasano M, Gaeta GB, Santantonio T, Kaminski WE. Detection of in vivo hepatitis B virus surface antigen mutations-A comparison of four routine screening assays. J Viral Hepat. 2018 Oct;25(10):1132-1138. doi: 10.1111/jvh.12915. Epub 2018 Jun 7.
Kim HS, Chen X, Xu M, Yan C, Liu Y, Deng H, Hoang BH, Thuy PTT, Wang T, Yan Y, Zeng Z, Gencay M, Westergaard G, Pabinger S, Kriegner A, Nauck M, Seffner A, Gohl P, Hübner K, Kaminski WE. Frequency of hepatitis B surface antigen variants (HBsAg) in hepatitis B virus genotype B and C infected East- and Southeast Asian patients: Detection by the Elecsys® HBsAg II assay. J Clin Virol. 2018 Jun;103:48-56. doi: 10.1016/j.jcv.2018.04.005. Epub 2018 Apr 5.
Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P. Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0.
Lefebvre M, Dieux-Coeslier A, Baujat G, Schaefer E, Judith SO, Bazin A, Pinson L, Attie-Bitach T, Baumann C, Fradin M, Pierquin G, Julia S, Quélin C, Doray B, Berg S, Vincent-Delorme C, Lambert L, Bachmann N, Lacombe D, Isidor B, Laurent N, Joelle R, Blanchet P, Odent S, Kervran D, Leporrier N, Abel C, Segers K, Guiliano F, Ginglinger-Fabre E, Selicorni A, Goldenberg A, El Chehadeh S, Francannet C, Demeer B, Duffourd Y, Thauvin-Robinet C, Verloes A, Cormier-Daire V, Riviere JB, Faivre L, Thevenon J. Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. Med Genet. 2018 Jun;55(6):422-429. doi: 10.1136/jmedgenet-2017-104939. Epub 2018 Feb 19.
Gencay M, Vermeulen M, Neofytos D, Westergaard G, Pabinger S, Kriegner A, Seffner A, Gohl P, Huebner K, Nauck M, Kaminski WE. Substantial variation in the hepatitis B surface antigen (HBsAg) in hepatitis B virus (HBV)-positive patients from South Africa: Reliable detection of HBV by the Elecsys HBsAg II assay. J Clin Virol. 2018 Apr;101:38-43. doi: 10.1016/j.jcv.2018.01.011. Epub 2018 Feb 6.
Welte T, Arnold F, Kappes J, Seidl M, Häffner K, Bergmann C, Walz G, Neumann-Haefelin E. Treating C3 glomerulopathy with eculizumab. BMC Nephrol. 2018 Jan 12;19(1):7. doi: 10.1186/s12882-017-0802-4.
Eisenberger T, Di Donato N, Decker C, Delle Vedove A, Neuhaus C, Nürnberg G, Toliat M, Nürnberg P, Mürbe D, Bolz HJ. A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. Genet Med. 2018 Jun;20(6):614-621. doi: 10.1038/gim.2017.155. Epub 2017 Oct 12.
Kakar N, Horn D, Decker E, Sowada N, Kubisch C, Ahmad J, Borck G, Bergmann C. Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies. Am J Med Genet A. 2018 Feb;176(2):438-442. doi: 10.1002/ajmg.a.38562. Epub 2017 Dec 22.
Abdalla-Elsayed ME, Schatz P, Neuhaus C, Khan AO. Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy. Mol Vis. 2017 Nov 13;23:778-784. eCollection 2017.
Harris, L. G., E. Dudley, H. Rohde, L. Frommelt, N. Siemssen, T. S. Wilkinson, and D. Mack. 2017. Limitations in the use of PSMγ, agr, RNAIII, and biofilm formation as biomarkers to define invasive Staphylococcus epidermidis from chronic biomedical device-associated infections. Int J. Med. Microbiol. 307, 382-387.
Murray, S., B. Pascoe, G. Méric, L. Mageiros, K. Yahara, M.D. Hitchings, Y. Friedmann, T.S. Wilkinson, F.J. Gormley, D. Mack, J.E. Bray, S. Lamble, R. Bowden, K.A. Jolley, M. C. Maiden, S. Wendlandt, S. Schwarz, J. Corander, R.J. Fitzgerald, and S.K. Sheppard. Recombination-mediated host-adaptation by avian Staphylococcus aureus. Genome Biol Evol. 2017; 9, 830-842.
Gimpel C, Avni FE, Bergmann C, Cetiner M, Habbig S, Haffner D, König J, Konrad M, Liebau MC, Pape L, Rellensmann G, Titieni A, von Kaisenberg C, Weber S, Winyard PJD, Schaefer F. Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews. JAMA Pediatr. 2018 Jan 1;172(1):74-86. doi: 10.1001/jamapediatrics.2017.3938.
Méric G, Mageiros L, PensarJ, Laabei M, Yahara K, Pascoe B, Kittiwan N, Tadee T, Post V, Lamble S, Bowden R, Bray JE, Morgenstern M, Jolley KA, Maiden MCJ, Feil EJ, Didelot X, Miragaia M, de Lencastre H, Moriarty TF, Rohde H, Massey R, Mack D, CoranderJ and Sheppard SK. Disease-associated genotypes of the commensal skin bacterium Staphylococcus epidermidis. Nature Communications (2018) Volume 9, Article number: 5034
Arndt T, Buschmann HC, Schulz K, Stemmerich K. Lessons learned from a case of tert-butyl glucuronide excretion in urine – “New” Psychoactive Alcohols knocking on the back door? Forensic Sci Int 2017:281:9-12.
Beyreiß R, Schröfel S, Stemmerich K, Arndt T. Boric acid causing false-negative ethyl glucuronide immunoassay screenings is not detected by common sample checks – Indication for revised sample checking or enhanced visual control of urine voiding? Toxichem Krimtech 2017;84:158-161.
Galac, M. R., J. Stam, R. Maybank, M. Hinkle, D. Mack, H. Rohde, A. L. Roth, and P. D. Fey. Complete Genome Sequence of Staphylococcus epidermidis 1457. Genome Announc. 2017;5, pii: e00450-17.
Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Brüchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wühl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C and Bergmann C (2017) Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nature Genetics (2017) 49, 1025–1034, doi:10.1038/ng.3871
Gencay M, Hübner K, Gohl P, Seffner A,Weizenegg er M, Neofytos D, Batrla R, Woeste A, Kim HS, Westergaard G, Reinsch C, Brill E , Thu Thuy RT, Hoang BH, Sonderup M, Spearman CW, Pabinger S, Gautier J, Brancaccio G, Fasano M, Santantonio T, Gaeta GB, Nauck M, Kaminski WE (2017) Ultra- deep sequencing reveals high prevalenc and broad structural diversity of hepatitis B surface antigenmutatio ns in a global population. PLoS ONE 12(5): e0172101. https://doi.o rg/10.1371/ journal.pone .0172101
Arndt T, Beyreiß R, Hartmann W, Schröfel S, Stemmerich K. Excessive urinary excretion of isopropyl glucuronide after isopropanol abuse. Forensic Sci Int 2016;266:250-253.
Helander A, Wielders J, Anton R, Arndt T, Bianchi V, Deenmamode J, Jeppsson J-O, Whitfield J, Weykamp C, Schellenberg F. Standardization and use of the alcohol biomarker carbohydrate-deficient transferrin (CDT). Clinica Chimica Acta 2016;459:19-24.
Arndt T, Stemmerich K. Pseudonorephedrin (Cathin) – Ein Amphetamin-Metabolit? Toxichem Krimtech 2016;83:159-161.
Stepan H, Hund M, Gencay M, Denk B, Dinkel C, Kaminski WE, Wieloch P, Semus B, Meloth T, Dröge LA, Verlohren S.A comparison of the diagnostic utility of the sFlt-1/PlGF ratio versus PlGF alone for the detection of preeclampsia/HELLP syndrome. Hypertens Pregnancy. 2016 Aug;35(3):295-305. doi: 10.3109/10641955.2016.1141214. Epub 2016 Mar 30.
Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B (2016). Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. J Inherit Metab Dis 39(1): 115-124
Bultmann, C. A., J.-O. Steiß, C. Langner, B. Benkert, M. Havener, U. Küsters, S. G. Hühn-Lindenbein, and D. Mack. 2016. Complicated sea urchin-induced wound infection caused by Vibrio alginolyticus and Staphylococcus lugdunensis in a 14 year old boy. JMM Case Rep. 3 doi: 10.1099/jmmcr.0.005074.
Harris, L. G., S. Murray, B. Pascoe, G. Meric, L. Magerios, T. S. Wilkinson, H. Rohde, S. Schwarz, H. de Lancastre, M. Miragaia, J. Rolo, R. Bowden, K. A. Jolley, M. C. J. Maiden, D. Mack, and S. K. Sheppard. Biofilm morphotypes and population structure among Staphylococcus epidermidis from commensal and clinical samples. PLOS One 2016; 11, e0151240
Arndt T. Normalwerte und Referenzintervalle – zur Transversalbeurteilung in der Labordiagnostik. Toxichem Krimtech 2016;83:29-35
Schroeder C. Problematik, Klinik und Beispiele der Spurenelementvergiftung – Chrom. Toxichem Krimtech 2016;83:79-91.
Arndt T, Stemmerich K. Therapeutische und toxische Bereiche – Zur Transversalbeurteilung in der Labordiagnostik – Teil 2. Toxichem Krimtech 2016;83:115-120.
McLauchlan G, McLaughlin A, Sewell AC, Bell R. Methylmalonic Aciduria Secondary to Selective Cobalamin Malabsorption in a Yorkshire Terrier. J Am Anim Hosp Assoc 2015;51(4): 285-288
Sewell AC, Schroeder C. Diagnostik von Stoffwechselkrankheiten. Metabolitanalytik mit einem Twin Line GC-MS-System. GIT Labor-Fachzeitschrift 2015;59: 24-26
Fuchs T, Hahn M, Riabov V, Yin S, Kzhyshkowska J, Busch S, Püllmann K, Beham AW, Neumaier M, Kaminski WE. A combinatorial αβ T cell receptor expressed by macrophages in the tumor microenvironment. Immunobiology. 2017 Jan;222(1):39-44. doi: 10.1016/j.imbio.2015.09.022. Epub 2015 Oct 20.
Büttner H., D. Mack, and H. Rohde. Structural basis of Staphylococcus epidermidis biofilm formation: mechanisms and molecular interactions. Front. Cell. Infect. Microbiol. 2015; 5:14. doi: 10.3389/fcimb.2015.00014
Hooijberg EH, Furman E, Leidinger J, Brandstetter D, Hochleithner C, Sewell AC, Leidinger E, Giger U. Transient renal Fanconi syndrome in a Chihuahua exposed to Chinese chicken jerky treats. Tierarztl Prax Ausg K Kleintiere Heimtiere 2015;43(3): 188-192
Méric, G., M. Miragaia, M. de Been, K. Yahara, B. Pascoe, L. Mageiros, J. Mikhail, L. G. Harris, T. S. Wilkinson, J. Rolo, S. Lamble, J. E. Bray, K. A. Jolley, W. P. Hanage, R. Bowden, M. C. J. Maiden, D. Mack, H. de Lencastre, E. J. Feil, J. Corander, and S. K. Sheppard. Ecological overlap and horizontal gene transfer in Staphylococcus aureus and Staphylococcus epidermidis. Genome Biol. Evol. 2015; 7, 1313 -1328.
Herder V, Kummrow M, Leeb T, Sewell AC, Hansmann F, Lehmbecker A, Wohlsein P, Baumgärtner W. Polycystic kidneys and GM2 gangliosidosis-like disease in neonatal springboks (Antidorcas marsupialis). Vet Pathol 2015;52(3): 543-552
Al-Ishaq R, Armstrong J, Gregory M, O’Hara M, Phiri K, Harris LG, Rohde H, Siemssen N, Frommelt L, Mack D, and Wilkinson TS. Effects of polysaccharide intercellular adhesin (PIA) in an ex vivo model of whole blood killing and in prosthetic joint infection (PJI): A role for C5a. Int. J. Med. Microbiol. 2015; 305, 948-956.
Thoenes M, Zimmermann U, Ebermann I, Ptok M, Lewis MA, Thiele H, Morlot S, Hess MM, Gal A, Eisenberger T, Bergmann C, Nürnberg G, Nürnberg P, Steel KP, Knipper M, Bolz HJ. OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Thoenes et al. Orphanet Journal of Rare Diseases (2015) 10:15
Arndt T, Nöbauer S, Schröfel S, Stemmerich K. Falsch-positive EtG-Screenings durch Inhalation von iso-Propanol-Dämpfen in der Lebensmittelindustrie. Toxichem Krimtech 2015;82:25-26.
Bobrov, A. G., V. Vadivaloo, B. J. Koestler, A. K. Hinz, D. Mack, C. M. Waters, and R. D. Perry. The Yersinia pestis HmsCDE regulatory system is essential for blockage of the oriental rat flea (Xenopsylla cheopis), a classic plague vector. Environ. Microbiol. 2015; 17, 947-959.
Schroeder C, Arndt T. Problematik, Klinik und Beispiele der Spurenelementvergiftung – Arsen. Toxichem Krimtech 2015;82:327-339.
Eisenberger T, Decker C, Hiersche M, Hamann RC, Decker E, Neuber S, Frank V, Bolz HJ, Fehrenbach H, Pape L, Toenshoff B, Mache C, Latta K, Bergmann C. An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease. PLoS One. 2015 Feb 3;10(2):e0116680
Buxmann H, Eggermann T, Lorenz D, Sewell AC, Böhles H, Schlößer RL, Merz E. Cystinuria in a girl presenting with a hyperechogenic colon detected by prenatal ultrasonography and a new SLC3A1 gene mutation (p.Phe278Ser). Ultraschall Med 2014;35(5): 473-474
Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller, J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke, AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ. Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum. Mutat. 2014 Oct; 35(10):1153-62.
Arndt T, Schröfel S, Guessregen B, Stemmerich K. Inhalation but not transdermal resorption of hand sanitizer ethanol causes positive ethyl glucuronide findings in urine. Forensic Sci Int 2014;237:126-130.
Arndt T, Beyreiß R, Schröfel S, Stemmerich K. Cross-reaction of propyl and butyl alcohol glucuronides with an ethyl glucuronide enzyme immunoassay. Forensic Sci Int 2014;241:84-86.
Giebelmann R, Logemann E, Arndt T. Kulturgeschichtliches zur Pflanzenordnung der Lilienartigen (Liliales). Toxichem Krimtech 2014;81:5-13.
Stemmerich K, Schroefel S, Arndt T. Zur Unterscheidung von (il)legalen Methylmethcathinon-Isomeren mittels LC-MS/MS. Toxichem Krimtech 2014;81:136-139.
Pascoe, B., L. Dams, T. S. Wilkinson, L. G. Harris, O. Bodger, D. Mack, and A. P. Davies. Dormant cells of Staphylococcus aureus are resuscitated by spent culture supernatant. PLOS One 2014; 9, e85998.
Khan AO, Bergmann C, Eisenberger T, Bolz HJ. A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. Br J Ophthalmol. 2014 Oct 23. pii: bjophthalmol-2014-305836.
Fehrenbach H, Decker C, Eisenberger T, Frank V, Hampel T, Walden U, Amann K, Krüger-Stollfuß I, Bolz HJ, Häffner K, Pohl M, Bergmann C. Mutations in WDR19encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies. Pediatr Nephrol. 2014 Aug;29(8):1451-6.
Huppke P, Wegener E, Böhrer-Rabel H, Bolz HJ, Zoll B, Gärtner J, Bergmann C. Tectonic gene mutations in patients with Joubert syndrome. Eur J Hum Genet 2014 Aug 13. doi: 10.1038/ejhg.2014.160.
Eisenberger T, Di Donato N, Baig SM, Neuhaus C, Beyer A, Decker E, Mürbe D, Decker C, Bergmann C, Bolz HJ. Targeted and genomewide NGS data disqualify mutations in MYO1A, the “DFNA48 gene”, as a cause of deafness. Hum. Mutat. 2014 May; 35(5):565-70.
Arndt T, Güssregen B, Schröfel S, Stemmerich K. Ethanolische Handdesinfektion – Fallstrick der Abstinenzkontrolle. Toxichem Krimtech 2013;80:178-182.
Arndt T, Schröfel S, Stemmerich K. Ethyl glucuronide identified in commercial hair tonics. Forensic Sci Int 2013;231:195-198
Gressner A, Arndt T (Hrsg.). Lexikon der Medizinischen Laboratoriumsdiagnostik. 2. Aufl., Springer, Heidelberg, 2013.
Nenoff P, Arndt T, Gräser Y, Herrmann J, Krüger C. Hyalohyphomycosis due to Acremonium strictum in a Red-eared Slider semi-aquatic turtle – Implications for the diagnostics and treatment of emerging opportunistic fungal pathogens in reptiles. Mikologia Lekarska 2013;20:73-76.
Harris, L. G., Y. Nigam, J. Sawyer, D. Mack, and D. I. Pritchard. Lucilia sericata chymotrypsin disrupts protein adhesion-mediated staphylococcal biofilm formation. Appl. Env. Microbiol. 2013; 79, 1393-1395.
Arndt T, Schröfel S, Stemmerich K. Nachweis von Ethylglucuronid (EtG) in einem Haarwasser. Toxichem Krimtech 2013;80(2):157-159.
Bergmann C. Autosomal-recessive polycystic kidney disease gets more complex. Gastroenterology. 2013 May;144(5):1155-6.
Allen, S. J., K. Wareham, D. Wang, C. Bradley, H. Hutchings, W. Harris, A. Dhar, H. Brown, A. Foden, M. B. Gravenor, and D. Mack. Lactobacilli and bifidobacteria in the prevention of antibiotic-associated and Clostridium difficile diarrhoea in older in-patients (PLACIDE): a randomised, double-blind, placebo-controlled, multicentre trial. Lancet 2013; 382, 1249-1257.
Allen, S. J., K. Wareham, D. Wang, C. Bradley, B. Sewell, H. Hutchings, W. Harris, A. Dhar, H. Brown, A. Foden, M. B. Gravenor, D. Mack, C. J. Phillips. A high dose preparation of lactobacilli and bifidobacteria in the prevention of antibiotic-associated and Clostridium difficile diarrhoea in older people admitted to hospital: a multicenter, randomized, double-blind, placebo-controlled, parallel arm trial (PLACIDE). Health Technol. Assess. 2013; 17, 1-140.
Brinkert F, Lehnhardt A, Montoya C, Helmke K, Schaefer H, Fischer L, Nashan B, Bergmann C, Ganschow R, Kemper MJ. Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome. Transpl Int. 2013 Jun;26(6):640-50
Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet. 2013 Jun 23. (in press)
Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Göbel H, Nürnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Völker LA, Dötsch J, Nürnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. Hum Mol Genet. 2013 Jun 1;22(11):2177-85.
Khan AO, Abu-Safieh L, Eisenberger T, Bolz HJ, Alkuraya FS. The RPGRIP1-related retinal phenotype in children. Br J Ophthalmol. 2013 Jun;97(6):760-4.
Modde F, Agustian PA, Wittig J, Dämmrich ME, Forstmeier V, Vester U, Ahlenstiel T, Froede K, Budde U, Wingen AM, Schwarz A, Lovric S, Kielstein JT, Bergmann C, Bachmann N, Nagel M, Kreipe HH, Bröcker V, Bockmeyer CL, Becker JU. Comprehensive analysis of glomerular mRNA expression of pro- and antithrombotic genes in atypical haemolytic-uremic syndrome (aHUS). Virchows Arch. 2013 Apr;462(4):455-64.
Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C. Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Hum Mutat. 2013 May;34(5):714-24.
Arndt T, Grüner J, Schröfel S, Stemmerich K. False-positive ethyl glucuronide immunoassay screening caused by a propyl alcohol-based hand sanitizer. Forensic Sci Internat 2012;223:359-363.
El-Bouri, K., S. Johnston, E. Rees, I. Thomas, N. Bome-Mannathoko, C. Jones, M. Reid, B. Ben-Ismaeil, A. P. Davies, L. G. Harris, and D. Mack. Comparison of bacterial identification by MALDI-TOF mass spectrometry and conventional microbiology methods: agreement, speed and cost implications. Br. J. Biomed. Sci. 2012; 69, 47-55.
Arndt T. Problematik, Klinik und Beispiele der Spurenelementvergiftung – Cadmium. Toxichem Krimtech 2012;79:127-136.
Davies, A. P., M. Reid, S. J. Hadfield, S. Johnston, J. Mikhail, L. G. Harris, H. F. Jenkinson, N. Berry, A. M. Lewis, K. El-Bouri, and D. Mack. Identification of clinical isolates of α-haemolytic streptococci by 16S rRNA gene sequencing, MALDI Biotyper mass spectrometry and conventional phenotypic methods – a comparison. J. Clin. Microbiol. 2012; 50, 4087-4090.
Arndt T. Problematik, Klinik und Beispiele der Spurenelementvergiftung – Quecksilber. Toxichem Krimtech 2012;79:51-60.
Spiliopoulou, A. I., M. I . Krevveta, F. Kolonitsiou, L. G. Harris, T. S. Wilkinson, A. P. Davies, G. O. Dimitracopoulos, F. N. Lamari, M. K. Karamanos, D. Mack, and E. D. Anastassiou. An extracellular Staphylococcus epidermidis polysaccharide: relation to Polysaccharide Intercellular Adhesin and its implication in phagocytosis. BMC Microbiology 2012; 12, 76.
Bergmann C. Ciliopathies. Eur J Pediatr 171(9):1285-300, 2012.
Busch J, Frank V, Bachmann N, Otsuka A, Oji V, Metze D, Shah K, Danda S, Watzer B, Traupe H, Bolz HJ, Kabashima K, Bergmann C. Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. J Invest Dermatol Jun 14, 2012.
Allen, S. J., K. Wareham, D. Bradley, W. Harris, A. Dhar, H. Brown, A. Foden, W. Y. Cheung, M. B. Gravenor, S. Plummer, C. J. Phillips, and D. Mack. A multicentre randomised controlled trial evaluating lactobacilli and bifidobacteria in the prevention of antibiotic-associated diarrhoea in older people admitted to hospital: the PLACIDE study protocol. BMC Infect. Dis. 2012; 12, 108.
Bergmann C & Weiskirchen R. It’s not all in the cilium, but on the road to it: Genetic interaction network in polycystic kidney and liver diseases and how trafficking and quality control matter. J Hepatol 56(5):1201-3, 2012.
Kleffmann J, Frank V, Ferbert A, Bergmann C. Dosage-sensitive network in polycystic kidney and liver disease: Multiple mutations cause severe hepatic and neurological complications. J Hepatol 57(2):476-7, 2012.
Spiliopoulou, A. I., F. Kolonitsiou, M. I. Krevvata, M. Leontsinidis, T.S. Wilkinson, D. Mack, and E. D. Anastassiou. . Bacterial adhesion, intracellular survival and cytokine induction upon stimulation of mononuclear cells with planktonic or biofilm phase Staphylococcus epidermidis. FEMS Microbiol Lett. 2012; 330, 56-65.
2011
Arndt T. (Hrsg.) Proceedings of the XVII. GTFCh-Symposium. New Drugs of Abuse – From Structural Characterization to Toxicology. Verlag Gesellschaft für Toxikologische und Foren-sische Chemie, Jena, 2011.
Arndt T. Kratom. MTA Dialog 2011;12:119.
Arndt T. Neutrophilen-Gelatinase-assoziiertes Lipocalin (NGAL). Kenngröße der akuten Nierenschädigung? MTA Dialog 2011;12:511.
Arndt T. Biomarker des Alkoholkonsums – Eine Übersicht. Toxichem Krimtech 2011;78:419-430.
Arndt T. Fettsäureethylester (FAEE) – Biomarker des Alkoholkonsums. MTA Dialog 2011;12:1105.
Arndt T, Claussen U, Güssregen B, Schröfel S, Stürzer B, Werle A, Wolf G. Kratom alkaloids and O-desmethyltramadol in urine of a „Krypton“ herbal mixture consumer. Forensic Sci Int 2011;208:47-52.
Arndt T, Claussen U, Güssregen B, Schröfel S, Stürzer B, Werle A, Wolf G.Phosphatidylethanol. Marker für chronischen Alkoholmissbrauch? MTA Dialog 2010;11:44.
Baig SM, Koschak A, Lieb A, Gebhart M, Dafinger C, Nürnberg G, Ali A, Ahmad I, Sinnegger-Brauns MJ, Brandt N, Engel J, Mangoni ME, Farooq M, Khan HU, Nürnberg P, Striessnig J, Bolz HJ. Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci 2011; 14(1):77-84.
Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2011; 88(3):362-71.
Bergmann C, von Bothmer J, Ortiz Brüchle N, Venghaus A, Frank V, Fehrenbach H, Hampel T, Pape L, Buske A, Jonsson J, Sarioglu N, Santos A, Ferreira JC, Becker JU, Cremer R, Hoefele J, Benz MR, Weber LT, Buettner R, Zerres K. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol 22(11):2047-56, 2011.
Best M, Güssregen B, Arndt T. Nicotin und Cotinin – Anagrammatische Rauchzeichen. MTA Dialog 2011;10:901.
Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ. Mutations in the KIF7 gene link Joubert syndrome with Sonic Hedgehog signalling and microtubule dynamics. J Clin Invest 2011; 121(7):2662-7.
Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attié-Bitach T, Johnson CA, García-Verdugo JM, Katsanis N, Bergmann C, Reiter JF. Disruption of a ciliary B9 protein complex causes Meckel Syndrome. Am J Hum Genet 15;89(1):94-110, 2011.
Linder B, Dill H, Hirmer A, Brocher J, Lee GP, Mathavan S, Bolz HJ, Winkler C, Laggerbauer B, Fischer U. Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa. Hum Mol Genet 2011; 20(2):368-77.
Schröfel S, Hupp A, Auwärter V, Arndt T. Zur Verbreitung von Kratom (Mitragyna speciosa) in (il)legalen Kräutermischungen. Toxichem Krimtech 2011;78:45-51.
Vermehren J, Colucci G, Gohl P, Hamdi N, Abdelaziz AI, Karey U, Thamke D, Zitzer H, Zeuzem S, Sarrazin C.
Development of a second version of the Cobas AmpliPrep/Cobas TaqMan hepatitis C virus quantitative test with improved genotype inclusivity.
J Clin Microbiol. 2011 Sep;49(9):3309-15. Epub 2011 Jul 13.
2010
Alberer M, Hoefele J, Bergmann C , Hartrampf S, Hilberath J, Pawlita I, Albert MH, Benz MR, Weber LT, Schmid I. Reduced Methotrexate Clearance and Renal Impairment in a Boy With Osteosarcoma and Earlier Undetected Autosomal Dominant Polycystic Kidney Disease (ADPKD).J Pediatr Hematol Oncol 2010.
Aller E, Jaijo T, van Wijk E, Ebermann I, Kersten F, García-García G, Voesenek K, Aparisi MJ, Hoefsloot L, Cremers C, Díaz-Llopis M, Pennings R, Bolz HJ, Kremer H, Millán JM. Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. Mol Vis. 2010 Mar 23;16:495-500.
Arndt T, Claussen U, Güssregen B, Schröfel S, Stürzer B, Werle A, Wolf G. „Krypton“-Konsum als Ursache eines positiven O-Desmethyltramadol-Nachweises im Urin einer Opiatabhängigen in der Entwöhnungstherapie. Toxichem Krimtech 2010;77(1):23-28.
Becker JU, Saez AO, Zerres K, Witzke O, Hoyer PF, Schmid KW, Kribben A, Bergmann C , Nürnberger J. The mTOR pathway is activated in human autosomal-recessive polycystic kidney disease.Kidney Blood Press Res 33(2):129-38, 2010
Berger A, Gohl P, Stürmer M, Rabenau HF, Nauck M, Doerr HW. Detection and quantitation of HBV DNA in miniaturized samples: multi centre study to evaluate the performance of the COBAS ® AmpliPrep/COBAS ® TaqMan ® hepatitis B virus (HBV) test v2.0 by the use of plasma or serum specimens.J Virol Methods. 2010 Nov;169(2):404-8. Epub 2010 Aug 20.
Drenth JPH, Chrispijn M & Bergmann C . Congenital fibrocystic liver diseases. Best Pract Res Clin Gastroenterol 24: 573–584, 2010.
Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schäfer E, Roux AF, Dafinger C, Bernd A, Zrenenr E, Claustres M, Blanco B, Nürnberg G, Nürnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest. 2010 Jun 1;120(6):1812-1823
Liu M, Shi S, Senthilnathan S, Yu J, Wu E, Bergmann C , Zerres K, Bogdanova N, Coto E, Deltas C, Pierides A, Demetriou K, Devuyst O, Gitomer B, Laakso M, Lumiaho A, Lamnissou K, Magistroni R, Parfrey P, Breuning M, Peters DJ, Torra R, Winearls CG, Genetic variation of DKK3 may modify renal disease severity in ADPKD. J Am Soc Nephrol 21(9):1510-20, 2010.
Ortiz Brüchle N, Venghaus A, von Bothmer J, Rudnik-Schöneborn S, Eggermann T, Bergmann C , Zerres K. Zystennieren – Eine Übersicht. Med Genet 2010
Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM,..Bergmann C . Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet 42(10):840-50, 2010.
Schild AM, Fricke J, Herkenrath P, Bolz H, Neugebauer A. Neuro-ophthalmological and ophthalmological findings in Joubert syndrome.Klin Monbl Augenheilkd 227: 786-791, 2010
Schröfel S, Arndt T. Krypton – Nicht nur ein Edelgas. MTA Dialog 2010;11:978.
Schröfel S, Güssregen B, Werle A, Nauck M, Arndt T. Selective Reaction Monitoring (SRM) Daten von Xenobiotika für Aufbau und Validierung von LC-MS/MS Analysen – Teil 2. Toxichem Krimtech 2010;77:117-137.
Simon T, Feldkotter M, Buiting K, Ortmann M, Bolz H, Korber F. Slow progression of a small Wilms‘ tumor. Klin Padiatr 222: 190-191, 2010
Striessnig J, Bolz HJ, Koschak A. Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels. Pflugers Arch. 2010 Jul;460(2):361-74
Vester U, Kranz B & Bergmann C. Von Nierenzysten und Zystennieren. Päd Hautnah 2: 92-98, 2010.
Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhager R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH. A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. Clin Genet 78: 267-274, 2010
2009
Arndt T. Urine-creatinine concentration as a marker of urine dilution. Reflections using a cohort of 45000 samples.Forensic Sci Int 2009;186:48-51.
Arndt T, Gierten B, Güssregen B B, Werle A, Grüner J. False-positive ethyl glucuronid screening associated with chloral hydrate medication as confirmed by LC-MS/MS and self-medication.Forensic Sci Int 2009;184:e27-29.
Bolz HJ. Genetik des Usher-SyndromsOphthalmologe 2009;106:496-504
Charbel Issa P, Bolz HJ, Ebermann I, Domeier E, Holz FG, Scholl HP. Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene. Br J Ophthalmol. 2009 Jul;93(7):920-5
Ebermann I, Koenekoop RK, Lopez I, Bou-Khzam L, Pigeon R, Bolz HJ. An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. Eur J Hum Genet. 2009 Jan;17(1):80-4
Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ. GPR98 mutations cause Usher syndrome type 2 in males.J Med Genet. 2009 Apr;46(4):277-80.
Fischer DC, Jacoby U, Pape L, Ward CJ, Kuwertz-Bröcking E, Renken C, Nizze H, Querfeld U, Rudolph B, Müller-Wiefel DE, Bergmann C , Haffner D. Activation of the AKT/mTOR-pathway in autosomal recessive polycystic kidney disease (ARPKD).Nephrol Dial Transplant 24(6):1819-27, 2009.
Khanna H, Davis EE, Murga-Zamalloa CA, Estrada A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, …Bergmann C ,… A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 41(6):739-45, 2009.
Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ. A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.Eur J Hum Genet. 2009 Aug;17(8):1076-9
Senderek J, Garvey SM, Krieger M, Guergueltcheva V, Urtizberea A, Roos A, Elbracht M, Stendel C, Tournev I, Mihailova V, Feit H, Tramonte J, Hedera P, Crooks K, Bergmann C , Rudnik-Schöneborn S, Zerres K, Lochmüller H, Seboun E, Weis J, Beckmann JS. Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix ProteinMatrin 3. Am J Hum Genet 84(4):511-8, 2009.
2008
Arndt T, Guessregen B, Hallermann D, Nauck M, Terjung D, Weckesser H. Forensic analysis of carbohydrate-deficient transferrin by HPLC – statistics and extreme CDT values.Forens Sci Int 2008;175:27-30.
Arndt T, van der Meijden BB, Wielders JPM. Atypical serum transferrin isoform distribution in liver cirrhosis studied by HPLC, capillary electrophoresis and transferrin genotyping. Clin Chim Acta 2008;394:42-46.
Dittmar M, Knuth M, Beineke M, Epe B. Role of Oxidative DNA Damage and Antioxidative Enzymatic Defence Systems in Human AgingThe Open Anthropology Journal, 2008, 1, 38-45
Güssregen B B, Schröfel S, Nauck M, Arndt T. Selective Reaction Monitoring (SRM) Daten von mehr als 900 Xenobiotika für Aufbau uns Validierung von LC-MS/MS Analysen.Toxichem + Krimtech 2008;75:149-174.
Jeppsson J-O, Arndt T, Schellenberg F, Wielders JPM, Anton RF, Whitfield JB, Helander A – International Federation of Clinical Chemistry and Laboratory Medicine Working Group on Standardization of Carbohydrate-deficient Transferrin (IFCC-WG-CDT). Standardization of CDT: Reply to the Letter by Tagliaro and Bortolotti in Clin Chem Lab Med 2008;46:727-728.
Zirn B, Steinberger D, Troidl C, Brockmann K von der Hagen M, Feiner C, Henke L, Müller U. Frequency of GCH1 deletions in Dopa-responsive dystonia.J Neurol Neurosurg Psychiatry 2008;79:183-186.
2007
Arndt T. Urin-Kreatininkonzentration: Kenngröße zur Prüfung auf Probenverwertbarkeit? Kritische Überlegungen aus ca. 25000 Urin-Kreatininbestimmungen in einem klinisch-chemischen Labor.Toxichem + Krimtech 2007;74:94-99.
Arndt T. Urin-Kreatininkonzentration: Kenngröße zur Prüfung auf Probenverwertbarkeit? Teil 2. Auswertung von ca. 20.000 Kreatinin-Analysen im Rahmen des Drogenscreenings.Toxichem + Krimtech 2007;74:155-158.
Arndt T, Erkens M, Holtkamp K, Keller T, Gressner AM. High prevalence of increased trisialotransferrin concentrations in patients with anorexia nervosa: implications for determination of carbohydrate-deficient transferrin. Clin Chim Acta 2007;379:150-153.
Arndt T, Stanzel S, Sewell AC. Paediatric age-dependent serum transferrin isoform distribution studied by HPLC. Clin Lab 2007;53:575-582.
Decker J, Wildhardt G, Steinberger D. Molekulare Diagnostik beim von Hippel-Lindau-Syndrom.Hämato-Onkologische Nachrichten 2007:09-10:5.
Decker J. Hereditäre Nierentumoren – aktuelle Aspekte zur genetischen Beratung – medgen 2007;19:239-244.
Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and „patchy“ expression in the mosaic father.Am J Med Genet A. 2007;1431A(23):2815-2820.
Gressner AM, Arndt T (Hrsg.). Lexikon der Medizinischen Laboratoriumsdiagnostik. Band 1 Klinische Chemie. 1411 Seiten, 745 Abb., 500 Tab., incl. CD-ROM, Springer, Heidelberg, 2007.
Gressner AM, Arndt T (Hrsg) (2007) Hagers Enzyklopädie der Arzneistoffe und Drogen, Bd 17: Allgemeines. In: Blaschek W et al. (Hrsg) Hagers Enzyklopädie der Arzneistoffe und Dro-gen, 6. Aufl. Wissenschaftliche Verlagsgesellschaft, Stuttgart.
Jeppsson J-O, Arndt T, Schellenberg F, Wielders JPM, Anton RF, Whitfield JB, Helander A – International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Working Group on Standardization of Carbohydrate-deficient Transferrin. Toward standardization of carbohydrate-deficient transferrin (CDT) measurements: I. AnalytClin Chem Lab Med 2007;45:558-562.
Müller U, Zirn B, Steinberger D. Dopa-responsive dystonia (DRD). Encyclopedia of Molecular Mechanisms of Diseases, in press, edited by Florian Lang 2007, SPRINGER, Berlin ISBN: 3540334459
Pragst F, Arndt T (Hrsg.) XVI. GTFCh-Symposium Toxikologie psychisch aktiver Substan-zen. Beiträge zum XVI. Symposium der Gesellschaft für Toxikologische und Forensische Chemie. Verlag Gesellschaft für Toxikologische und Forensische Chemie, Jena 2009.
Sancken U, Kitschmann-Prawitt M, Steinberger D. Integriertes und sequenzielles Screening: Neue Methoden der Risikoabschätzung fetaler Chromosomenanomalien. Frauenarzt 2007;48:38-43.
Sancken U. Nicht invasive Pränataldiagnostik. Deutsche Hebammen Zeitschrift 2007;4:19-22.
Steinberger D, Trübenbach J, Zirn B, Leube B, Wildhardt G, Müller U. Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia. Neurogenetics 2007 Jan;8(1):51-55. Epub 2006 Nov 17
Tzschach A, Ramel C, Kron A, Seipel B, Wüster C, Cordes U, Liehr T, Hoeltzenbein M, Menzel C, Ropers HH, Ullmann R, Kalscheuer V, Decker J, Steinberger D. Hypergonadotropic hypogonadism in a patient with inv ins(2;4).International Journal of Andrology 2007;30:1–5.
Zirn B, Steinberger D, Müller U. Dopa-responsive Dystonie: L-Dopa kompensiert erblichen BH4-Mangel. Der Neurologe und Psychiater 2007;4:54-56.
2006
Arndt T, Gressner A, Herwig J, Meier U, Sewell AC. Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferrin (CDT): Experience with four independent CDT analysis methods – misleading results given by the %CDT TIA assay. Clin Chim Acta 2006;373:117-120.
Arndt T, Keller T. Anorexia nervosa and carbohydrate-deficient transferrin. Psych Res 2006;144:245-246[Letter].
Arndt T, Meier U, Nauck M, Gressner A. Primary biliary cirrhosis is not a clinical condition for increased carbohydrate-deficient transferrin: Experience with four independent CDT analysis methods. Clin Chim Acta 2006;372:184-187.
Arndt T. Valid carbohydrate-deficient transferring testing (Letter to editor).Clinica Chimica Acta 2006;364:367-368.
Decker J. Von Hippel-Lindau-Syndrom.medgen 2006;18:355-361.
Frising M, Wildhardt G, Frisch L, Pitz S. Recurrent granular dystrophy of the cornea: an unusual case.Cornea 2006 Jun;25(5):614-7.
Hering A, Guratowska M, Bucsky P, Claussen U, Decker J, Ernst G, Hoeppner W, Michel S, Neumann H, Parlowsky T, Loncarevic I. Characteristic genomic imbalances in pediatric Pheochromocytoma.Genes, Chromosomes & Cancer 2006;45:602-607.
Reis J, John D, Heimeroth A, Mueller HH, Oertel WH, Arndt T, Rosenow F. Modulation of human motor cortex excitability by single doses of amantadine. Neuropsychopharmacology 2006;31:2758-66.
Rett M, Held I, Peters U, Steinberger D, von der Wense A. Pränatale Diagnostik bei Apert-Syndrom. Monatszeitschrift Kinderheilkunde. Monatsschr Kinderheilkd 2006;154:903–906.
2005
Arndt T, Guessregen B, Hohl A, Reis J.
Determination of serum amantadine by liquid chromatography-tandem mass spectrometry.Clin Chim Acta 2005;359:125-131.
Arndt T. Kohlenhydrat-defizientes Transferrin.In: Thomas L (Hrsg.) Labor und Diagnose. TH-Books Verlagsgesellschaft mbH, Frankfurt, 6. Auflage, 2005:945-953.
Kaindl AM, Steinberger D, Heubner G, Mueller U, Blau N, Neubert K, Kunath B, von der Hagen M. Phenotype of five patients with Dopa-responsive Dystonia and mutations in GCH1. J Ped Neurol 2005;3:83-87.
Scheidhauer R, Guessregen B, Hohl A, Arndt T. Effects of prolonged ambient storage of sodium fluoride/heparin specimens on plasma homocysteine. Clin Chem. 2005;51:1564-1565.
Wylenzek C, Trübenbach J, Gohl P, Wildhardt G, Alkins S, Fausett MB, Decker J, Steinberger D. Mutation screening for the prothrombin variant G20210A by melting point analysis with the Light Cyclersystem: atypical results, detection of the variant C20209T and possible clinical implications. Clin Lab Haematol 2005;27(5):343-346.
2004
Arndt T, Guessregen B, Hohl A, Heicke B. Total plasma homocysteine measured by liquid chromatography-tandem mass spectrometry with use of 96-well plates. Clin Chem 2004;50:755-757.
Arndt T, Keller T. Forensic analysis of carbohydrate-deficient transferrin (CDT): Implementation of a screening and confirmatory analysis concept is hampered by the lack of CDT isoform standards. Forens Sci Int 2004;146:9-16.
Borck G, Topaloglu AK, Korsch E, Martine U, Wildhardt G, Onenli-Mungan N, Yuksel B, Aumann U, Koch G, Ozer G, Pfaffle R, Scherberg NH, Refetoff S, Pohlenz J. Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.J Clin Endocrinol Metab 2004 Aug;89(8):4136-41.
Mulliken JB, Gripp KW, Stolle CA, Steinberger D, Müller U. Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).Plast Reconstr Surg. 2004 Jun;113(7):1899-909.
Nenoff P, Donaubauer K, Arndt T, Haustein U-F. Der Einfluss von Argininhydrochlorid auf den Harnstoffgehalt des Stratum corneum sowie die Hautfeuchtigkeit beim atopischen Ekzem und Altershaut.Hautarzt 2004;55:58-64 eingereicht.
Steinberger D, Blau N, Goriuonov D, Bitsch J, Zuker M, Hummel S, Müller U. Heterozygous mutation in 5`-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. Neurogenetics. 2004 Sep;5(3):187-90. Epub 2004 Jul 6.
Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafe L, Spranger J, Superti-Furga A. Sponyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. Am J Med Genet A 2004;129(2):144-148.
2003
Arndt T. Asialotransferrin – An alternative to carbohydrate-deficient transferrin? Clin Chem 2003;49:1022-1023[Letter].
Borck G, Roth C, Martine U, Wildhardt G, Pohlenz J. Mutations in the PDS gene in German families with Pendred´s syndrome: V138F is a founder mutation.J Clin Endocrinol Metab 2003 Jun;88(6):2916-21.
Branson R, Potoczna N, Kral JG, Lentes KU, Hoehe MR, Horber FF. Binge eating as a major Phenotype of melanocortin 4 Receptor Gene Mutations.NEJM 2003;348(12):1096-1103.
de Bruijn H, Korzec A, Arndt T, van den Brink W. The discriminant validity of alcohol use disorder in well-functioning men with hazardous alcohol use.Eur Addict Res 2003;9:182-187.
Galban S, Fan J, Martindale JL, Cheadle C, Hoffman B, Woods MP, Temels G, Brieger J, Decker J, Gorospe M. von Hippel-Lindau protein-mediated repression of tumor factor alpha translation revealed through use of cDNA arrays. Molecular and Cellular Biology 2003;23(7):2316-2328.
Galban S, Martindale JL, Mazan-Mamczarz K, Lopez de Silanes I, Fan J, Wang W, Decker J, Gorospe M. Influence of the RNA-binding Protein HuR in pVHL-regulated p53 expression in renal carcinoma cells. Molecular and Cellular Biology 2003;23(20):7083-7090.
Naumann S, Decker J. Genesis of variant Philadelphia chromosome translocations in chronic myelocytic leukemia. Cancer Genetics and Cytogenetics 2003;147:18-22.
Steinberger D, Reynolds DS, Ferris P, Lincoln R, Datta S, Stanley J, Paterson A, Dawson GR, Flint J. Genetic mapping of variation in spatial learning in the mouse.J Neurosci. 2003 Mar 15;23(6):2426-33
2002
Arndt T, Kropf J. Alcohol abuse and carbohydrate-deficient transferrin analysis: Are screening and confirmatory analysis required? Clin Chem 2002;48:2072-2074[Letter].
Arndt T, Korzec A, Bär M, Kropf J. Further arguments against including trisialo-Fe2-transferrin in carbohydrate-deficient transferrin (CDT): a study on male alcoholics and hazardous drinkers. Med Sci Monit 2002;8:CR411-CR418.
Arndt T, Kropf J. A prolonged time interval between blood sample collection and centrifugation causes an increase in serum carbohydrate-deficient transferrin. Med Sci Monit 2002;8:BR61-BR64.
Decker J, Brauch H. Nierenzellkarzinome.In: Nicht-hereditäre Tumorerkrankungen, Ganten D, Ruckpaul K (Eds.); Springer Verlag Berlin Heidelberg 2002;257-289
Müller U, Steinberger D, Topka H. Mutations of GCH1 in Dopa-responsive dystonia. J Neural Transm 2002 Mar;109(3):321-8
Préhu C, Behnken LJ, Neuman R, Riou J, Kister J, Kiger L, Promé D, Arndt T, Semmelroggen B, Schmidt M, Galactéros F, Wajcman H. A new unstable Hb variant with low oxygen affinity: Hb Ilmenau [ß41(C7)Phe®Cys]. Hemoglobin 2002;26:169-174.
Siegsmund M, Brinkmann U, Schäffeler E, Weireich G, Schwab M, Eichelbaum M, Fritz P, Burk O, Decker J, Alken P, Rothenpieler U, Kerb R, Hoffmeyer S, Brauch H. Association of the P-Glycoprotein Transporter MDR1 polymorphism with the suspectibility to renal epithelial tumors.J Am Soc Nephrol 2002; 13:1847-1854.
2001
Arndt T. Carbohydrate-deficient transferrin as a marker of chronic alcohol abuse: a critical review of preanalysis, analysis, and interpretation. Clin Chem 2001;47:13-27[Review].
Assmann B, Hackler R, Peters V, Schaefer JR, Arndt T, Mayatepek E, Jaeken J, Hoffmann GF. A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations.Neuropediatrics 2001;32:313-318.
Cichutek A, Brückmann T, Seipel B, Hauser H, Schlaubitz S, Prawitt D, Hankeln T, Schmidt ER, Winterpacht A, Zabel B. Comparative architectural aspects of syntenic regions on human chromosome 11p15.3 and mouse chromosome 7 (including genes WEE1 and LMO1). Cytogenet Cell Genet 2001;93:277-283.
Groß U, Sassa S, Arndt T, Doss MO. Survival of two patients with severe d-aminolaevulinic acid dehydratase deficiency porphyria. J Inher Metab Dis 2001;24:60-64.
Naumann S, Reutzel D, Speicher M, Decker J. Complete karyotype charakterization of the K562 cell line by combined application of G-banding, multiplex-fluorescence in situ hybridization, fluorescence in situ hybridization, and comparative genomic hybridization. Leukemia Research 2001;25:313-322.
Nickelsen T, Creatsas G, Rechberger T, Depypere H, Erenus M, Quail D, Arndt T, Bonnar J. Differential effects of raloxifene and continuous combined hormone replacement therapy on biochemical markers of cardiovascular risk: results from the Euralox 1 study. Climacteric 2001;4:320-331.
Niketeghad F, Decker J, Caselmann WH, Lund P, Geissler F, Dienes HP, Schirmacher P. Frequent genomic imbalances suggest commonly altered tumour genes in human hepatocarcinogenesis.British Journal of Cancer 2001;85(5):697-704.
Reutzel D, Mende M, Naumann S, Störkel S, Brenner W, Zabel B, Decker J. Genomic imbalances in 61 renal cancers from the proximal tubulus detected by comparative genomic hybridization.Cytogenet Cell Genet 2001;93:221-227.
2000
Adryan B, Decker J, Papas TS, Hsu T. Tracheal development and the von Hippel-Lindau tumor suppressor homolog in Drosophila. Oncogene 2000;19:2803-2811.
Arndt T, Pelzer M, Nenoff P, Pelzer S, Lindeke A, Steinmetz A, Haustein U-F. Lipoprotein- und Apolipoprotein-Elektrophorese bei X-chromosomal rezessiver Ichthyose. Hautarzt 2000;51:490-495.
Brauch H, Weirich G, Brieger J, Glavac D, Rödl H, Eichinger M, Feurer M, Weidt E, Puranakanitstha C, Neuhaus C, Pomer S, Brenner W, Schirmacher P, Störkel S, Rotter M, Masera A, Gugeler N, Decker J. VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation.Cancer Research 2000;60(4):1942-1948.
Brieger J, Weidt E, Decker J.
Fast, non-toxic, and inexpensive n-butanol preparation of recombinant plasmids.Genetics and Molecular Biology 2000;23(2):299-300.
Decker J, Schuler M. Internistische Onkologie: Grundlagen der internistischen Onkologie.Die Innere Medizin (hrsg. W. Gerog, Chr. Huber, Th. Meinertz, H. Zeidler) 10. Auflage Schattauer Verlag, S. 1223-42, Januar 2000
Hackler R, Arndt T, Helwig-Rolig A, Kropf J, Schaefer JR, Steinmetz A. Investigation by isoelectric focusing of the initial carbohydrate-deficient transferrin (CDT) and non-CDT transferrin isoform fractionation step involved in determination of CDT by the ChronAlcoI.D. assay. Clin Chem 2000;46:483-492.
Hess G, Reifenrath C, Friedrich-Freksa A, Beyer V, Naumann S, Schuch B, Huber C, Fischer T, Decker J. Autologous Transplantation of in vivo purged PBSC in CML : Comparison of FISH, Cytogenetics, and PCR detection of Philadelphia chromosome in Leukapheresis products. Cancer Genet Cytogenet 2000;117:1-8.
Nenoff P, Domel M, Arndt T, Haustein U-F. Staphylococcus aureus und bakterielle Toxine beim atopischen Ekzem vor und nach lokaler Glukokortikoid- und Teertherapie. Zeitschrift für Hautkrankheiten 2000;75:630-638.
1999
Adryan B, Carlguth V, Decker J. Digital image processing for rapid analysis of differentially expressed transcripts on high-density cDNA arrays.BioTechniques 1999;26:1174-1179.
Arndt T, Behnken LJ, Martens B, Hackler R. Evaluation of the cut-off for serum carbohydrate-deficient transferrin as a marker of chronic alcohol abuse determined by the ChronAlco I.D.™-Assay. J Lab Med 1999;23:507-510.
Brieger J, Weidt EJ, Gansen K, Decker J. Detection of a novel germline mutation in the von Hippel-Lindau tumor-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BESS). Clin Genet 1999;56:210-215.
Brieger J, Weidt EJ, Schirmacher P, Störkel S, Huber C, Decker J. Inverse regulation of vascular endothelial growth factor and VHL tumor suppressor gene in sporadic renal cell carcinomas is correlated with vascular growth: an in vivo study on 29 tumors. J Mol Med 1999;77:505-510.
Schmidt L, Junker K, Nakaigawa N, Kinjerski T, Weireich G, Miller M, Lubensky I, Neumann H, Brauch H, Decker J, Vocke C, Brown J, Jenkins R, Richard S, Bergerheim U, Gerrard B, Dean M, Linehan WM, Zbar B. Novel mutations of the MET proto-oncogene in papillary renal carcinomas.Oncogene 1999;18:2343-2350.
1998
Arndt T, Czylwik D, Hackler R, Helwig-Rolig A, Gilg T. Carbohydrate-deficient transferrin is not affected by serum separators. Alcohol Alcoholism 1998;33:447-450.
Arndt T, Hackler R, Kleine TO, Gressner AM. Validation by isoelectric focusing of the anion-exchange isotransferrin fractionation step involved in determination of carbohydrate-deficient transferrin by the CDTect assay. Clin Chem 1998;44:27-34.
Arndt T, Hackler R. Evaluation of carbohydrate-deficient transferrin. Clin Chem 1998;44:1069 [Letter].
Arndt T, Kropf J, Brandt R, Gressner AM, Hackler R, Herold M, van Pelt J, Mårtensson O, Salzmann S, Velmans MH. CDTect-RIA and CDTect-EIA for determination of serum carbohydrate-deficient transferrin compared. Alcohol Alcoholism; 1998;33:639-645.
Wilke A, Hesse H, Kaiser A, Ferenczy I, Arndt T, Maisch B. Carbohydrate-deficient transferrin in patients with alcoholic cardiomyopathy.J Clin Bas Cardiol 1998;1:34-36.
1997
Arndt T, Hackler R, Müller T, Kleine TO, Gressner AM. Increased serum concentration of carbohydrate-deficient transferrin in patients with combined pancreas and kidney transplantation. Clin Chem 1997;43:344-351