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Medizinische Fachpublikationen

Es ist eines unserer Ziele, und es entspricht unserem Verständnis von medizinischer Qualität, Ihnen neue Entwicklungen in der Medizin aufzuzeigen.
Wir arbeiten aktiv an der Einführung dieser Neuerungen in die tägliche Diagnostik und engagieren uns in Studienprojekten mit entsprechenden Fragestellungen. Die Ergebnisse sind in Fachzeitschriften publiziert.

Publikationen
2016 |2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997

2016

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

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.

2015

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

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

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

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.

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

2014

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.

Metzdorf M, Logemann E, Arndt T. Nachruf auf Alexander T. Shulgin (1925 – 2014). Toxichem Krimtech 2014;81:151-154.

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.

2013

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.

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.

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.

2012
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.

Arndt T. Problematik, Klinik und Beispiele der Spurenelementvergiftung – Cadmium. Toxichem Krimtech 2012;79:127-136.

Arndt T. Problematik, Klinik und Beispiele der Spurenelementvergiftung – Quecksilber. Toxichem Krimtech 2012;79:51-60.

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.

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.

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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.

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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

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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.

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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.

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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.

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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.

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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.

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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.

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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

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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.

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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.

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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.

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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.

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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.

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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

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