Hier finden Sie eine Auswahl von Originalpublikationen, die unter Beteiligung unserer Mitarbeitern entstanden sind:

Katja Strasser, Julia Hoefele, Carsten Bergmann, Anja K. Büscher, Rainer Büscher, Peter F. Hoyer, Stefanie Weber. COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9. Nephrol Dial Transplant (2012) 27: 4236-4240

Saskia Biskup, Hanns-Georg Klein. NGS-basierte Diagnostik. Laborwelt Nr. 1/2012 S.24

Ina Vogl, Sebastian H. Eck, Anna Benet-Pagès, Philipp A. Greif, Kaimo Hirv, Stefan Kotschote, Marius Kuhn, Andrea Gehring, Carsten Bergmann, Hanno Jörn Bolz, Manfred Stuhrmann, Saskia Biskup, Klaus H. Metzler, Hanns-Georg Klein. Diagnostic applications of next generation sequencing: working towards quality standards. J Lab Med 2012;36(4):227-239

Hoefele J, Büscher A, Heberle C, Konrad M, Klein HG, Weber S. Next Generation Sequencing (NGS) in der Diagnostik des Nephrotischen Syndroms. Nieren- und Hochdruckkrankheiten 41/3:140 P82 (2012)

B. Donner, C. Marshall, K. Schmidt. A presumably benign human ether-a-go-go-related gene mutation (R176W) with a malignant primary manifestation of long QT syndrome. Cardiology in the Young 2011; Page 1 of 4

H.-G. Klein, H. v. Voss. Gastkommentar Gendiagnostikgesetz (GenDG) und Patientenversorgung. J Lab Med 2011;53(5):259-260

K. Mayer: Molekulargenetische Diagnostik beim Ehlers-Danlos-Syndrom. Kapitel 3 in: Das Ehlers-Danlos-Syndrom. Eine interdisziplinäre Herausforderung. Andreas Luttkus (Hrsg). De Gruyter Verlag Berlin, S. 21-30, 2011.

Lehnen H, Schwennicke G, Rommen W, Mayer K, Maiwald R. [Maternal Ehlers-Danlos syndrome type II occuring with foetal duodenal atresia and annular pancreas: first description]. Zeitschrift für Geburtshilfe und Neonatologie. 2011; 215:83-5.

Julia Hoefele*, Karin Mayer*, Manuela Scholz and Hanns-Georg Klein. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). Nephrol Dial Transplant 2011, 26:2181-8. Epub 2010 Nov 29.

Stheneur C, Faivre L, Collod-Béroud G, Gautier E, Binquet C, Bonithon-Kopp C, Claustres M, Child AH, Arbustini E, Adès LC, Francke U, Mayer K, Arslan-Kirchner M, De Paepe A, Chevallier B, Bonnet D, Jondeau G, Boileau C. Prognosis factors in probands with a FBN1 mutation diagnosed before one year. Pediatr Res 2011; 69(3):265-70.

Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert B, Loeys B, Binquet C, Gautier E, Mayer K, Arslan-Kirchner M, Grasso M, Beroud C, Hamroun D, Bonithon-Kopp C, Plauchu H, Robinson P, De Backer J, Coucke P, Francke U, Bouchot O, Wolf J, Stheneur C, Hanna N, Detaint D, De Paepe A, Boileau C, Jondeau G. The new Ghent criteria for Marfan syndrome: what do they change? Clin Genet 2011 May 12. doi: 10.1111/j.1399-0004.2011.01703.x. [Epub ahead of print]

Denne C, Gerstl EM, Mayer K, Steinborn M, Hahn H, Burdach S. [Uncommon presentation of tuberous sclerosis in an infant]. Arch Pediatr 2011;18(6):660-4.

Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Izabela Karbassi, Sat Dev Batish, Johan T. den Dunnen, Agnies van Eeghen, Karin Mayer, Kira Dies, Li Wen, Catherine Thompson, Steven P. Sparagana, Peter Davies, Cora Aalfs, Ans van den Ouweland, Dicky Halley and Mark Nellist. Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Hum Mutat, in press.

K. Mayer, H.-D. Rott: INFORMATIONSBLATT 08. Genetische Labordiagnostik bei Tuberöse Sklerose Complex (TSC), für Tuberöse Sklerose Deutschland e.V., www.tsdev.org/deutsch/infoblaetter/fuer-etroffene/91,162,92001,verlinkung.html. 14.10.2010 (neu überarbeitete Version)

K. Mayer: Therapeutische Möglichkeiten in Leben mit TSC-Eine Krankheit mit vielen Gesichtern. Tuberöse Sklerose Deutschland e. V. (Herausgeber). © 2010 Tuberöse Sklerose Deutschland e. V.

Wiemer-Kruel A, Mayer K, Staehler M, Linsenmaier U, Fahrbach J, Weber L, Fischereder M. Tuberöse Hirnsklerose und die Auswirkungen einer Rapamycin-Therapie auf den Epilepsieverlauf - Ein ungewöhnlicher Fall mit gleichzeitiger Neurofibromatose -. Zeitschrift für Epileptologie, 2010, Volume 23, Number 1, Pages 6-13

Détaint D, Faivre L, Collod-Beroud G, Child AH, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Kiotsekoglou A, De Backer J, Adès L, Francke U, De Paepe A, Boileau C, Jondeau G. Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J. 2010;31(18):2223-9.

Stefan Kotschote, Carola Wagner, Christoph Marschall, Karin Mayer, Kaimo Hirv, Martin Kerick, Bernd Timmermann, Hanns-Georg Klein. Translation of next-generation sequencing (NGS) into molecular diagnostics / Umsetzung von Next Generation Sequencing in der molekularen Diagnostik. J Lab Med 2010;34(6):311–318.

Mayer K, Kennerknecht I, Steinmann B. Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII. Eur J Hum Genet. 2010 Sep;18(9). doi: 10.1038/ejhg.2009.227. Epub 2010 Feb 10

K. Mayer: Möglichkeiten der Molekulargenetische Diagnostik beim Ehlers-Danlos Syndrom in Was ist das Ehlers-Danlos Syndrom? Herausgeber Deutsche Ehlers-Danlos Initiative. Neuauflage September 2009. 

Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med Genet A. 2009 May;149A(5):854-60.

Faivre L, Masurel-Paulet A, Collod-Béroud G, Callewaert BL, Child AH, Stheneur C, Binquet C, Gautier E, Chevallier B, Huet F, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Halliday DJ, Béroud C, Bonithon-Kopp C, Claustres M, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics. 2009 Jan;123(1):391-8.

Faivre L, Collod-Beroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Eur J Hum Genet. 2009 Apr;17(4):491-501. Epub 2008 Nov 12.

K.Mayer: Indication criteria for disease: Tuberous sclerosis (TSC) [TSC1, TSC2]. Veröffentlicht in deutscher Sprache am 21.5.2008 auf gfhev.de/de/leitlinien/Diagnostik_LL.htm und in englischer Sprache 2009

Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G. Hum Mutat. 2009 Feb;30(2):181-90.

S. Ashraf, B. E. Hoskins, H. Chaib, J. Hoefele, A. Pasch, P. Saisawat, F. Trefz, H. W. Hacker, G. Nuernberg, P. Nuernberg, E.A. Otto, F. Hildebrandt, Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24, Nephrol Dial Transplant (2009).

M. Hulpke-Wette, C. Marschall, R. Buchhorn, J. Nothroff, H.-G. Klein. A novel fibrillin-1 mutation within the „neonatal region“ in an infant with neonatal Marfan syndrome with severe cardiac manifestation. (Eingereicht 2008).

C. Flotho, D. Steinemann, C.G. Mullighan, G. Neale, K. Mayer, C. P. Kratz, B. Schlegelberger, J. R. Downing, C. M. Niemeyer. Genome-wide single nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. Oncogene, in press, (2007).

H.-G. Klein, H. Funke, M. Neumaier, Th. Langmann, C. Knabbe, P. Cullen. Kriterien für den Einsatz von Einzelnukleotidpolymorphismen (SNPs) in der medizinischen Routinediagnostik: Erarbeitung technischer und diagnostischer Empfehlungen. J. Lab. Med. 30:142-151 (2006)

R. Wienecke, I. Fackler, U. Linsenmaier, K. Mayer, T. Licht, M. Kretzler. Antitumoral activity of rapamycin in renal angiomyolipoma associated with tuberous sclerosis complex. Am. J. Kidney Dis. 48: e27-e29, 2006.

H.-G. Klein und K. Mayer. Molekulare Grundlagen der autosomal-dominanten polyzystischen Nierenerkrankung. DADE BEHRING NEWS 1 · 2006, 2006.

T Bohrer, H.-G. Klein, O. Elert. Left ventricular non-compaction associated with a genetic variant of the CYP2C9 gene. Heart Lung Circ. 15(4):269-71 (2006)

F. Thiemann, P.M. Cullen, H.-G. Klein. Leitfaden Molekulare Diagnostik. Wiley-VCH Verlag, Weinheim, 2006.

M. Nellist, O. Sancak, M.A. Goedbloed, C. Rohe, D. van Netten, K. Mayer, A. Tucker-Williams, A.M. van den Ouweland, D.J. Halley. Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex. Eur. J. Hum. Genet. 13: 59-68, 2005.

K. Mayer and C. Marschall. Molekulargenetische Diagnostik von Bindegewebserkrankungen. J. Lab. Med. 29:176–193, 2005.

I. Rost, H.-G. Klein, Genetic testing for diseases associated with mental retardation. J. Lab. Med. 29:152-161 (2005)

R. Besch, C. Marschall, T. Schuh, C. Giovannangeli, C. Kammerbauer, K. Degitz. Triple helix-mediated inhibition of gene expression is increased by PUVA. J. Invest. Dermatol. 122:1114-20, 2004.

H.-G. Klein, D. Gorinevski, J. Hörmann, C. Marschall, K. Mayer, M. Vanetti. Whole genome microarray analysis and target validation by qPCR. J. Lab. Med. 28:215–224, 2004.

K. Mayer, M. Goedbloed, K. van Zijl, M. Nellist, H.-D. Rott. Characterization of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis. J. Med. Genet .  41: e64, 2004.

J.R. Bogner, B. Lutz, H.-G. Klein, C. Pollerer, U. Troendle, F.-D. Goebel. Association of highly active antiretroviral therapy failure with chemokine receptor 5 wild type. HIV Med. 5:264-72, 2004.

T.Siegert, H.-G. Klein, C. Marschall, H. Schmidt. Osteogenesis imperfecta Typ I: Fallbericht mit bis dato nicht beschriebener Mutation im COL1A1-Gen. Klin. Pädiatr. 216:91-93, 2004.

K. Mayer. Application of the protein truncation test (PTT) for the detection of tuberous sclerosis complex type 1 and 2 (TSC1 and TSC2) mutations.
Methods. Mol. Biol. 217: 329-44, 2003.

H.-G. Klein, J. Rauch, B. Busse, U. Grau, C. Marschall. Single Nucleotide Polymorphisms in der medizinischen Prädispositionsdiagnostik. Frauenarzt 44:30-39 (2003)

C. Marschall. Molekularbiologie und Genetik des Alterns. in: Lifestyle und Anti-Aging-Medizin. T. Rabe & T. Strowitzki (Hrsg.) Rendezvous, Baden-Baden 12-23, 2002.

Ch. Marschall, H.-G. Klein. Analyzing Gene Expression: Established and new ways to analyze gene expression at the mRNA and protein levels – potentialities and pitfalls. S. Lorkowski, P. Cullen (Hrsg.), Wiley-VHC-Verlag, 2002

H.-D. Rott, B. Lemcke, M. Zenker, W. Huk, J. Horst, K. Mayer. Cyst-like cerebral lesions in tuberous sclerosis. Am. J. Med. Genet. 111: 435-9, 2002.

Ch. Marschall, H.-G. Klein. Analyzing Gene Expression: Established and new ways to analyze gene expression at the mRNA and protein levels – potentialities and pitfalls. S. Lorkowski, P. Cullen (Hrsg.), Wiley-VHC-Verlag, 2002

H.-G. Klein, U. Grau. Arzneimittelnebenwirkungen vermeiden: Möglichkeiten der pharmako-genetischen Diagnostik. J. Lab. Med. 11/12:477-484, 2001.

W. Höppner, H.-G. Klein, A. Ruppert. Die massenspektrometrische DNA-Analyse für die humane Diagnostik. J. Lab. Med. 11/12: 463-468, 2001.

A.K. Birnberger, H.-G. Klein. Mus musculus chymotrypsin-like protease (Ctra1) gene, exons 1 through 7. NCBI, Acc. No. AF274232, 2000.

K. Mayer, W. Ballhausen, W. Leistner, H.-D. Rott. Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences. Biochim. Biophys. Acta 1502: 495-507, 2000.

J. Hass, K. Mayer, H.-D. Rott. Tuberous sclerosis type 1: Three novel mutations detected in exon 15 by a combination of HDA and TGGE. Hum. Mutat. 16: 88 (#336 online), 2000.

K. Mayer, W. Ballhausen, H.-D. Rott . Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects. Hum. Mutat. 14: 401-411, 1999.

C. Marschall, E. Lengyel, T. Nobutoh, E. Braungart, K. Douwes, A. Simon, V. Magdolen, U. Reuning, K. Degitz. UVB increases urokinase-type plasminogen activator receptor (uPAR) expression. J. Invest. Dermatol. 113(1):69-76, 1999.

K. Mayer, H.-D. Rott. Molekulargenetische Diagnostik bei tuberöser Sklerose (TSC): Erfahrungen mit dem Protein Truncation Test (PTT). Medgen 10: 27-31, 1998.

H.-D. Rott, K. Mayer. Klinik und Genetik der tuberösen Sklerose. Pädiat. Prax. 56: 233-244, 1998.

C. Marschall, M. Kreimer, D. Weichart, A. Kolb, R. Hengge-Aronis. Molecular analysis of the regulation of csiD, a carbon starvation-inducible gene in Escherichia coli that is exclusively dependent on sigma s and requires activation by cAMP-CRP. J. Mol. Biol. 276(2):339-53, 1998.

H.-G. Klein. Genetische Prädisposition für Tumorerkrankungen. mta 13:76-82, 1998.

C. Detter, H. Mair, H.-G. Klein, C. Georgescu, A. Welz, B Reichart. Long-term prognosis of surgically-treated aortic aneurysms and dissections in patients with and without Marfan syndrome. Eur. J. Cardiothorac. Surg. 13:416-423, 1998

G. Collod-Béroud, C. Béroud, L. Ades, C. Black, M. Boxer, D.J. Brock, K.J. Holman, A. de Paepe, U. Francke, U. Grau, C. Hayward, H.-G. Klein, W. Liu, L. Nuytinck, L. Peltonen, A.B. Alvarez Perez, T. Rantamäki, C. Junien, C. Boileau. Marfan Database (third edition): new mutations and new routines for the software. Nucl. Acids Res. 26:229ff, 1998.

U. Grau, H.-G. Klein, C. Detter, H. Mair, A. Welz, D. Seidel, B Reichart. A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan Syndrome (MfS). Hum. Mut. 12:137ff. Mutation in Brief # 163, 1998.

A. Burger-Kentischer, E. Müller, H.-G. Klein, A. Schober, W. Neuhofer, F.X. Beck. Cationic amino acid transporter mRNA expression in rat kidney and liver. Kidney Int. Suppl. 67, 54:136-138, 1998.

K. Mayer, T. Hieronymus, J. Castrop, H. Clevers, W. Ballhausen. Ectopic activation of lymphoid high mobility group-box transcription factor TCF-1 and overexpression in colorectal cancer cells. Int. J. Cancer 72: 625-630, 1997.

A. Muffler, M. Barth, C. Marschall, R. Hengge-Aronis. Heat shock regulation of _s turnover and the relationship between the stress responses mediated by _s and _32 in Escherichia coli. J. Bacteriol. 179:445-452, 1997.

K. Mayer, W. Ballhausen. Expression of alternatively spliced lck transcripts from the proximal promoter in colorectal cancer derived cell lines. Anticancer Res. 16: 1733-1737, 1996.

H.-G. Klein. Die Bedeutung der molekularen Genetik in der Medizin. Der Bay. Int. 15:50-58, 1996.

M. Barth, C. Marschall, A. Muffler, D. Fischer, R. Hengge-Aronis. Role for the Histone-Like Protein H-NS in Growth Phase-Dependent and Osmotic Regulation of _s and Many _s-Dependent Genes in Escherichia coli. J. Bacteriol. 177:3455-3464, 1995.

C. Marschall, R. Hengge-Aronis. Regulatory characteristics and promotor analysis of csiE, a stationary phase-inducible gene under the control of _s and cAMP-CRP complex in Escherichia coli. Mol. Microbiol. 18:175-184, 1995.

K. Mayer, E. Wolff, H. Clevers, W. Ballhausen. The human high mobility group (HMG)-box transcription factor TCF-1: novel isoforms due to alternative splicing and usage of a new exon IXA. Biochim. Biophys. Acta 1263: 169-172, 1995.

B. Vaismann, H.-G. Klein, M. Rouis, A. Berard, M.R. Kindt, G.D. Talley, S.M. Meyn, R.F. Hoyt Jr., S.M. Marcovina, J.J. Albers, J.M. Hoeg, H.B. Brewer Jr., S. Santamarina-Fojo. Overexpression of human lecithin-cholesterol acyltransferase leads to hyperalphalipo-proteinemia in transgenic mice. J. Biol. Chem. 270:12269-12275, 1995.

H.-G. Klein, N. Duverger, J.J. Albers, S. Marcovina, H.B. Brewer Jr., S. Santamarina-Fojo. In vitro expression of structural defects in the lecithin-cholesterol acyltransferase (LCAT) gene. J. Biol. Chem. 270:9443-9447, 1995.

H.-G. Klein, S. Santamarina-Fojo, N. Duverger, M. Clerc, M.F. Dumas, J.J. Albers, S. Marcovina, H.B. Brewer Jr. Fish Eye Syndrome: A molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal a-LCAT specific activity - Implications for classification and prognosis. J. Clin. Invest. 92:479-485, 1993.

C. Marschall, P. Frenzel, H. Cypionka. Influence of oxygen on sulfate reduction and growth of sulfate-reducing bacteria. Arch. Microbiol. 159:168-173, 1993.

 
H.-G. Klein, P. Lohse, N. Duverger, J.J. Albers, D.J. Rader, L.A. Zech, S. Santamarina-Fojo, H.B. Brewer Jr. Two different allelic mutations in the lecithin-cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (Tyr83->Stop) and LCAT (Tyr156-> Asn). J. Lipid Res. 34:49-58, 1993.

K. Mayer , I. Ansotegui, W. Ballhausen. The human lck cDNA clone YT16 is a transforming oncogene. Anticancer Res. 12: 485-8, 1992.

H.-G. Klein, P. Lohse, P.H. Pritchard, D. Bojanovski, H. Schmidt, H.B. Brewer Jr. Two different allelic mutations in the lecithin-cholesterol acyltransferase (LCAT) gene associated with the Fish Eye Syndrome. Lecithin-cholesterol acyltransferase (Thr123->Ile) and lecithin-cholesterol acyltransferase (Thr347->Met). J. Clin. Invest. 89:499-506, 1992.

R.P. Linke, H.-G. Klein, S. Modrow, M. Marin-Grez. Isolated atrial amyloid deposits. Immunochemical evidence for the presence of polypeptide with molecular weightshigher and lower than atrial natriuretic peptide (ANP). J.B. Navig (Hrsg.), Amyloid and Amyloidosis, S. 466-469, 1991.

H.-G. Klein, H. v. Voss. Gastkommentar Gendiagnostikgesetz (GenDG) und Patientenversorgung. J Lab Med 2011;53(5):259-260

Schell-Apacik C, Cohen M, Vojta S, Klopocki E, Ullmann R, Ertl-Wagner B, Heinrich U, von Voss H. Gomez-Lopez-Hernandez syndrome – description of a new case and review of the literature. Med Genetik 2006;1:

Weimer, J., Cohen, M., Wiedemann, U., Heinrich, U., Jonat, W., Arnold, N.: Proof of partial imbalances 6q an 11q due to maternal complex balanced translocation analyzed by microdissection of multi colour labelled chromosomes (FISH-MD) in a patient with Dandy-Walker variant. Cytogenet Genome Res 114: 235-239 (2006).

Heinrich, U., Locher, M. und Wagner, A.: Klassische und molekulare Zytogenetik. In: Thiemann, F., Cullen, P. M. und Klein, H.(Hrsg): Leitfaden Molekulare Diagnostik, S. 197-213. WILEY-VCH Verlag, Weinheim, 2006.

K. Mayer and C. Marschall. Molekulargenetische Diagnostik von Bindegewebserkrankungen. J. Lab. Med. 29:176–193, 2005.

C. Walczak, U. Heinrich, O. Beringer, H. Enders: UPD 15 and CPM for trisomy 15: PWS due to increased maternal age. Med Genetik 1/99.

U. Pesch, I. Chudoba, U. Heinrich, C. Backsch, K. Meister, D. Krüger, H. Enders: Characterization of a der(Y) chromosome by microdissection and reverse painting. Med Genetik 1/99.

K. Meister, I. Chudoba, U. Heinrich, C. Backsch, U. Pesch, U. Mau, H. Enders, P. Kaiser: Application of micro-FISH to characterize an ESAC and a pericentric inversion. Med Genetik 1/99.

U. Heinrich, C. Backsch, A. Mannikainen, C. Frymire, U. Klein-Vogler, H. Enders, P. Kaiser: Discrepant short term and long term culture results after CVS. Med Genetik 1/98.

L.Lehmann, H. Zitzelsberger, A. M. Kellerer, H. Braselmann, U. Kulka, V. Georgiadou-Schumacher, T. Negele, F. Spelsberg, E. Demidchik, E. Lengfelder, M. Bauchinger. Chromosome translocations in thyroid tissues from Belarussian children exposed to radioiodine from the Chernobyl accident, measured by FISH-painting. Int J Radiat Biol, Vol. 70(5). pp 513-516. 1996

K. Salassidis, V. Georgiadou-Schumacher, H. Braselmann, P. Muller, R. U. Peter, M. Bauchinger. Cromosome painting in highly irradiated Chernobyl victims: a follow-up study to evaluate the stability of symmetrical translokations and the influence of clonal aberrations for retrospective dose estimation. Int J Radiat Biol, Vol. 68(3). pp 257-262. 1996

M. Bauchinger, H. Braselmann, U. Kulka, R. Huber, V. Georgiadou-Schumacher. Quantification of FISH-painted chromosome aberrations after domestic radon exposure. Int J Radiat Biol, Vol. 70(6). pp 657-663. 1996

U. Heinrich, U. Klein-Vogler, C. Backsch, M. Schliephacke, M. Schneider, H. Enders, E. Wiest, P. Kaiser: Demonstration of a der(11) and a der(12) chromosome, respectively, in two related persons as a consequence of a familial translocation t(11;12) by cytogenetic analysis and FISH. Med Genetik 2/95.

U. Heinrich, M. Leipoldt: Cytogenetic analysis of 15 cases of uterine leiomyomas. Abstracts der 4. Tagung der Gesellschaft für Humangenetik 1992.

Heinrich, U., Locher, M. und Wagner, A.: Klassische und molekulare Zytogenetik. In: Thiemann, F., Cullen, P. M. und Klein, H.(Hrsg): Leitfaden Molekulare Diagnostik, S. 197-213. WILEY-VCH Verlag, Weinheim, 2006.

Wagner A, Wiedemann U, Klein H-G, Würfel W, Gagsteiger F. Möglichkeiten und Grenzen der Polkörperdiagnostik. Bioforum-Zellbiologie April: 23 - 24 (2004)

Bartsch O, Nemeckova M, Kocarek E, Wagner A, Puchmajerova A, Poppe M, Ounap K, Goetz P  DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion Am J Med Genet 117(1):1-5 (2003)

Bartsch O, Locher K, Meinecke P, Kress W, Seemanová E, Wagner A, Ostermann K, Rödel G Molecular studies in 10 cases of Rubinstein-Taybi syndrom, including a mild variant showing a missense mutation in codon 1175 of CREBBP J Med Genet 39 (7): 496-501 (2002)

Bartsch O, Wagner A, Hinkel GK, Krebs S, Stumm M, Schmalenberger B, Böhm S, Balci S, Majewski F FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart, renal agenesis and death in infancy Eur J Hum Genet 7:748-756 (1999)

Bartsch O, Kreß W,  Wagner A, Seemanová E The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogonadism and deletion in Xq28: report of the first family. Cytogenet Cell Genet 85: 310 - 314 (1999)

Bartsch O, Wagner A, Hinkel GK, Lichtner P, Murken J, Schuffenhauer S No evidence for chromosomal microdeletions at the second DiGeorge syndrom locus on 10p (letter) Am J Med Genet 83:425-426 (1999)

B. Grumbt, S. Stojanov, K. Hirv. Genetische Fiebersyndrome – Bedeutung für die kinderärztliche Praxis. Kinderärztliche Praxis 15.7.2011, 82. Jahrgang, Seite 232 – 241

Hirv K, Bloch K, Fischer M, Einsiedler B, Schrezenmeier H, Mytilineos J. Prediction of duration and success rate of unrelated hematopoietic stem cell donor searches based on the patient's HLA-DRB1 allele and DRB1-DQB1 haplotype frequencies. Bone Marrow Transplant (accepted for publication).

Hinrichs J, Figueiredo C, Hirv K, Mytilineos J, Blasczyk R, Horn PA, Eiz-Vesper B. Discrimination of HLA null and low expression alleles by cytokine-induced secretion of recombinant soluble HLA. Mol Immunol 2009 Feb 3; (Epub ahead of print). DOI: 10.1016/j.molimm.2008.12.011.

Hirv K, Pannicke U, Mytilineos J, Schwarz K. Disulfide bridge disruption in the ?2 domain of the HLA class I molecule leads to low expression of the corresponding antigen. Hum Immunol 2006;67:589-596.

Stachel DK, Leipold A, Kuhlen M, Gravou-Apostolatou C, Hirv K, Bader P, Niemeyer CM, Beck JD, Holter W. Simultaneos control of third-degree graft-versus-host disease and prevention of recurrence of juvenile myelomonocytic leukemia (JMML) with 6-mercaptopurine following fulminant JMML relapse early after KIR-mismatched bone marrow transplantation. J Pediatr Hematol Oncol 2005;27:672-674.

K. Hoelsch, I. Lenggeler, W. Pfannes, H. Knabe, H.-G. Klein, A. Wölpl. Routine HLA-B genotyping with PCR-sequence-specific oligonucleotides detects a B*52 variant (B*5206). Tissue Antigens. 65(5):488-92, 2005.

K. Witter, A. Wölpl, R. Zahn, H.-G. Klein, E.D. Albert. Sequence-based typing confirmed a novel B*40 allele, B*4046, which was identified through sequence-specific oligonucleotide hybridization routine typing. Tissue Antigens 63(4):378-81, 2004.

Eichler, H., Wölpl, A., Goldmann, S.F. Sample identification errors in cord blood banking. Tissue Antigens 57; 91-92, 2001

 
Eichler, H., Wölpl, A., Schwarz, K., Richter, E., Goldmann, S.F. Sample identification errors observed within a study for molecular cord blood HLA typing. Infusion Therapy and Transfusion Medicine 27: 16-18, 2000

Arndt, SO., Vogt, AB., Markovic-Plese, S., Martin, R., Moldenhauer, G., Wölpl, A., Sun, Y., Schadendorf, D., Hämmerling, GJ., Kropshofer, H.: Functional HLA-DM on the surface of B cells and immature dendritic cells. Embo Journal 19, 1241-1251, 2000

Elsner, H.-A., Wölpl, A., Goldmann, S. F., Blasczyk, R. Identification of the novel allele HLA-B* 1546 which belongs to the serological B72 type: implications for bone marrow transplantation Tissue Antigens 55; 83-85, 2000

Hirv K, Seyfarth M, Uibo R, Kull K, Salupere R, Latza U, Rink L. Polymorphisms in tumour necrosis factor and adhesion molecule genes in patients with inflammatory bowel disease: associations with HLA-DR and --DQ alleles and subclinical markers. Scand J Gastroenterol 1999;34:1025-1032.

Schwarz, K., Wölpl, A., Spegel, J., Mueller, C., Goldmann, S. F. Caucasian German Normal In: HLA 1998 (Editors: D.W. Gjertson & P.I. Terasaki) American Society for Histocompatibility and Immunogenetics Lenexa, Kansas, USA, 1998, S. 149

 
Eichler, H., Richter, E., Schwarz, K., Woelpl, A., Goldmann, S. F. Turkish Normal In: HLA 1998 (Editors: D.W. Gjertson & P.I. Terasaki) American Society for Histocompatibility and Immunogenetics Lenexa, Kansas, USA, 1998, S. 190-191

 
Eichler, H., Richter, E., Schwarz, K., Woelpl, A., Goldmann, S. F. Caucasian German Normal. In: HLA 1998 (Editors: D.W. Gjertson & P.I. Terasaki) American Society for Histocompatibility and Immunogenetics Lenexa, Kansas, USA, 1998, S. 150-151

Löffler, D., Welschof, M., Goldmann, S. F., Wölpl, A. Recognition of HLA-DR1/DRB1*0101 molecules presenting HLA-A2 derived peptides by a human recombinant antibody, Fab-5A1. European Journal of Immunogenetics 25, 339-347, 1998

 
Wölpl, A., Halden,T., Kalbacher, H., Neumeyer, H., Siemoneit, K., Goldmann, S. F., Eiermann, Th. Human monoclonal antibody with T-cell-like specifity recognizes MHC class I self-peptide presented by HLA-DR1 on activated cells. Tissue Antigens 51; 258-269 1998

 
Wagner, F., Simoneit, K., Wölpl, A., Flegel.: Humaner monoklonaler Antikörper gegen enzymbehandelte Erythrozyten. Beitr. Infusionsther. Transfusionsmed. Basel, Karger, 33, 40-42, 1996

 
Schreiner, Th., Prochnow-Calzia, H., Maccari, B., Erne, E., Kinzler, I., Wölpl, A., Wiesneth, M. Chimerism analysis after allogenic bone marrow transplantation with nonradioactive RFLP and PCR-AFLP using the same DNA. Journal of Immunological Methods, 196, 93-96, 1996

 
Wölpl, A., Toubert, A., Siemoneit, K., Eiermann, Th., Neumayer H., Goldmann, S. F. Characterization of two human IgM monoclonal antibodies reactive with HLA-B27. Tissue Antigens 46; 305 - 312, 1995

 
Siemoneit, K., Cardoso, M., Koerner, K., Wölpl, A., Kubanek. Human monoclonal antibodies for the immunological characterization of a highly conserved protein domain of the hepatitis C virus glycoprotein E1. Clin. Exp. Immunol. 101, 278-283, 1995

Driessen C, Hirv K, Wellinghausen N, Kirchner H, Rink L. Influence of serum on zinc, toxic shock syndrome toxin-1, and lipopolysaccharide-induced production of IFN-gamma and IL-1 beta by human mononuclear cells. J Leukoc Biol 1995;57:904-908

Driessen C, Hirv K, Kirchner H, Rink L. Divergent effects of zinc on different bacterial pathogenic agents. J Infect Dis 1995;171:486-489.

Driessen C, Hirv K, Kirchner H, Rink L. Zinc regulates cytokine induction by superantigens and lipopolysaccharide. Immunology 1995;84:272-277.

Driessen C, Hirv K, Rink L, Kirchner H. Induction of cytokines by zinc ioins in human peripheral blood mononuclear cells and separated monocytes. Lymphokine Cytokine Res 1994;13:15-20.

Siemoneit, K., Cardoso, M., Wölpl, A., Epple, S., Wintersinger, H., Koerner, K., Kubanek, K. Isotype-specific immune response to a sigle hepatits C virus core epitope defined by a human monoclonal antibody: diagnostic value and correlation to PCR. Ann Hematol, 69, 129-133, 1994

 
Wölpl, A., Fischer, M., Eiermann, Th., Goldmann, S. F. Vergleich der HLA-Typisierungs- und Retypisierungsdaten bei Patienten mit Knochenmarktransplantation. Beitr. Infusionsther. Transfusionsmed. 32; 266 - 269, 1994

 
Siemoneit, K., Cardoso, M., Wölpl, A., Koerner, K., Kubanek,.K. Isolation and epitope characterization of human monoclonal antibodies to Hepatitis C virus core antigen. Hybridoma 13, 9-13, 1994

Siemoneit, K., Wölpl, A., Wegener, S., Ernst, M., Sonneborn, H.-H., Goldmann, S. F. Generation and characterization of a human monoclonal IgG antibody specific for HLA-B12. Tissue Antigens 44; 25 - 33, 1994

 
Eiermann, Th., Ballas, M., Fakler, J., Müller, C., Wölpl, A., Goldmann, S. F. Selection of unrelated bone marrow donors: Does the current procedure warrant complete MHC class II identity? Beitr. Infusionsther. 30; 320 - 323, 1992

 
Knobloch, C., Wölpl, A., Ballas, M., Friedrich, W., Goldmann, S. F. HLA class II recognition of T cells differentiated in HLA semiallogeneic environment following bone marrow transplantation for severe combined immunodeficiency. HLA 1991, Vol. II (Editors: Tsuji, K., Aizawaam M., Sasazuki, T.), Oxford University Press, Oxford, New York, Tokyo; 449 - 451, 1992

 
Eiermann, Th., Ballas, M., Fakler, J., Wölpl, A., Goldmann, S. F. Selection of unrelated marrow donors: Does the current procedure warrant complete MHC class II identity? Infusionstherapie 19; 127 - 129, 1992

 
Ballas, M., Eiermann, Th., Wölpl, A., Goldmann, S. F. Mapping of an HLA-DRw52-associated determinant on DRb1 molecules. Tissue Antigens 36; 187 - 193, 1990

 
Goldmann, S. F., Eiermann, Th., Wölpl, A., Ballas, M. Mapping of an HLA-DRw52 associated determinant on DRb1 molecules. In: Visuals of the Clinical Histocompatibility Workshop (Editor: Terasaki, P.) One Lambda Inc., Los Angeles; 194 -195, 1990

 
Goldmann, S. F., Ballas, M., Eiermann, Th., Wölpl, A. Discrimination capacity of class II RFLP patterns in unrelated HLA-A, B, DR identical patient donor combinations. In: Visuals of the Clinical Histocompatibility Workshop (Editor: Terasaki, P.) One Lambda Inc., Los Angeles; 88 - 92, 1990

 
Eiermann, Th., Winkelmann, S., Ballas, M., Wölpl, A., Goldmann, S. F. Alloreactive T-cell clones raised in an HLA-B/D crossing over family dissect HLA-DR5 and HLA-DQw3 subtypes. Human Immunology 29; 117-130, 1990

 
Wölpl, A., Ballas, M., Eiermann, Th., Martin, R., Grosse-Wilde, H., Goldmann, S. F. DRw15 associated MLC heterozygousity confirmed by RFLP typing. In: European Histocompatibility conference, Council of Europe, Strasbourg; 190a - 190c, 1990

 
Ballas, M., Wölpl, A., Eiermann, Th., Knobloch, C., Goldmann, S. F. HLA-Class II typing by RFLP and protein chemistry reveal discrepances relevant in unrelates donor bone marrow transplantation. In: European Histocompatibility Conference, Council of Europe, Strasbourg; 86a - 86c, 1990

 
Eiermann, Th., Winkelmann, S., Ballas, M., Wölpl, A., Goldmann, S. F. Alloreactive T cell clones raised in an HLA-B/D crossing over family dissect HLA-DR5 and HLA-DQw3 subtypes. In: European Histocompatibility Conference, Council of Europe, Strasbourg; 28a - 28c, 1990

 
Ballas, M., Eiermann, Th., Wölpl, A., Goldmann, S. F. The allelic determinants HLA-DR3 and HLA-DR5 and the supertypic determinant HLA-DRw52 may be located on the same DRb chain. In: Immunbiology of HLA, Vol. II (Editor: Dupont, B.), Springer Verlag New York, 263, 1989;

Eiermann, Th., Wölpl, A., Ballas, M., Heinz, W., Arnold, R., Heit, W., Goldmann, S. F. Risk factors for GvhD and Graft Rejection in Bone Marrow Transplantation from HLA identical siblings. Bone Marrow Transplantation 4 (Suppl. 2); 116, 1989

 
Eiermann, Th., Krause, S., Wölpl, A., Ballas, M., Goldmann, S. F. Monoclonal antibody to a supertypic determinant associated with HLA-DRw52. Hybirdoma 8; 467-474, 1989

 
Steuer, M., Mauff, G., Adam, C., Baur, M. P., Bender, K., Goetz, J., Goldmann, S. F., Hauptmann, G., Neugebauer, M., Tongio, M. M., Uring-Lambert, B., Wölpl, A. An estimate on the frequency of duplicated haplotypes and silent alleles of hum C4 protein polymorphism. I. Investigation in healthy Caucasoid families. Tissue Antigens 33, 501-510, 1989

A. Wölpl, Goldmann, S. F., Eiermann, Th., Arnold, R. Die Bedeutung der Klasse III und GLO-Allele bei der Auswahl von HLA-identischen Knochenmarkspendern. In: Beiträge zur Infusionstherapie und klinische Ernährung (Hrsg.: Kretschmar, V., Stangel, W.), Karger Verlag, Basel 18; 326 - 328, 1987

 
Goldmann, S. F., Ebell, W., Blütters-Sawatzki, R., Eiermann, Th., Kreth, W., Wölpl, A., Friedrich, W. Graft versus Host Reaktion (GvHR) nach perinataler maternofetaler Transfusion bzw. nach Substitution mit Blutzellen: Der diagnostische Wert der HLA-Testung. In: Beiträge zur Infusionstherapie und klinische Ernährung (Hrsg.: Kretschmar, V., Stangel, W.), Karger Verlag, Basel 18; 321 - 325, 1987

 
Goldmann, S. F., Wölpl, A., Eiermann, Th. Erfahrungen bei der Suche eines histokompatiblen Knochenmarkspenders in der Familie und in der nichtverwandten Bevölkerung In: Beiträge zur Infusionstherapie und klinische Ernährung (Hrsg.: Kretschmar, V., Stangel, W.), Karger Verlag, Basel 18; 305 - 309, 1987

Eiermann, Th., Raghachavar, A., Wölpl, A., Ballas, M., Fischer, M., Goldmann, S. F. Generation and characterization of three new monoclonal antibodies detecting the allospecifities HLA-A2, w69, HLA-A3 and HLA-B13. Tissue Antigens 29; 201 - 207, 1987

 
A. Wölpl, Goldmann, S. F., Eiermann, Th., Arnold, R. Discrimination value of class III and glyoxalase alleles for selection of histocompatible bone marrow donors. Transplantation Proceedings 19; 2632 - 2635, 1987

 
Eiermann, Th., Martin, A., Wölpl, A., Goldmann, S. F. Evidence for a lymphocyte activation determinant coded by the HLA-region different from HLA-DR, DQ and DP. Transplantation Proceedings 19; 866 - 869, 1987

 
Wölpl, A., Lattke, H., Board, P. G., Arnold, R., Schmeiser, T., Kubanek, B., Robin-Winn, M., Pichlmayr, R., Goldmann, S. F. Coagulation factor XIII A and B subunits in bone marrow and liver transplantation. Transplantation 43; 151 - 153, 1987

Wölpl, A., Lattke, H., Arnold, R., Schmeiser, T., Kubanek, B., Robin-Winn, M., Pichlmayr, R., Goldmann, S. F. Site of synthesis of different molecules can be detected after organ transplantation. Transplantation Proceedings 18; 1343 - 1346, 1986

 
Wölpl, A., Robin-Winn, M., Pichlmayr, R., Goldmann, S. F. Fourth component of complement (C4) polymorphism in human orthotopic liver transplantation.Transplantation 40; 154 - 157, 1985

 
Northoff, H., Wölpl, A., Brewersdorf, H., Faulhaber, JD. An ABO-Blood group abnormality leading to the detection of a Colon-Carcinoma. Blut 46, 161-164, 1983

 
Wölpl, A., Goldmann, S. F. Definition of three monocyte specific antigens with human alloantisera. Transplantation Proceedings 15; 232 - 237, 1983

H.-G. Klein,  B.Busse, Pharmacogenetics in Laboratory Diagnostics, Current Pharmacogenomics & Personalized Medicine, Vol. 6, No. 1, 2008

F. Rückerl, B. Busse, J. Bachl, Episomal vectors to monitor and induce somatic hypermutation in human Burkitt-Lymphoma cell lines Molecular Immunology 43:1645–1652, 2006

B. Busse, H.-G. Klein. Pharmakogenetik – Der differenzierte Blick auf die Patienten. Biologen heute. 2:2-7, 2005

B. Busse, H.G. Klein, Pharmakogenetik, Chancen für bessere  Pharmakokinetik. Biologen heute, 2:,2005

B. Busse, Genetisch bedingte Nebenwirkungen vermeiden, Deutsches Ärzteblatt/Praxis Computer 2/2004

B. Busse, U. Grau, H.-G. Klein, Pharmakogenetik  Ermittlung der individuellen Effektivität von Arzneimitteln und Vermeidung von Nebenwirkungen, MTA Dialog, 2004

B. Busse, Pharmakogenetik: Der DrugProfiler hilft, Medikamente individuell zu dosieren, Trillium-Report 2(2):12, 2004

H.-G. Klein, J. Rauch, B. Busse, U. Grau, C. Marschall, Single Nucleotide Polymorphisms in der medizinischen Prädispositionsdiagnostik
Der Frauenarzt 44:1, 2003

Würfel W, Klein HG, Wagner A, Hinrichsen T. Genetisches Spiegelbild der Eizelle: Den Polkörper diagnostisch nutzen. Ärtzliche Praxis; Gynäkologie. 2008 Dez

Heuser M, Argiropoulos B, Kuchenbauer F, Yung E, Piper J, Fung S, Schlenk RF, Dohner K, Hinrichsen T, Rudolph C, Schambach A, Baum C, Schlegelberger B, Dohner H, Ganser A, Humphries RK. MN1 overexpression induces acute myeloid leukemia in mice and predicts ATRA resistance in patients with AML. Blood. 2007 Sep 1;110(5):1639-47. Epub 2007 May 9.

Heinrich U, Locher M und Wagner A: Klassische und molekulare Zytogenetik. In: Thiemann F, Cullen PM und Klein H(Hrsg): Leitfaden Molekulare Diagnostik, S. 197-213. WILEY-VCH Verlag, Weinheim (2006)

Steinemann D, Skawran B, Becker T, Tauscher M, Weigmann A, Wingen L, Tauscher S, Hinrichsen T, Hertz S, Flemming P, Flik J, Wiese B, Kreipe H, Lichter P, Schlegelberger B, Wilkens L.Assessment of differentiation and progression of hepatic tumors using array-based comparative genomic hybridization. Clin Gastroenterol Hepatol. 2006 Oct;4(10):1283-91. Epub 2006 Sep 18.

K. Mayer, T. Hieronymus, J. Castrop, H. Clevers, W. Ballhausen. Ectopic activation of lymphoid high mobility group-box transcription factor TCF-1 and overexpression in colorectal cancer cells. Int. J. Cancer 72: 625-630 (1997)

K. Mayer, W. Ballhausen. Expression of alternatively spliced lck transcripts from the proximal promoter in colorectal cancer derived cell lines. Anticancer Res. 16: 1733-1737 (1996)

K. Mayer , I. Ansotegui, W. Ballhausen. The human lck cDNA clone YT16 is a transforming oncogene. Anticancer Res. 12: 485-8, (1992)