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.

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. Molecular genetic analysis of connective tissue disorders. 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, B. Vaismann, D. Seidel,  H.B. Brewer Jr.,  S. Santamarina-Fojo. Transgenic mice expressing human lecithin-cholesterol acyltransferase (LCAT). Atherosclerosis 115:S18, 1995.

C. Detter, H. Mair, H.-G. Klein, U. Grau, C. Georgescu, A. Welz, E. Kreuzer, B. Reichart. Erste Ergebnisse molekulargenetischer Untersuchungen beim Marfan-Syndrom. Z. Kardiologie 85:8, 1996.

U. Grau, H. Mair, C. Detter, D. Seidel, B. Reichart, H.-G. Klein. Molecular basis of the Marfan     Syndrome: Identification of molecular defects in the fibrillin 1 gene (FBN1) by SSCP and direct     PCR-sequence analysis. Eur. J. Pediatr. 155:725-750, 1996.

S. Geisler, S. Nikol, B. Kleih, B. Höfling, D. Seidel, H.-G. Klein. Prevalence of apo E genotypes and lp(a) isoforms in patients with restenosis after percutaneous transluminal coronary angioplasty. 66th Congress of the European Atherosclerosis Society, Lorenzini Foundation Symposium 252:82, 1996.

B. Kleih, H.-G. Klein, N. Haubst, J. Thiery, D. Seidel. Polymorphisms of the 5´-flanking region of the apo(a) gene: Association with apo(a) expression and coronary artery disease. 66th Congress of the European Atherosclerosis Society, Lorenzini Foundation Symposium 252:84, 1996.

H.-G. Klein, M. Bares, N. Haubst, S. Marcovina, D. Seidel. Characterization of functional domains of lecithin-cholesterol acyltransferase (LCAT) by site-directed mutagenesis and in vitro expression. 66th Congress of the European Atherosclerosis Society, Lorenzini Foundation Symposium 252:41, 1996.

H.-G. Klein, U. Grau, H. Mair, C. Detter, A. Welz, B. Reichart, D. Seidel. Kardiovaskuläre Manisfestationen des Marfan-Syndroms. Deutsches Ärzteblatt 93:A3197-3198, 1996

R. Kozlik-Feldmann, H.-G. Klein, U. Römer, A.K. Walli, H. Netz, B. Reichart. Analysis of differential gene expression in heart muscle biopsies by RT-PCR. Congress of Molecular Medicine, Berlin, 3. - 5. Mai 1997.

H.-G. Klein, P. Lohse, H. Diem. DNA Translocations in Leukemia. Eur. J. Clin. Chem. Clin. Biochem. 35:A30, 1997

H.-G. Klein, B. Kleih, A.K. Walli, D. Seidel. Studies of the 5´-region of the apolipoprotein(a) gene in HepG2 cells by luciferase reporter gene assays. Atherosclerosis 134:143, 1997.

H.-G. Klein, P.V. Subbaiah, M. Bares, R. Bittlingmaier, K. Wang, S.M. Marcovina, D. Seidel.     Studies on substrate specificity of lecithin-cholesterol acyltransferase (LCAT) using site-directed mutagenesis and in vitro-expression. Circulation 96:I-229, 1997.

A. Burger-Kentischer, E. Müller, H.-G. Klein, A. Schober, W. Neuhofer, K. Thurau, F.X. Beck. Expression and localisation of a cationic amino acid transporter mRNA in rat kidney and liver. Eur. J. Physiol. 435 :R143, 1998.

U. Grau, A. Welz, H.-G. Klein. Molekulare Grundlagen des Marfan-Syndroms. 30. Jahrestagung der Deutschen Gesellschaft für Pädriatische Kardiologie, München, 1998.

U. Grau, H.-G. Klein, A. Welz, B. Reichart, D. Seidel. A Premature Stopp codon mutation in the fibrillin (FBN) 1 gene is associated with Marfan Syndrome. Med. Gen. 10:160, 1998.

J.R. Bogner, B. Lutz, H.-G. Klein, U. troendle, F.D. Goebel. Chemokine receptor/ligand genotype predicts viral load outcome of HAART. Eingericht für CONVIR Konferenz, München, Mai 2002.

M. Hulpke-Wette, R. Buchhorn, H.-G. Klein, C. Marschall, J. Nothroff, W. Ruschewski, A. Wessel. Neonatales Marfan Syndrom: Ein Fallbericht und eine Übersicht über die bisher publizierten Fälle. Zeitschrift für Kardiologie 91(9):S754, 2002