Download Publikationen in Top-Journalen (Impact > 6.0) in letzten 10 Jahren

Publikationen in Top-Journalen (Impact > 6.0) in letzten 10 Jahren
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Handt, O., M. Richards, M. Trommsdorff, Ch. Kilger, J. Simaneinen, O. Georgiev, K. Bauer,
A. Stone, R. Hedges, W. Schaffner, G. Utermann, B. Sykes, and S. Pääbo. 1994. Molecular
genetic analyses of the Tyrolean Ice Man. Science, 264:1775-1778.
IMPACT
29.1
Tiret L, De Knijff P, Menzel HJ, Ehnholm C, Nicaud V, and Havekes L. The E.A.R.S. group.
1994. Apolipoprotein E polymorphism and predisposition to coronary heart disease in youths
of different European populations. The EARS study. Arteriosclerosis and Thrombosis
14:1617-1624
IMPACT
6.8
Klausen IC, Beisiegel U, Menzel HJ, Rosseneu M, Nicaud V, and Faergeman O. The
E.A.R.S. group. 1994. Apo (a) phenotypes and Lp (a) concentrations in offsprings of men
under 55 years with myocardial infartion. The EARS study. Arteriosclerosis and Thrombosis
15:1001-1008
IMPACT
6.8
Menzel, H.J., H. Dieplinger, C. Sandholzer, I. Karádi, G. Utermann, and A. Császar. 1995.
Apolipoprotein A-IV polymorphism in the Hungarian population: Gene frequencies, effect on
lipid levels, and sequence of two new variants. Hum. Mutation, 5:58-65. IMPACT
6.3
Trommsdorff, M., S. Köchl, A. Lingenhel, F. Kronenberg, R. Delport, H. Vermaak, L.
Lemming, I.Ch. Klausen, O. Faergeman, G. Utermann, and H.G. Kraft. 1995. A
pentanucleotide repeat polymorphism in the 5´ control region of the apolipo-protein(a) gene is
associated with lipoprotein(a) plasma concentrations in Caucasians. J.Clin.Invest. 96:150157.
IMPACT
14.3
Orou, A., B. Fechner, H.J. Menzel, and G. Utermann. 1995. Automatic separation of two
PCRs in one tube by annealing temperature. Trends in Genetics, 11: 127-128.
IMPACT
12.0
Orou, A., B. Fechner, G. Utermann, and H.J. Menzel. 1995. Allele specific competitive
blocker PCR: A one step method with applicability to Pool Screening. Hum.Mutation 6: 163169.
IMPACT
6.3
Klausen 1-C, Beisiegel U, Menzel H-J, Rosseneu M, Nicaud V, Faergeman 0. The EARS
Group. 1995. Apo(a) phenotypes and Lp(a) concentrations in offspring of men with and
without myocardial infarction. The EARS Study. Arteriosclerosis Thrombosis and Vascular
Biology ;15:1001-1008.
IMPACT
6.8
Kraft, H.G., A. Lingenhel, S. Köchl, F. Hoppichler, F. Kronenberg, A. Abe, V. Mühlberger, D.
Schönitzer, G. Utermann. 1996. Apolipoprotein(a) kringle IV repeat number predicts risk for
coronary heart disease. Arterioscl.Thromb.Vasc. Biol., 16:713-119
IMPACT
6.8
Brunner C, Lobentanz EM, Pethö-Schramm A, Ernst A, Kang C, Dieplinger H, Müller HJ,
Utermann G. 1996. The number of identical kringle IV repeats in apolipoprotein(a) affects its
processing and secretion by Hep G2 cells. J.Biol.Chem 271:32403-32410 IMPACT
6.5
Duba, H.Ch., M. Erdel, L. Bereuther, H. Fischer, B. Utermann, and G. Utermann. 1997.
Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy
with multiple malformations: further delineation of the trisomy 1q syndrome. J.Med.Genet.,
34:309-313
IMPACT
6.4
van der Hoek, YY, A. Lingenhel, H.G. Kraft, J.C. Defesche, J.J.P. Kastelein, and G.
Utermann. 1997. Sib-pair linkage analysis detects elevated Lp(a) levels and large variation of
Lp(a) concentration in FDB subjects. J.Clin.Invest 99: 2269-2273
IMPACT
14.3
Köchl, S., F. Fresser, E. Lobentanz, G. Baier, and G. Utermann. 1997. Novel interaction of
apolipoprotein(a) with ß-2 glycoprotein I, mediated by the kringle IV domain. Blood 90: 14821489
IMPACT
10.1
Boer J-M-A, Ehnholm C, Menzel H-J, Havekes L, Rosseneu M, 0´Reilly D, Tiret L. The EARS
Group. 1997. Interactions between lifestyle-related factors and the ApoE polymorphism on
plasma lipids and apolipoproteins - The EARS Study.
Vascular Biology;17:1675-1681.
Arteriosclerosis Thrombosis and
IMPACT
6.8
Kraft, H.G., M. Windegger, H.J. Menzel, and G. Utermann. 1998. Significant impact of the
+93 C/T Polymorphism in the apolipoprotein(a) gene on Lp(a) concentrations in Africans but
not in Caucasians: Confounding effect of linkage disequilibrium. Hum.Mol.Genet., 7:257-264
IMPACT
8.6
Haß, S., Fresser, F., Köchl, S., Beyreuther, K., Utermann, G. and Baier, G., 1998. Physical
interaction of apoE with APP, independent of the amyloid A -region, in vitro. J Biol Chem
273:13892-13897
IMPACT
6.5
Fitzky, B.U., M. Witsch-Baumgartner, M. Erdel, J.N. Lee, Y.K. Paik, H. Glossmann, G.
Utermann, and F. Möbius. 1998. Mutations in the
7-sterol reductase gene in patients with
the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci USA 95:8181-8186. IMPACT
10.2
Krings, M., A.H. Salem, K. Bauer, H. Geisert, A.K. Malek, L. Chaix, Ch. Simon, D. Welsby,
A.Di Rienzo, G. Utermann, A. Sajantila, S. Pääbo, and M. Stoneking. 1999. mtDNA analysis
of nile river valley populations: a genetic corridor or a barrier to migration? Am.J.Hum.Genet.
64:1166-1176
IMPACT
11.6
Ogorelkova M, Gruber A, Utermann G. 1999. Molecular basis of congenital Lp(a) deficiency:
a frequent apo(a) ”null” mutation in Caucasians. Hum.Mol.Genet. 8:2087-2096
IMPACT
8.6
Erdel, M., M. Hubalek, A. Lingenhel, H.Ch.Duba, and G. Utermann. 1999. Counting the
repetitive kringle-IV repeats in the human apolipoprotein(a) gene by fiber-FISH. Nature
Genetics, 21:357-358.
IMPACT
26.5
Gunsilius E, Duba HC, Petzer AL, Kähler CM, Gastl G. 2000. Angiogenesis in chronic
myelogenous leukaemia. Lancet, 9234: 1026-1027
IMPACT
18.3
Gunsilius E, Duba HC, Petzer AL, Kähler CM, Grünewald K, Stockhammer G, Gabl C.
Dirnhofer S, Clausen J, Gastl G. 2000. Evidence from a leukemia model for the maintenance
of the blood vascular endothelium by bone-marrow-derived endothelial cells. Lancet, 9216:
1688-1691
IMPACT
18.3
Klose, R., F. Fresser, S. Köchl, W. Parson, A. Kapetanopoulos, J. Fruchart-Najib, G. Baier,
and G. Utermann. 2000. Mapping of a minimal apolipoprotein(a) interaction motif conserved
in fibrin(ogen) ß- and
- chains. J.Biol.Chem. 275:38206-38212
IMPACT
6.5
Kraft HG, Lingenhel A, Raal FJ, Hohenegger M, Utermann G. 2000. Lipoprotein(a) in
homozygous familial hypercholesterolemia. Arterioscl.Thromb.Vasc.Biol. 20:522-528
IMPACT
6.8
Witsch-Baumgartner, M., B.U. Fitzky, M. Ogorelkova, H.G. Kraft, F.F. Moebius, H.
Glossmann, U. Seedorf, G. Gillessen-Kaesbach, G.F. Hoffmann, P. Clayton, R.I. Kelley, and
G. Utermann. 2000. Mutational spectrum in the
7-sterol reductase gene and genotype-
phenotype correlation in 84 patients with Smith-Lemli-Opitz Syndrome. Am.J.Hum.Genet.,
66:402-412
IMPACT
11.6
Haberlandt, E., J. Löffler,, A. Hirst-Stadlmann, B. Stöckl, W. Judmaier, H. Fischer, P.H. Erian,
T. Müller, G. Utermann, R.J.H. Smith, and A. Janecke. 2001. Split hand/split foot
malformation associated with sensorineural deafness, inner and middle ear malformation,
hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1q21.3. J.Med.Genet. 38:405-409
IMPACT
6.4
Janecke AR, Unsinn K, Kreczy A, Baldissera I, Gassner I, Neu N, Utermann G, Müller T.
2001. Adducted thumb-clubfoot syndrome in sibs of a consanguineous Austrian family. J Med
Genet 38:265-269
IMPACT
6.4
Ogorelkova M, Kraft HG, Ehnholm C, Utermann G. 2001. SNPs in exons of the apo(a)
kringles IV type 6 to 10 domain affect Lp(a) plasma concentrations and have different
frequency spectra in Africans and Caucasians. Hum.Mol.Genet. 10: 815-824
IMPACT
8.6
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR,
van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A,
Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D,
Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. 2001. p63 Gene mutations in eec
syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest
a genotype-phenotype correlation. Am J Hum Genet 69:481-492
IMPACT
11.6
von Brederlow B, Bolz H, Janecke A, La O Cabrera A, Rudolph G, Lorenz B, Schwinger E,
Gal A (2002) Identification and in vitro expression of novel CDH23 mutations of patients with
Usher syndrome type 1D. Hum Mutat 19:268-73.
IMPACT
6.3
Holmer SR, Hengstenberg C, Kraft HG, Mayer B, Poll M, Kurzinger S, Fischer M, Lowel H,
Klein G, Riegger GA, Schunkert H. 2003. Association of polymorphisms of the
apolipoprotein(a) gene with lipoprotein(a) levels and myocardial infarction. Circulation
107:696-701.
IMPACT
11.2
Gunther B, Steiner A, Nekahm-Heis D, Albegger K, Zorowka P, Utermann G, Janecke A.
2003. The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss
from Austria. Hum Mutat 22:180.
IMPACT
6.3
Witsch-Baumgartner M, Gruber M, Kraft HG, Rossi M, Clayton P, Giros M, Haas D, Kelley RI,
Krajewska-Walasek M, Utermann G. 2004.
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. J Med Genet.
41(8):577-84.
IMPACT
6.4
Janecke A, Thompson DA, Utermann G, Becker C, Hübner CA, Schmid E, McHenry CL, Nair
AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg P, Gal A. 2004. Mutations in
RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset
retinal dystrophy. Nat Genetics 36(7):1-5
IMPACT
26.5
Parson W, Kraft HG, Niederstätter H, Lingenhel AW, Köchl S, Fresser F, Utermann G.
2004. A common nonsense mutation in the repetitive Kringle IV-2 domain of human
apolipoprotein(a) results in a truncated protein and low plasma Lp(a). Hum Mutat.
24(6):474-80.
IMPACT
6.3
Thompson DA, Janecke AR, Lange J, Feathers KL, Hubner CA, McHenry CL, Stockton DW,
Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR,
den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E,
Utermann G, Gal A. 2005. Retinal degeneration associated with RDH12 mutations results
from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet.
2005 Nov 3; [Epub ahead of print]
IMPACT
8.6
Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M,
Lechner S, Rossi M, Zschocke J, Utermann G. 2005. Identification of 14 novel mutations in
DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational
spectra in Spain and Italy. Hum Mutat. 2005 Apr;25(4):412.
IMPACT
6.3
Reviewartikel/Editorials
Utermann, G. 1994. The apolipoprotein E connection. Current Biology, 4:362-365.
IMPACT
11.9
Fitzky BU, Glossmann H, Utermann G, Moebius FF. 1999. Molecular genetics of the SmithLemli-Opitz syndrome and postsqualene sterol metabolism. Curr.Opin.Lipidol. 10:123-131
IMPACT
6.9
Utermann G. 1999. Genetic architecture and evolution of the lipoprotein(a) trait.
Curr.Opin.Lipidol. 10:133-141
IMPACT
6.9
Dieplinger H, Utermann G. 1999. The seventh myth of lipoprotein(a): Where and how is it
assembled? Anniversary Issue. Curr.Opin.Lipidol. 10:275-283
IMPACT
6.9
Witsch-Baumgartner M, Löffler J, Utermann G. 2001. Mutations in the Human DHCR7 Gene.
Hum.Mut., 17:172-182
IMPACT
6.3