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1

DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome

E Ciara, MJM Nowaczyk, M Witsch-Baumgartner, E Malunowicz, E Popowska, A Jezela-Stanek, M Piotrowicz, JS Waye, G Utermann, M Krajewska-Walasek

Journal:

Clinical Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 103 KB

english, 2004

2

Estimation of heavy metal sorption in German soils using artificial neural networks

Ihuaku Anagu, Joachim Ingwersen, Jens Utermann, Thilo Streck

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 918 KB

english, 2009

3

mtDNA Analysis of Nile River Valley Populations: A Genetic Corridor or a Barrier to Migration?

Matthias Krings, Abd-el Halim Salem, Karin Bauer, Helga Geisert, Adel K. Malek, Louis Chaix, Christian Simon, Derek Welsby, Anna Di Rienzo, Gerd Utermann, Antti Sajantila, Svante Pääbo, Mark Stoneking

Journal:

The American Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 1.27 MB

english, 1999

4

Longitudinal cohort study on the effectiveness of lipid apheresis treatment to reduce high lipoprotein(a) levels and prevent major adverse coronary events

Jaeger, Beate R, Richter, Yvonne, Nagel, Dorothea, Heigl, Franz, Vogt, Anja, Roeseler, Eberhard, Parhofer, Klaus, Ramlow, Wolfgang, Koch, Michael, Utermann, Gerd, Labarrere, Carlos A, Seidel, Dietrich

Journal:

Nature Clinical Practice Cardiovascular Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 209 KB

english, 2009

5

Pre- and postnatal findings in trisomy 17 mosaicism

Barbara Utermann, Mariluce Riegel, Dru Leistritz, Thomas Karall, Josef Wisser, Lorraine Meisner, Christine Fauth, Rosa Baldinger, Julie Johnson, Martin Erdel, Malgorzata Taralczak, Richard M. Pauli, A

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 202 KB

english, 2006

6

Apolipoprotein A-IV polymorphism in the Hungarian population: Gene frequencies, effect on lipid levels, and sequence of two new variants

H. J. Menzel, H. Dieplinger, C. Sandholzer, I. Karádi, G. Utermann, A. Császár

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 952 KB

english, 1995

7

Mutations in the human DHCR7 gene

Martina Witsch-Baumgartner, Judith Löffler, Gerd Utermann

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 356 KB

english, 2001

8

Tyrosinämie Typ I Klinische und biochemische Symptome bei 3 Säuglingen

J. Crone, W.D. Huber, D. Möslinger, F. Felberbauer, K. Utermann, R. Gratzl, S. Stöckler-Ipsiroglu

Journal:

Monatsschrift Kinderheilkunde

Année:

2000

Langue:

german

Fichier:

PDF, 117 KB

german, 2000

9

Über die Mucopolysaccharid-Ausscheidung im Urin gesunder und arteriosklerotischer Personen

D. Utermann, E. J. Klempien, W. Maass

Journal:

Journal of Molecular Medicine

Année:

1965

Langue:

german

Fichier:

PDF, 429 KB

german, 1965

10

Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency

Hancock, A. M., Witonsky, D. B., Ehler, E., Alkorta-Aranburu, G., Beall, C., Gebremedhin, A., Sukernik, R., Utermann, G., Pritchard, J., Coop, G., Di Rienzo, A.

Journal:

Proceedings of the National Academy of Sciences

Année:

2010

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2010

11

Cyclosporin and serum lipids in renal transplant recipients

Sandholzer, Christoph, Utermann, Gerd, Dieplinger, Hans, Hilbrands, L.B., Demacker, P.N.M., Hoitsma, A.J., Kronenberg, Florian, König, Paul, Lhotta, Karl, Königsrainer, Alfred

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 479 KB

english, 1993

12

Prediction models of long-term Cirrhosis and hepatocellular carcinoma risk in chronic hepatitis B patients: Risk scores integrating host and virus profiles

Lee, Mei-Hsuan, Yang, Hwai-I., Liu, Jessica, Batrla-Utermann, Richard, Jen, Chin-Lan, Iloeje, Uchenna H., Lu, Sheng-Nan, You, San-Lin, Wang, Li-Yu, Chen, Chien-Jen

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 1.78 MB

english, 2013

13

Adaptations to Climate-Mediated Selective Pressures in Humans

Hancock, Angela M., Witonsky, David B., Alkorta-Aranburu, Gorka, Beall, Cynthia M., Gebremedhin, Amha, Sukernik, Rem, Utermann, Gerd, Pritchard, Jonathan K., Coop, Graham, Di Rienzo, Anna, Nachman, Mi

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 2.23 MB

english, 2011

14

Remobilization of sterically stabilized silver nanoparticles from farmland soils determined by column leaching

Hoppe, M., Mikutta, R., Utermann, J., Duijnisveld, W., Kaufhold, S., Stange, C. F., Guggenberger, G.

Journal:

European Journal of Soil Science

Année:

2015

Langue:

english

Fichier:

PDF, 1.28 MB

english, 2015

15

Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7)

L�ffler, Judith, Utermann, Barbara, Duba, Hans C., Mayr, Udo, Utermann, Gerd, Erdel, Martin

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2000

16

Fluorescence in situ hybridization (FISH) on peripheral blood smears for monitoring Philadelphia chromosome-positive chronic myeloid leukemia (CML) during interferon treatment: A new strategy for remission assessment

Josef Mühlmann, Josef Thaler, Wolfgang Hilbe, Oliver Bechter, Martin Erdel, Gerd Utermann, Hans-Christoph Duba

Journal:

Genes, Chromosomes and Cancer

Année:

1998

Langue:

english

Fichier:

PDF, 417 KB

english, 1998

17

Protein kinase Cθ, a selective upstream regulator of JNK/SAPK and IL-2 promoter activation in Jurkat T cells

Nassim Ghaffari-Tabrizi, Birgit Bauer, Andreas Villunger, Gabriele Baier-Bitterlich, Amnon Altman, Gerd Utermann, Florian Überall, Gottfried Baier

Journal:

European Journal of Immunology

Année:

1999

Langue:

english

Fichier:

PDF, 209 KB

english, 1999

18

Homozygosity for the W151X stop mutation in the Δ7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis

Judith Löffler, Alexander Trojovsky, Bettina Casati, Peter M. Kroisel, Gerd Utermann

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 251 KB

english, 2000

19

Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder

Martina Witsch-Baumgartner, Judith Loeffler, Hans-Jürgen Menzel, Gerd Utermann, Cordula Neuhaus

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 42 KB

english, 2001

20

T cell expressed PKCθ demonstrates cell-type selective function

Birgit Bauer, Nina Krumböck, Nassim Ghaffari-Tabrizi, Sonja Kampfer, Andreas Villunger, Monika Wilda, Horst Hameister, Gerd Utermann, Michael Leitges, Florian Überall, Gottfried Baier

Journal:

European Journal of Immunology

Année:

2000

Langue:

english

Fichier:

PDF, 221 KB

english, 2000

21

Novel mutation in the Δ-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome

Marjan M. Nezarati, Judith Loeffler, Grace Yoon, Linda MacLaren, Ernest Fung, Floyd Snyder, Gerd Utermann, Gail E. Graham

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 205 KB

english, 2002

22

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

Judith Loeffler, Elisabeth Soelder, Martin Erdel, Barbara Utermann, Andreas Janecke, Hans-Christoph Duba, Gerd Utermann

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 160 KB

english, 2003

23

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33

Sabine Walter, Klaus Sandig, Georg K. Hinkel, Beate Mitulla, Katrin Ounap, Giles Sims, Mari Sitska, Barbara Utermann, Petra Viertel, Vera Kalscheuer, Oliver Bartsch

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 352 KB

english, 2004

24

Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated

Dieter Kotzot, Gerd Utermann

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 204 KB

english, 2005

25

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

Andreas R. Janecke, Hans Christian Hennies, Barbara Günther, Gabriele Gansl, Josef Smolle, Elisabeth M. Messmer, Gerd Utermann, Olaf Rittinger

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 102 KB

english, 2005

26

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl

Dieter Kotzot, Edda Haberlandt, Christine Fauth, Sara Baumgartner, Sabine Scholl-Bürgi, Gerd Utermann

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 83 KB

english, 2005

27

Yellow teeth, seizures, and mental retardation: A less severe case of Kohlschütter–Tönz syndrome

Edda Haberlandt, Christine Svejda, Stefan Felber, Sara Baumgartner, Barbara Günther, Gerd Utermann, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 156 KB

english, 2006

28

Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman

Martina Höckner, Barbara Utermann, Martin Erdel, Christine Fauth, Gerd Utermann, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 114 KB

english, 2008

29

“Essentially” pure trisomy 3q27 → qter: Further delineation of the partial trisomy 3q phenotype

Vera Grossmann, Doris Müller, Wilfried Müller, Friedrich Fresser, Martin Erdel, Andreas R. Janecke, Johannes Zschocke, Gerd Utermann, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 160 KB

english, 2009

30

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)

Ana Spreiz, Doris Müller, Sibylle Zotter, Ursula Albrecht, Matthias Baumann, Christine Fauth, Martin Erdel, Johannes Zschocke, Gerd Utermann, Dieter Kotzot

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 235 KB

english, 2010

31

Die Reduction des o, p- Dinitrophenyl-piperidins

L. Spiegel, A. Utermann

Journal:

European Journal of Inorganic Chemistry

Année:

1906

Langue:

german

Fichier:

PDF, 409 KB

german, 1906

32

Ein neues Nitrirungsverfahren

Otto N. Witt, Alfred Utermann

Journal:

European Journal of Inorganic Chemistry

Année:

1906

Langue:

german

Fichier:

PDF, 279 KB

german, 1906

33

Farbreaktionen auf ungesättigte Carbonylverbindungen, I. Mitteil.: Azobenzol-hydrazin-sulfonsäure-(4) als Farbreagens

Siegfried Hünig, Jasper Utermann

Journal:

European Journal of Inorganic Chemistry

Année:

1955

Langue:

german

Fichier:

PDF, 361 KB

german, 1955

34

Farbreaktionen auf ungesättigte Carbonylverbindungen, II. Mitteil.: p-Amino-dimethylanilin als Farbreagens

Siegfried Hünig, Jasper Utermann, Gustav Erlemann

Journal:

European Journal of Inorganic Chemistry

Année:

1955

Langue:

german

Fichier:

PDF, 255 KB

german, 1955

35

Farbreaktionen auf ungesättigte Carbonylverbindungen III2)

Siegfried Hünig, Jasper Utermann

Journal:

European Journal of Inorganic Chemistry

Année:

1955

Langue:

german

Fichier:

PDF, 239 KB

german, 1955

36

Farbreaktionen auf ungesättigte Carbonylverbindungen, IV. Mitteil.: Die Konstitution der farbigen Anilsalze

Siegfried Hünig, Jasper Utermann

Journal:

European Journal of Inorganic Chemistry

Année:

1955

Langue:

german

Fichier:

PDF, 416 KB

german, 1955

37

Apolipoprotein E phenotyping from serum by Western blotting

Dr. Hans-Jürgen Menzel, Gerd Utermann

Journal:

ELECTROPHORESIS

Année:

1986

Langue:

english

Fichier:

PDF, 490 KB

english, 1986

38

Allele-specific competitive blocker PCR: A one-step method with applicability to pool screening

Andreas Orou, Birgit Fechner, Gerd Utermann, Hans-Jürgen Menzel

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 609 KB

english, 1995

39

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)

Walther Parson, Hans Georg Kraft, Harald Niederstätter, Arnulf W. Lingenhel, Silvano Köchl, Friedrich Fresser, Gerd Utermann

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 174 KB

english, 2004

40

Sample selection algorithm to improve quality of genotyping from plasma-derived DNA: to separate the wheat from the chaff

Veit Schoenborn, Henning Gohlke, Iris M. Heid, Thomas Illig, Gerd Utermann, Florian Kronenberg

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 360 KB

english, 2007

41

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria

Barbara Günther, Andrea Steiner, Doris Nekahm-Heis, Klaus Albegger, Patrick Zorowka, Gerd Utermann, Andreas Janecke

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 26 KB

english, 2003

42

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing

Christian A. Hübner, Barbara Utermann, Sigrid Tinschert, Gabriele Krüger, Bernadette Ressler, Cordula Steglich, Albert Schinzel, Andreas Gal

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 36 KB

english, 2004

43

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy

M. Witsch-Baumgartner, P. Clayton, N. Clusellas, D. Haas, R.I. Kelley, M. Krajewska-Walasek, S. Lechner, M. Rossi, J. Zschocke, G. Utermann

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 70 KB

english, 2005

44

Diffusion-weighted imaging in Huntington's disease

Klaus Seppi, Michael F.H. Schocke, Katherina J. Mair, Regina Esterhammer, Helga Weirich-Schwaiger, Barbara Utermann, Karl Egger, Christian Brenneis, Roberta Granata, Sylvia Boesch, Werner Poewe, Grego

Journal:

Movement Disorders

Année:

2006

Langue:

english

Fichier:

PDF, 138 KB

english, 2006

45

Tunnel splittings and chaotic transport in periodically driven bistable systems

P. Ha¨nggi, R. Utermann, T. Dittrich

Journal:

Physica B: Condensed Matter

Année:

1994

Langue:

english

Fichier:

PDF, 273 KB

english, 1994

46

Geometric Scaling at RHIC and LHC

Daniël Boer, Andre Utermann, Erik Wessels

Journal:

Nuclear Physics B - Proceedings Supplements

Année:

2009

Langue:

english

Fichier:

PDF, 339 KB

english, 2009

47

The saturation scale and its x-dependence from Λ polarization studies

Daniël Boer, Andre Utermann, Erik Wessels

Journal:

Physics Letters B

Année:

2009

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2009

48

Application of tris-allyl-DOTA in the preparation of DOTA–peptide conjugates

Björn Wängler, Carmen Beck, Ulrike Wagner-Utermann, Esther Schirrmacher, Claudia Bauer, Frank Rösch, Ralf Schirrmacher, Michael Eisenhut

Journal:

Tetrahedron Letters

Année:

2006

Langue:

english

Fichier:

PDF, 140 KB

english, 2006

49

QCD instantons and high-energy diffractive scattering

F. Schrempp, A. Utermann

Journal:

Physics Letters B

Année:

2002

Langue:

english

Fichier:

PDF, 163 KB

english, 2002

50

Non-human immunodeficiency virus Kaposi's sarcoma can be effectively treated with low-dose interferon-α despite the persistence of herpesvirus-8

Deichmann, Thome, JÄckel, Utermann, Bock, Waldmann, NÄher

Journal:

British Journal of Dermatology

Année:

1998

Langue:

english

Fichier:

PDF, 96 KB

english, 1998