Publications by authors named "Gerd Utermann"

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A comprehensive map of single-base polymorphisms in the hypervariable kringle IV type 2 copy number variation region.
Stefan Coassin, Sebastian Schönherr, Hansi Weissensteiner, Gertraud Erhart, Lukas Forer, Gerd Utermann

J Lipid Res· January 2019

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Significant differentiation in the apolipoprotein(a)/lipoprotein(a) trait between chimpanzees from Western and Central Africa.
Asma Noureen, Claudius Ronke, Mahmoud Khalifa, Michel Halbwax, Anne Fischer, Gerd Utermann

Am J Primatol· September 2017

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A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction.
Stefan Coassin, Gertraud Erhart, Hansi Weissensteiner, Mariana Eca Guimarães de Araújo, Claudia Lamina, Gerd Utermann

Eur Heart J· June 2017

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Structure, function, and genetics of lipoprotein (a).
Konrad Schmidt, Asma Noureen, Florian Kronenberg, Gerd Utermann

J Lipid Res· August 2016

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Sequence variation within the KIV-2 copy number polymorphism of the human LPA gene in African, Asian, and European populations.
Asma Noureen, Friedrich Fresser, Gerd Utermann, Konrad Schmidt

PLoS One· April 2016

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Lack of association of rs3798220 with small apolipoprotein(a) isoforms and high lipoprotein(a) levels in East and Southeast Asians.
Mahmoud Khalifa, Asma Noureen, Kathrin Ertelthalner, Ahmad Reza Bandegi, Rhena Delport, Gerd Utermann

Atherosclerosis· October 2015

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X-linked MTMR8 diversity and evolutionary history of sub-Saharan populations.
Damian Labuda, Vania Yotova, Jean-François Lefebvre, Claudia Moreau, Gerd Utermann

PLoS One· August 2014

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Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
Anne Frühmesser, Jonathon Blake, Edda Haberlandt, Bianka Baying, Benjamin Raeder, Gerd Utermann

Eur J Hum Genet· October 2013

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Single-nucleotide polymorphism array-based characterization of ring chromosome 18.
Ana Spreiz, Roberta S Guilherme, Claudio Castellan, Andrew Green, Olaf Rittinger, Barbara Utermann, Gerd Utermann

J Pediatr· October 2013

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Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.
Anne Frühmesser, Martin Erdel, Hans-Christoph Duba, Christine Fauth, Albert Amberger, Gerd Utermann

Eur J Med Genet· July 2013

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Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.
Anne Frühmesser, Edda Haberlandt, Werner Judmaier, Albert Schinzel, Barbara Utermann, Gerd Utermann

Am J Med Genet A· September 2012

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Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.
Peter Clayton, Björn Fischer, Anuska Mann, Sahar Mansour, Eva Rossier, Gerd Utermann

Nucleus· July 2012

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TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Lijia Huang, Katarzyna Szymanska, Victor L Jensen, Andreas R Janecke, A Micheil Innes, Gerd Utermann

Am J Hum Genet· December 2011

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Adaptations to climate-mediated selective pressures in humans.
Angela M Hancock, David B Witonsky, Gorka Alkorta-Aranburu, Cynthia M Beall, Amha Gebremedhin, Gerd Utermann

PLoS Genet· April 2011

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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, Gerd Utermann

Am J Med Genet A· November 2010

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Parental origin and mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)/45,X karyotype in a woman with mild Turner syndrome.
Franz Binkert, Ana Spreiz, Martina Höckner, Peter Miny, Brigitte von Dach Leu, Gerd Utermann

Fertil Steril· June 2010

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Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
Frank M Ruemmele, Thomas Müller, Natalia Schiefermeier, Hannes L Ebner, Silvia Lechner, Gerd Utermann

Hum Mutat· May 2010

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Colloquium paper: human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency.
Angela M Hancock, David B Witonsky, Edvard Ehler, Gorka Alkorta-Aranburu, Cynthia Beall, Gerd Utermann

Proc Natl Acad Sci U S A· May 2010

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Refinement of the GINGF3 locus for hereditary gingival fibromatosis.
Michael Pampel, Sandra Maier, Alfons Kreczy, Helga Weirich-Schwaiger, Gerd Utermann

Eur J Pediatr· March 2010

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Genetic variants in Lp(a) lipoprotein and coronary disease.
Hans G Kraft, Florian Kronenberg, Gerd Utermann

N Engl J Med· March 2010

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Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.
Munis Dündar, Thomas Müller, Qi Zhang, Jing Pan, Beat Steinmann, Gerd Utermann

Am J Hum Genet· December 2009

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"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.
Vera Grossmann, Doris Müller, Wilfried Müller, Friedrich Fresser, Martin Erdel, Gerd Utermann

Am J Med Genet A· November 2009

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Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
Gabriel Miltenberger-Miltenyi, Thomas Schwarzbraun, Wolfgang N Löscher, Julia Wanschitz, Christian Windpassinger, Gerd Utermann

Eur J Hum Genet· September 2009

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Longitudinal cohort study on the effectiveness of lipid apheresis treatment to reduce high lipoprotein(a) levels and prevent major adverse coronary events.
Beate R Jaeger, Yvonne Richter, Dorothea Nagel, Franz Heigl, Anja Vogt, Gerd Utermann

Nat Clin Pract Cardiovasc Med· March 2009

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Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Peter Heinz-Erian, Thomas Müller, Birgit Krabichler, Melanie Schranz, Christian Becker, Gerd Utermann

Am J Hum Genet· February 2009

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