Publications by authors named "Harald Gaspar"

17Publications

4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood.

Am J Med Genet A 2017 Aug 25;173(8):2289-2292. Epub 2017 May 25.

Institute of Human Genetics, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38286DOI Listing
August 2017

Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion.

Neurology 2015 Apr 20;84(15):1605-6. Epub 2015 Mar 20.

From the Institute of Human Genetics (N.H., A.B., J.F., H.G.), University Medical Center Freiburg (S.H., J.L.); the Institute of Human Genetics (K.E., S.R.-S.), RWTH University Hospital Aachen; the Institut für Humangenetik (A.B.), Universität zu Lübeck; and the Institute of Human Genetics (H.G.), University Hospital Ulm, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000001470DOI Listing
April 2015

Mirror movements identified in patients with moebius syndrome.

Tremor Other Hyperkinet Mov (N Y) 2014 22;4:256. Epub 2014 Jul 22.

Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.7916/D83F4MR8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4107286PMC
August 2014

Hepatoblastoma in two siblings and familial adenomatous polyposis: causal nexus or coincidence?

Fam Cancer 2012 Sep;11(3):529-33

Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 366, 69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10689-012-9538-2DOI Listing
September 2012

The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors.

Mod Pathol 2012 Jun 2;25(6):911-6. Epub 2012 Mar 2.

Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1038/modpathol.2012.30DOI Listing
June 2012

Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.

Biochem Biophys Res Commun 2012 Feb 30;418(4):830-5. Epub 2012 Jan 30.

Department of Cardiology, University of Heidelberg, Im Neuenheimer Feld 410, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.bbrc.2012.01.118DOI Listing
February 2012

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.

Hum Mutat 2011 Jul;32(7):815-24

University of Zurich, Institute of Medical Molecular Genetics, Schorenstrasse 16, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1002/humu.21509DOI Listing
July 2011