Publications by authors named "Bernhard Horsthemke"

100Publications

wg-blimp: an end-to-end analysis pipeline for whole genome bisulfite sequencing data.

BMC Bioinformatics 2020 May 1;21(1):169. Epub 2020 May 1.

Institute of Human Genetics, University of Duisburg-Essen, University Hospital Essen, Hufelandstraße 55, Essen, 45147, Germany.

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http://dx.doi.org/10.1186/s12859-020-3470-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195798PMC
May 2020

Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15.

Eur J Hum Genet 2020 06 9;28(6):835-839. Epub 2020 Mar 9.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.1038/s41431-020-0595-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253442PMC
June 2020

A human somatic cell culture system for modelling gene silencing by transcriptional interference.

Heliyon 2020 Jan 29;6(1):e03261. Epub 2020 Jan 29.

Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Hufelandstr 55, 45147 Essen, Germany.

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http://dx.doi.org/10.1016/j.heliyon.2020.e03261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994850PMC
January 2020

In vitro postovulatory oocyte aging affects H3K9 trimethylation in two-cell embryos after IVF.

Ann Anat 2020 Jan 11;227:151424. Epub 2019 Oct 11.

Institute of Anatomy, University Hospital Essen, University Duisburg-Essen, Essen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.aanat.2019.151424DOI Listing
January 2020

The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.

Epigenetics 2018 19;13(8):822-828. Epub 2018 Sep 19.

a Institut für Humangenetik , Universitätsklinikum Essen, Universität Duisburg-Essen , Essen , Germany.

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http://dx.doi.org/10.1080/15592294.2018.1514233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224218PMC
March 2019

A critical view on transgenerational epigenetic inheritance in humans.

Nat Commun 2018 07 30;9(1):2973. Epub 2018 Jul 30.

Institut für Humangenetik, Universitätsklinikum Essen and Universität Duisburg-Essen, 45147, Essen, Germany.

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http://www.nature.com/articles/s41467-018-05445-5
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http://dx.doi.org/10.1038/s41467-018-05445-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6065375PMC
July 2018

Locus-Specific DNA Methylation Analysis by Targeted Deep Bisulfite Sequencing.

Methods Mol Biol 2018 ;1767:351-366

Institute of Human Genetics, University of Duisburg-Essen, University Hospital Essen, Essen, Germany.

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http://dx.doi.org/10.1007/978-1-4939-7774-1_19DOI Listing
February 2019

[Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome].

Orv Hetil 2018 Jan;159(2):64-69

II. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Tűzoltó u. 7-9., 1094.

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http://dx.doi.org/10.1556/650.2018.30918DOI Listing
January 2018

Angelman syndrome - insights into a rare neurogenetic disorder.

Nat Rev Neurol 2016 10 12;12(10):584-93. Epub 2016 Sep 12.

Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Hufelandstrasse 55, D-45122 Essen, Germany.

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http://dx.doi.org/10.1038/nrneurol.2016.133DOI Listing
October 2016

Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment.

Epigenetics 2016 03 18;11(3):216-26. Epub 2016 Feb 18.

a Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen , Essen , Germany.

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http://dx.doi.org/10.1080/15592294.2016.1145330DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854546PMC
March 2016

Altering TET dioxygenase levels within physiological range affects DNA methylation dynamics of HEK293 cells.

Epigenetics 2015 17;10(9):819-33. Epub 2015 Jul 17.

a Institute of Human Genetics; University Hospital Essen; University Duisburg-Essen ; Essen , Germany.

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http://www.tandfonline.com/doi/full/10.1080/15592294.2015.10
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http://dx.doi.org/10.1080/15592294.2015.1073879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4622922PMC
June 2016

N6-adenosine methylation in MiRNAs.

PLoS One 2015 27;10(2):e0118438. Epub 2015 Feb 27.

Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0118438PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4344304PMC
November 2015

Classification and visualization based on derived image features: application to genetic syndromes.

PLoS One 2014 18;9(11):e109033. Epub 2014 Nov 18.

Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0109033PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236018PMC
July 2015

Epigenetic germline mosaicism in infertile men.

Hum Mol Genet 2015 Mar 21;24(5):1295-304. Epub 2014 Oct 21.

Centre of Reproductive Medicine and Andrology, University of Muenster, 48149 Muenster, Germany

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http://dx.doi.org/10.1093/hmg/ddu540DOI Listing
March 2015

Clinical utility gene card for: Prader-Willi Syndrome.

Eur J Hum Genet 2014 Sep 16;22(9). Epub 2014 Apr 16.

Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135421PMC
September 2014

A familial disorder of altered DNA-methylation.

J Med Genet 2014 Jun 10;51(6):407-12. Epub 2014 Apr 10.

Institute of Human Genetics, University Hospital Schleswig-Holstein Campus Kiel/Christian-Albrechts University Kiel, Kiel, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2013-102149DOI Listing
June 2014

Clinical phenotypes of MAGEL2 mutations and deletions.

Orphanet J Rare Dis 2014 Mar 25;9:40. Epub 2014 Mar 25.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.1186/1750-1172-9-40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987887PMC
March 2014

Methylation analysis of SST and SSTR4 promoters in the neocortex of Alzheimer's disease patients.

Neurosci Lett 2014 Apr 3;566:241-6. Epub 2014 Mar 3.

Institute of Neuropathology, Faculty of Medicine, University Duisburg-Essen, Hufelandstraße 55, 45122 Essen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neulet.2014.02.046DOI Listing
April 2014

The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.

Genome Biol Evol 2014 Feb;6(2):344-51

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany.

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http://dx.doi.org/10.1093/gbe/evu019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3942032PMC
February 2014

Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms.

Cell 2014 Jan;156(1-2):343-58

Chair of Nutritional Medicine, Technische Universität München, Else Kröner-Fresenius-Center for Nutritional Medicine, 85350 Freising-Weihenstephan, Germany; Nutritional Medicine Unit, ZIEL-Research Center for Nutrition and Food Sciences, Technische Universität München, 85350 Freising-Weihenstephan, Germany; German Center for Diabetes Research (DZD), 85764 Neuherberg, Germany; Clinical Cooperation Group Nutrigenomics and Type 2 Diabetes, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany and Technische Universität München, 85350 Freising-Weihenstephan, Germany; Institute of Experimental Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany. Electronic address:

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http://www.cell.com/cms/attachment/2021778258/2041667086/mmc
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http://linkinghub.elsevier.com/retrieve/pii/S009286741301535
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http://dx.doi.org/10.1016/j.cell.2013.10.058DOI Listing
January 2014

In brief: genomic imprinting and imprinting diseases.

J Pathol 2014 Apr 29;232(5):485-7. Epub 2014 Jan 29.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Germany.

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http://dx.doi.org/10.1002/path.4326DOI Listing
April 2014

The origin of the RB1 imprint.

PLoS One 2013 25;8(11):e81502. Epub 2013 Nov 25.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0081502PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839921PMC
August 2014

Human PPP1R26P1 functions as cis-repressive element in mouse Rb1.

PLoS One 2013 3;8(9):e74159. Epub 2013 Sep 3.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0074159PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3760807PMC
May 2014

FTO levels affect RNA modification and the transcriptome.

Eur J Hum Genet 2013 Mar 8;21(3):317-23. Epub 2012 Aug 8.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://www.nature.com/articles/ejhg2012168
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http://dx.doi.org/10.1038/ejhg.2012.168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573201PMC
March 2013

The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein.

Hum Mol Genet 2012 Sep 13;21(18):4038-48. Epub 2012 Jun 13.

Institut für Humangenetik, Universitätsklinikum Essen, D-45122 Essen, Germany.

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http://dx.doi.org/10.1093/hmg/dds228DOI Listing
September 2012

Waddington's epigenetic landscape and post-Darwinian biology.

Bioessays 2012 Aug 10;34(8):711-2. Epub 2012 Apr 10.

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http://dx.doi.org/10.1002/bies.201200038DOI Listing
August 2012

EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation.

BMC Cancer 2011 Aug 26;11:380. Epub 2011 Aug 26.

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstr, 55, 45157 Essen, Germany.

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http://dx.doi.org/10.1186/1471-2407-11-380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175225PMC
August 2011

Automated syndrome detection in a set of clinical facial photographs.

Am J Med Genet A 2011 Sep 3;155A(9):2161-9. Epub 2011 Aug 3.

Institut für Humangenetik, Universitaetsklinikum Essen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34157DOI Listing
September 2011

Hormone-induced delayed ovulation affects early embryonic development.

Fertil Steril 2011 Jun 6;95(7):2390-4. Epub 2011 Apr 6.

Institute of Molecular Biology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S001502821100431
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http://dx.doi.org/10.1016/j.fertnstert.2011.03.022DOI Listing
June 2011

Genetic aspects of familial Ménière's disease.

Otol Neurotol 2011 Jun;32(4):695-700

Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Essen, University Duisburg-Essen, Germany.

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http://dx.doi.org/10.1097/MAO.0b013e318216074aDOI Listing
June 2011

Aging of Xenopus tropicalis eggs leads to deadenylation of a specific set of maternal mRNAs and loss of developmental potential.

PLoS One 2010 Oct 22;5(10):e13532. Epub 2010 Oct 22.

Institut für Zellbiologie (Tumorforschung), Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0013532PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2962626PMC
October 2010

Parental origin and functional relevance of a de novo UBE3A variant.

Eur J Med Genet 2011 Jan-Feb;54(1):19-24. Epub 2010 Oct 8.

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, D-45147 Essen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2010.09.005DOI Listing
June 2011

Mechanisms of imprint dysregulation.

Am J Med Genet C Semin Med Genet 2010 Aug;154C(3):321-8

University of Duisburg-Essen, Essen, Germany.

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http://doi.wiley.com/10.1002/ajmg.c.30269
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http://dx.doi.org/10.1002/ajmg.c.30269DOI Listing
August 2010

Imprinting of RB1 (the new kid on the block).

Brief Funct Genomics 2010 Jul 15;9(4):347-53. Epub 2010 Jun 15.

Institut für Humangenetik, D-45122 Essen, Germany.

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https://academic.oup.com/bfg/article-lookup/doi/10.1093/bfgp
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http://dx.doi.org/10.1093/bfgp/elq014DOI Listing
July 2010

The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels.

Eur J Hum Genet 2010 Sep 26;18(9):1054-6. Epub 2010 May 26.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://www.nature.com/articles/ejhg201071
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http://dx.doi.org/10.1038/ejhg.2010.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987405PMC
September 2010

The human retinoblastoma gene is imprinted.

PLoS Genet 2009 Dec 24;5(12):e1000790. Epub 2009 Dec 24.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://dx.plos.org/10.1371/journal.pgen.1000790
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http://dx.doi.org/10.1371/journal.pgen.1000790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2791201PMC
December 2009

The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection.

Neurogenetics 2010 May 19;11(2):153-61. Epub 2009 Dec 19.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://link.springer.com/10.1007/s10048-009-0231-z
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http://dx.doi.org/10.1007/s10048-009-0231-zDOI Listing
May 2010

Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis.

Eur J Hum Genet 2009 Nov 27;17(11):1463-70. Epub 2009 May 27.

Institut für Humangenetik, Universitätsklinikum Essen, Germany.

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http://dx.doi.org/10.1038/ejhg.2009.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986690PMC
November 2009

Of wolves and men: the role of paternal child care in the evolution of genomic imprinting.

Eur J Hum Genet 2009 Mar 26;17(3):273-4. Epub 2008 Nov 26.

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, D-45122 Essen, Germany.

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http://www.nature.com/articles/ejhg2008211
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http://dx.doi.org/10.1038/ejhg.2008.211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986180PMC
March 2009

Low frequency of imprinting defects in ICSI children born small for gestational age.

Eur J Hum Genet 2009 Jan 22;17(1):22-9. Epub 2008 Oct 22.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://www.nature.com/articles/ejhg2008177
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http://dx.doi.org/10.1038/ejhg.2008.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2985955PMC
January 2009

Mechanisms of imprinting of the Prader-Willi/Angelman region.

Am J Med Genet A 2008 Aug;146A(16):2041-52

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://doi.wiley.com/10.1002/ajmg.a.32364
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http://dx.doi.org/10.1002/ajmg.a.32364DOI Listing
August 2008

Genomic imprinting and imprinting defects in humans.

Adv Genet 2008 ;61:225-46

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany.

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http://dx.doi.org/10.1016/S0065-2660(07)00008-9DOI Listing
November 2008

IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.

Eur J Hum Genet 2008 Mar 9;16(3):328-34. Epub 2008 Jan 9.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://dx.doi.org/10.1038/sj.ejhg.5201974DOI Listing
March 2008

Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces.

Eur J Med Genet 2008 Jan-Feb;51(1):44-53. Epub 2007 Oct 12.

Institut für Humangenetik, Universität Duisburg-Essen, Hufelandstrasse 55, 45122 Essen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2007.10.002DOI Listing
June 2008

Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nuclei.

Differentiation 2008 Jan 26;76(1):66-82. Epub 2007 Nov 26.

Kirchhoff Institute of Physics, University of Heidelberg, Im Neuenheimer Feld 227, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1111/j.1432-0436.2007.00237.xDOI Listing
January 2008

Rhythm is not enough.

Nat Genet 2007 Oct;39(10):1190-1

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http://www.nature.com/articles/ng1007-1190
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http://dx.doi.org/10.1038/ng1007-1190DOI Listing
October 2007

Maintenance of imprinting and nuclear architecture in cycling cells.

Proc Natl Acad Sci U S A 2007 Sep 11;104(38):14970-5. Epub 2007 Sep 11.

Department of Biology II, Ludwig Maximilians University, Grosshadernerstrasse 2, 82152 Planegg-Martinsried, Germany.

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http://dx.doi.org/10.1073/pnas.0704285104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1986597PMC
September 2007

Heritable germline epimutations in humans.

Nat Genet 2007 May;39(5):573-4; author reply 575-6

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http://dx.doi.org/10.1038/ng0507-573bDOI Listing
May 2007

C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain.

Genomics 2007 May 6;89(5):588-95. Epub 2007 Mar 6.

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S088875430600370
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http://dx.doi.org/10.1016/j.ygeno.2006.12.008DOI Listing
May 2007

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome.

Hum Genet 2007 May 13;121(3-4):369-76. Epub 2007 Feb 13.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany.

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http://link.springer.com/10.1007/s00439-007-0336-0
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http://dx.doi.org/10.1007/s00439-007-0336-0DOI Listing
May 2007

Syndrome identification based on 2D analysis software.

Eur J Hum Genet 2006 Oct 14;14(10):1082-9. Epub 2006 Jun 14.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://www.nature.com/articles/5201673
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http://dx.doi.org/10.1038/sj.ejhg.5201673DOI Listing
October 2006

Assisted reproduction: the epigenetic perspective.

Hum Reprod Update 2005 Sep-Oct;11(5):473-82. Epub 2005 Jul 1.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://dx.doi.org/10.1093/humupd/dmi022DOI Listing
November 2005

Loss of heterozygosity of 1p in uveal melanomas with monosomy 3.

Int J Cancer 2005 Oct;116(6):909-13

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://doi.wiley.com/10.1002/ijc.21086
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http://dx.doi.org/10.1002/ijc.21086DOI Listing
October 2005

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome.

Eur J Hum Genet 2005 Mar;13(3):273-7

Institute of Medical Genetics, University of Zurich, Switzerland.

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http://dx.doi.org/10.1038/sj.ejhg.5201337DOI Listing
March 2005

Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome.

Hum Genet 2005 Feb 23;116(3):228-30. Epub 2004 Nov 23.

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstrasse 55, 45122, Essen, Germany.

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http://dx.doi.org/10.1007/s00439-004-1219-2DOI Listing
February 2005

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.

Hum Mol Genet 2004 Nov 22;13(21):2547-55. Epub 2004 Sep 22.

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandtrasse 55, G-45122 Essen, Germany.

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http://academic.oup.com/hmg/article/13/21/2547/587503/Somati
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http://dx.doi.org/10.1093/hmg/ddh296DOI Listing
November 2004

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome.

Hum Genet 2004 May 10;114(6):553-61. Epub 2004 Mar 10.

Institut für Humangenetik, Universitaetsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany.

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http://dx.doi.org/10.1007/s00439-004-1104-zDOI Listing
May 2004

Computer-based recognition of dysmorphic faces.

Eur J Hum Genet 2003 Aug;11(8):555-60

Institut für Neuroinformatik, Ruhr-Universität Bochum, Germany.

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http://dx.doi.org/10.1038/sj.ejhg.5200997DOI Listing
August 2003