Publications by authors named "Elisabeth Mangold"

100Publications

Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms.

Genet Epidemiol 2020 Jul 24. Epub 2020 Jul 24.

Medical Research Council Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, Bristol, UK.

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http://dx.doi.org/10.1002/gepi.22343DOI Listing
July 2020

deficiency interacts with hypoxia and induces a morphogenetic regulation during mouse lip development.

Development 2020 Jun 24;147(21). Epub 2020 Jun 24.

Biosciences Institute, Newcastle University, International Centre for Life, Newcastle upon Tyne NE1 3BZ, UK

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http://dx.doi.org/10.1242/dev.189175DOI Listing
June 2020

Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.

Am J Med Genet A 2019 11 1;179(11):2252-2256. Epub 2019 Aug 1.

Institute of Human Genetics, University Hospital, Technical University of Aachen, Aachen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61314DOI Listing
November 2019

Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.

Neuropediatrics 2019 12 18;50(6):378-381. Epub 2019 Jul 18.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1055/s-0039-1693143DOI Listing
December 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 12 5;21(12):2807-2814. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892739PMC
December 2019

p63 establishes epithelial enhancers at critical craniofacial development genes.

Sci Adv 2019 05 1;5(5):eaaw0946. Epub 2019 May 1.

Departments of Cell and Developmental Biology and Epigenetics Institute, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1126/sciadv.aaw0946DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6494499PMC
May 2019

Congenital diaphragmatic hernia in a case of Cat eye syndrome.

Clin Case Rep 2018 Sep 23;6(9):1786-1790. Epub 2018 Jul 23.

Department of Neonatology University Medicine Mannheim University of Heidelberg Mannheim Germany.

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http://dx.doi.org/10.1002/ccr3.1646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132134PMC
September 2018

Further evidence for genetic variation at the serotonin transporter gene SLC6A4 contributing toward anxiety.

Psychiatr Genet 2017 06;27(3):96-102

aInstitute of Human Genetics bDepartment of Genomics, Life and Brain Center cClinic for Psychosomatic Medicine and Psychotherapy, University of Bonn, Bonn dDepartment of Psychotherapy and Psychosomatic Medicine, University Hospital Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany eDepartment of Psychiatry (UPK) fHuman Genomics Research Group, Department of Biomedicine, University of Basel gInstitute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.

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http://dx.doi.org/10.1097/YPG.0000000000000171DOI Listing
June 2017

Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

Nat Commun 2017 02 24;8:14364. Epub 2017 Feb 24.

The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University, Wuhan, Hubei 430079, China.

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http://dx.doi.org/10.1038/ncomms14364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5333091PMC
February 2017

Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study.

Invest Ophthalmol Vis Sci 2015 Dec;56(13):8179-86

Department of Ophthalmology, University of Bonn, Bonn, Germany 2Center for Rare Diseases Bonn (ZSEB), University Hospital of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1167/iovs.15-17629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110240PMC
December 2015

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.

Authors:
Lavinia Paternoster Marie Standl Johannes Waage Hansjörg Baurecht Melanie Hotze David P Strachan John A Curtin Klaus Bønnelykke Chao Tian Atsushi Takahashi Jorge Esparza-Gordillo Alexessander Couto Alves Jacob P Thyssen Herman T den Dekker Manuel A Ferreira Elisabeth Altmaier Patrick Ma Sleiman Feng Li Xiao Juan R Gonzalez Ingo Marenholz Birgit Kalb Maria Pino Yanes Cheng-Jian Xu Lisbeth Carstensen Maria M Groen-Blokhuis Cristina Venturini Craig E Pennell Sheila J Barton Albert M Levin Ivan Curjuric Mariona Bustamante Eskil Kreiner-Møller Gabrielle A Lockett Jonas Bacelis Supinda Bunyavanich Rachel A Myers Anja Matanovic Ashish Kumar Joyce Y Tung Tomomitsu Hirota Michiaki Kubo Wendy L McArdle A J Henderson John P Kemp Jie Zheng George Davey Smith Franz Rüschendorf Anja Bauerfeind Min Ae Lee-Kirsch Andreas Arnold Georg Homuth Carsten O Schmidt Elisabeth Mangold Sven Cichon Thomas Keil Elke Rodríguez Annette Peters Andre Franke Wolfgang Lieb Natalija Novak Regina Fölster-Holst Momoko Horikoshi Juha Pekkanen Sylvain Sebert Lise L Husemoen Niels Grarup Johan C de Jongste Fernando Rivadeneira Albert Hofman Vincent Wv Jaddoe Suzanne Gma Pasmans Niels J Elbert André G Uitterlinden Guy B Marks Philip J Thompson Melanie C Matheson Colin F Robertson Janina S Ried Jin Li Xian Bo Zuo Xiao Dong Zheng Xian Yong Yin Liang Dan Sun Maeve A McAleer Grainne M O'Regan Caoimhe Mr Fahy Linda E Campbell Milan Macek Michael Kurek Donglei Hu Celeste Eng Dirkje S Postma Bjarke Feenstra Frank Geller Jouke Jan Hottenga Christel M Middeldorp Pirro Hysi Veronique Bataille Tim Spector Carla Mt Tiesler Elisabeth Thiering Badri Pahukasahasram James J Yang Medea Imboden Scott Huntsman Natàlia Vilor-Tejedor Caroline L Relton Ronny Myhre Wenche Nystad Adnan Custovic Scott T Weiss Deborah A Meyers Cilla Söderhäll Erik Melén Carole Ober Benjamin A Raby Angela Simpson Bo Jacobsson John W Holloway Hans Bisgaard Jordi Sunyer Nicole M Probst Hensch L Keoki Williams Keith M Godfrey Carol A Wang Dorret I Boomsma Mads Melbye Gerard H Koppelman Deborah Jarvis Wh Irwin McLean Alan D Irvine Xue Jun Zhang Hakon Hakonarson Christian Gieger Esteban G Burchard Nicholas G Martin Liesbeth Duijts Allan Linneberg Marjo-Riitta Jarvelin Markus M Noethen Susanne Lau Norbert Hübner Young-Ae Lee Mayumi Tamari David A Hinds Daniel Glass Sara J Brown Joachim Heinrich David M Evans Stephan Weidinger

Nat Genet 2015 Dec 19;47(12):1449-1456. Epub 2015 Oct 19.

Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

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http://dx.doi.org/10.1038/ng.3424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4753676PMC
December 2015

Reticular Pseudodrusen in Sorsby Fundus Dystrophy.

Ophthalmology 2015 Aug 12;122(8):1555-62. Epub 2015 Jun 12.

Department of Ophthalmology, University Hospital of Bonn, Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2015.04.035DOI Listing
August 2015

A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate.

Am J Med Genet A 2015 Mar;167A(3):670-3

Section of Phoniatrics and Pedaudiology, Department of Otolaryngology - Head and Neck Surgery, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36891DOI Listing
March 2015

Outcome and prognostic factors in T4a oropharyngeal carcinoma, including the role of HPV infection.

Biomed Res Int 2014 31;2014:390825. Epub 2014 Mar 31.

Department of Otorhinolaryngology, Head and Neck Surgery, Friedrich Alexander University of Erlangen-Nuremberg, Waldstraße 1, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1155/2014/390825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988966PMC
January 2015

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives.

Bioinformatics 2014 Aug 16;30(15):2189-96. Epub 2014 Apr 16.

Centre de Recherche de l'Institut Universitaire en Santé Mentale de Québec, G1J 2G3, Département de Médecine Sociale et Préventive, Université Laval, Québec, G1V 0A6 Canada, Department of Biostatistics, Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, Department of Oral Biology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, PA 15219, Department of Pediatrics, School of Medicine, University of Iowa, IA 52242, USA, Institute of Human Genetics, University of Bonn, Bonn D-53127, Germany and Dr. Hejazi Clinic, P.O. Box 2519, Riyadh 11461, Saudi Arabia.

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http://bioinformatics.oxfordjournals.org/content/early/2014/
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http://bioinformatics.oxfordjournals.org/cgi/doi/10.1093/bio
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http://dx.doi.org/10.1093/bioinformatics/btu198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103601PMC
August 2014

Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway.

Birth Defects Res A Clin Mol Teratol 2014 Jun 7;100(6):493-8. Epub 2014 Apr 7.

Institute of Human Genetics, University of Bonn, Bonn, Germany; Klinikverbund St. Antonius und St. Josef, Wuppertal, Germany; Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/bdra.23244DOI Listing
June 2014

Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population.

Birth Defects Res A Clin Mol Teratol 2014 Jan 31;100(1):43-7. Epub 2013 Dec 31.

Institute of Human Genetics, University of Bonn, Bonn, Germany; Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/bdra.23209DOI Listing
January 2014

Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.

Eur J Hum Genet 2014 Jun 30;22(6):822-30. Epub 2013 Oct 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, Hess Center for Science and Medicine, New York, NY, USA.

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http://dx.doi.org/10.1038/ejhg.2013.235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023210PMC
June 2014

Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample.

Am J Med Genet A 2013 Oct 16;161A(10):2545-9. Epub 2013 Aug 16.

Institute of Human Genetics, University of Bonn, Bonn, Germany; Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36141DOI Listing
October 2013

Is it rare or common?

Genet Epidemiol 2012 Jul 30;36(5):419-29. Epub 2012 Apr 30.

Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1002/gepi.21637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641852PMC
July 2012

Breakthroughs in the genetics of orofacial clefting.

Trends Mol Med 2011 Dec 30;17(12):725-33. Epub 2011 Aug 30.

Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, 53127 Bonn, Germany.

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http://dx.doi.org/10.1016/j.molmed.2011.07.007DOI Listing
December 2011

Muir-Torre syndrome: Diagnostic and screening guidelines.

Australas J Dermatol 2006 Nov;47(4):266-9

Department of Dermatology, Our Lady of Lourdes Hospital, Drogheda, Ireland.

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http://dx.doi.org/10.1111/j.1440-0960.2006.00292.xDOI Listing
November 2006

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

Hum Genet 2006 Mar 8;119(1-2):9-22. Epub 2005 Dec 8.

Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany.

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http://dx.doi.org/10.1007/s00439-005-0107-8DOI Listing
March 2006