Publications by authors named "Hartmut Engels"

54Publications

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

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

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

Hum Genet 2018 May 23;137(5):401-411. Epub 2018 May 23.

Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Sigmund-Freud-Str. 25, 53127, Bonn, Germany.

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http://dx.doi.org/10.1007/s00439-018-1892-1DOI Listing
May 2018

Array-based molecular karyotyping in fetal brain malformations: Identification of novel candidate genes and chromosomal regions.

Birth Defects Res A Clin Mol Teratol 2016 Jan 17;106(1):16-26. Epub 2015 Dec 17.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/bdra.23458DOI Listing
January 2016

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling.

Am J Hum Genet 2015 Sep;97(3):445-56

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Nikolaus-Fiebiger-Center for Molecular Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2015.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564991PMC
September 2015

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Hum Mutat 2014 Jul 6;35(7):809-13. Epub 2014 May 6.

Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/humu.22555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277879PMC
July 2014

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Am J Med Genet A 2011 Aug 7;155A(8):1857-64. Epub 2011 Jul 7.

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34072DOI Listing
August 2011

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation.

Eur J Med Genet 2011 Jan-Feb;54(1):67-72. Epub 2010 Oct 13.

Institute of Human Genetics, University of Bonn, Biomedizinisches Zentrum, Sigmund-Freud-Strasse 25, D-53105 Bonn, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2010.09.012DOI Listing
June 2011

First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.

Eur J Med Genet 2006 May-Jun;49(3):225-34. Epub 2005 Aug 19.

Institute of Pathology, University Hospital Giessen, Langhansstr: 10, D 35392 Giessen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2005.07.002DOI Listing
July 2006

Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations.

Am J Med Genet 2002 Aug;111(2):205-9

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

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http://dx.doi.org/10.1002/ajmg.10560DOI Listing
August 2002