Matthias Begemann

Matthias Begemann

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Matthias Begemann

Matthias Begemann

Publications by authors named "Matthias Begemann"

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Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences.

Hum Reprod Update 2020 Feb 18. Epub 2020 Feb 18.

Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.

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http://dx.doi.org/10.1093/humupd/dmz045DOI Listing
February 2020

A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability.

Eur J Med Genet 2019 Dec 16:103826. Epub 2019 Dec 16.

Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2019.103826DOI Listing
December 2019

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

Am J Med Genet A 2019 Nov 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

Comparison of flow-FISH and MM-qPCR telomere length assessment techniques for the screening of telomeropathies.

Ann N Y Acad Sci 2019 Oct 24. Epub 2019 Oct 24.

Department of Hematology, Oncology, Hemostaseology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, University Hospital Aachen, Aachen, Germany.

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http://dx.doi.org/10.1111/nyas.14248DOI Listing
October 2019

Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations.

Eur J Med Genet 2019 Jul 14;62(7):103671. Epub 2019 May 14.

Institute of Human Genetics, University Hospital, Technical University Aachen (RWTH), Aachen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2019.103671DOI Listing
July 2019

Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome.

Mol Cell Probes 2019 04 2;44:1-7. Epub 2019 Jan 2.

Institute of Human Genetics, University Hospital, Technical University RWTH, Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2018.12.007DOI Listing
April 2019

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.

Clin Epigenetics 2019 02 15;11(1):30. Epub 2019 Feb 15.

Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, D-52074, Aachen, Germany.

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http://dx.doi.org/10.1186/s13148-019-0629-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377752PMC
February 2019

Identification of transcription factor binding sites using ATAC-seq.

Genome Biol 2019 02 26;20(1):45. Epub 2019 Feb 26.

Institute for Computational Genomics, Joint Research Center for Computational Biomedicine, RWTH Aachen University Medical School, Aachen, 52074, Germany.

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https://genomebiology.biomedcentral.com/articles/10.1186/s13
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http://dx.doi.org/10.1186/s13059-019-1642-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391789PMC
February 2019

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients.

Mol Genet Genomic Med 2018 11 11;6(6):1225-1228. Epub 2018 Aug 11.

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

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http://doi.wiley.com/10.1002/mgg3.426
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http://dx.doi.org/10.1002/mgg3.426DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305658PMC
November 2018

NLRP genes and their role in preeclampsia and multi-locus imprinting disorders.

J Perinat Med 2018 Feb;46(2):169-173

Institute of Human Genetics, University Hospital, Technical University (RWTH) Aachen, Aachen, Germany.

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http://dx.doi.org/10.1515/jpm-2016-0405DOI Listing
February 2018

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

J Pediatr 2017 08 19;187:206-212.e1. Epub 2017 May 19.

Institute of Human Genetics, University Hospital, Technical University Aachen (Rheinisch-Westfälische Technische Hochschule), Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.04.018DOI Listing
August 2017

Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features.

Am J Med Genet A 2016 Mar 10;170(3):743-9. Epub 2015 Dec 10.

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

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http://dx.doi.org/10.1002/ajmg.a.37492DOI Listing
March 2016

No major contribution of IGF2 variants to the etiology of sporadic 11p15-associated imprinting disorders.

Am J Med Genet A 2016 Jan 8;170A(1):283-4. Epub 2015 Oct 8.

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

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http://dx.doi.org/10.1002/ajmg.a.37416DOI Listing
January 2016

First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation.

Eur J Med Genet 2016 Jan 10;59(1):1-4. Epub 2015 Dec 10.

Institute of Human Genetics, RWTH University Hospital Aachen, Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.12.003DOI Listing
January 2016

Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management.

Mol Cell Probes 2015 Oct 10;29(5):282-90. Epub 2015 Jun 10.

Institute of Human Genetics, University Hospital, RWTH Technical University Aachen, Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2015.05.003DOI Listing
October 2015

Paternally Inherited IGF2 Mutation and Growth Restriction.

N Engl J Med 2015 Jul 8;373(4):349-56. Epub 2015 Jul 8.

From the Institute of Human Genetics, University Hospital, Rhine-Westphalia Institute of Technology (RWTH) Aachen, Aachen (M.B., L.S., T.E.), Department of Pediatrics and Neuropediatrics, University Medicine, Göttingen, and Genetikum, Genetic Counseling and Diagnostics, Stuttgart (B.Z.), Ligandis, Gülzow-Prüzen (E.W.), Department of Pediatrics and Neuropediatrics, SLK-Kliniken, Heilbronn (H.-M.B.), and Pediatric Endocrinology Section, University Children's Hospital, University of Tübingen, Tübingen (R.S., G.B.) - all in Germany; and the Department of Clinical Genetics, Leiden University Medical Center (G.S.), GenomeScan (G.S., W.W.), and ServiceXS (W.W.) - all in Leiden, the Netherlands.

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http://dx.doi.org/10.1056/NEJMoa1415227DOI Listing
July 2015

CDKN1C mutations: two sides of the same coin.

Trends Mol Med 2014 Nov 25;20(11):614-22. Epub 2014 Sep 25.

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

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http://dx.doi.org/10.1016/j.molmed.2014.09.001DOI Listing
November 2014

Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders.

J Pediatr 2013 Oct 1;163(4):1202-7. Epub 2013 Jul 1.

Institute of Human Genetics, RWTH Technical University, Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2013.05.017DOI Listing
October 2013

IGF1R mutation analysis in short children with Silver-Russell syndrome features.

J Pediatr Genet 2013 Sep;2(3):113-7

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

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http://dx.doi.org/10.3233/PGE-13059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020970PMC
September 2013

Epigenetic and genetic diagnosis of Silver-Russell syndrome.

Expert Rev Mol Diagn 2012 Jun;12(5):459-71

Institute of Human Genetics, University Hospital Aachen, Pauwelsstr. 30, D-52074 Aachen, Germany.

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http://dx.doi.org/10.1586/erm.12.43DOI Listing
June 2012

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation.

Am J Med Genet A 2012 Feb 13;158A(2):423-8. Epub 2012 Jan 13.

Institut für Humangenetik, RWTH, Aachen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34412DOI Listing
February 2012

Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome.

Genet Test Mol Biomarkers 2011 Oct 25;15(10):725-6. Epub 2011 May 25.

Institute of Human Genetics, RWTH Aachen, Aachen, Germany.

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http://dx.doi.org/10.1089/gtmb.2011.0013DOI Listing
October 2011

Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders.

Epigenomics 2011 Oct;3(5):625-37

Institute of Human Genetics, RWTH Aachen, Pauwelsstr. 30, D-52074 Aachen, Germany.

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https://www.futuremedicine.com/doi/10.2217/epi.11.84
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http://dx.doi.org/10.2217/epi.11.84DOI Listing
October 2011

Silver-Russell syndrome.

Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):153-60

University Children's Hospital Tuebingen, Paediatric Endocrinology, Hoppe-Seyler-Strasse 1, Tuebingen, Germany.

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http://dx.doi.org/10.1016/j.beem.2010.06.005DOI Listing
February 2011

Genetic and epigenetic findings in Silver-Russell syndrome.

Pediatr Endocrinol Rev 2010 Dec;8(2):86-93

Institute of Human Genetics, RWTH Aachen Pauwelsstr. 30, D-52074 Aachen.

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December 2010

Silver-Russell syndrome: genetic basis and molecular genetic testing.

Orphanet J Rare Dis 2010 Jun 23;5:19. Epub 2010 Jun 23.

RWTH Aachen, Institute of Human Genetics, Aachen, Germany.

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http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-1
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http://dx.doi.org/10.1186/1750-1172-5-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2907323PMC
June 2010

Behavioural and skill-based early interventions in children with autism spectrum disorders.

GMS Health Technol Assess 2009 Jul 29;5:Doc10. Epub 2009 Jul 29.

Institut für Sozialmedizin, Epidemiologie und Gesundheitsökonomie, Charité - Universitätsmedizin Berlin, Berlin, Deutschland.

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http://dx.doi.org/10.3205/hta000072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3011283PMC
July 2009