Publications by authors named "Thomas Eggermann"

100Publications

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family.

Eur J Hum Genet 2020 Nov 21. Epub 2020 Nov 21.

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

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http://dx.doi.org/10.1038/s41431-020-00762-0DOI Listing
November 2020

Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.

Clin Epigenetics 2020 Oct 19;12(1):152. Epub 2020 Oct 19.

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

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http://dx.doi.org/10.1186/s13148-020-00945-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574352PMC
October 2020

Molecular characterization of temple syndrome families with 14q32 epimutations.

Eur J Med Genet 2020 Sep 30;63(12):104077. Epub 2020 Sep 30.

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

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http://dx.doi.org/10.1016/j.ejmg.2020.104077DOI Listing
September 2020

Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome.

Am J Med Genet A 2020 11 28;182(11):2727-2730. Epub 2020 Aug 28.

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

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http://dx.doi.org/10.1002/ajmg.a.61833DOI Listing
November 2020

Paternal 132 bp deletion affecting in 11p15.5 is associated with growth retardation but does not affect imprinting.

J Med Genet 2020 May 23. Epub 2020 May 23.

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

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http://dx.doi.org/10.1136/jmedgenet-2020-106868DOI Listing
May 2020

HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence.

J Clin Endocrinol Metab 2020 Jul;105(7)

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

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http://dx.doi.org/10.1210/clinem/dgaa273DOI Listing
July 2020

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome.

Clin Epigenetics 2020 05 11;12(1):63. Epub 2020 May 11.

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

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http://dx.doi.org/10.1186/s13148-020-00856-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216698PMC
May 2020

Genetic barcoding reveals clonal dominance in iPSC-derived mesenchymal stromal cells.

Stem Cell Res Ther 2020 03 5;11(1):105. Epub 2020 Mar 5.

Helmholtz Institute for Biomedical Engineering, Stem Cell Biology and Cellular Engineering, RWTH Aachen University Medical School, Pauwelsstrasse 20, 52074, Aachen, Germany.

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http://dx.doi.org/10.1186/s13287-020-01619-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059393PMC
March 2020

upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts.

Clin Genet 2020 06 11;97(6):902-907. Epub 2020 Mar 11.

Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.

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http://dx.doi.org/10.1111/cge.13727DOI Listing
June 2020

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

Hum Reprod Update 2020 02;26(2):197-213

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

Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome.

J Clin Ultrasound 2020 May 28;48(4):240-243. Epub 2020 Jan 28.

Klinik für Geburtsmedizin, Charité - Universitätsmedizin, Berlin, Germany.

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http://dx.doi.org/10.1002/jcu.22815DOI Listing
May 2020

Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management.

Int J Mol Sci 2019 Aug 28;20(17). Epub 2019 Aug 28.

Institute of Human Genetics, University Hospital, Technical University Aachen (RWTH), 52074 Aachen, Germany.

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http://dx.doi.org/10.3390/ijms20174219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747273PMC
August 2019

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

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

Serotonergic Contributions to Human Brain Aggression Networks.

Front Neurosci 2019 22;13:42. Epub 2019 Feb 22.

Department of Psychiatry, Psychotherapy and Psychosomatics, Faculty of Medicine, RWTH Aachen, Aachen, Germany.

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http://dx.doi.org/10.3389/fnins.2019.00042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395384PMC
February 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

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.

Nat Rev Genet 2019 04;20(4):235-248

Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', Caserta; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso' CNR, Napoli, Italy.

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http://www.nature.com/articles/s41576-018-0092-0
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http://dx.doi.org/10.1038/s41576-018-0092-0DOI Listing
April 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

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria.

BMC Nephrol 2018 10 20;19(1):278. Epub 2018 Oct 20.

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

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https://bmcnephrol.biomedcentral.com/articles/10.1186/s12882
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http://dx.doi.org/10.1186/s12882-018-1080-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196009PMC
October 2018

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

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

Interrupted reprogramming into induced pluripotent stem cells does not rejuvenate human mesenchymal stromal cells.

Sci Rep 2018 08 3;8(1):11676. Epub 2018 Aug 3.

Helmholtz-Institute for Biomedical Engineering, Stem Cell Biology and Cellular Engineering, RWTH Aachen Faculty of Medicine, Aachen, Germany.

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http://www.nature.com/articles/s41598-018-30069-6
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http://dx.doi.org/10.1038/s41598-018-30069-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076311PMC
August 2018

[Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement].

Klin Padiatr 2018 Apr 16;230(3):151-159. Epub 2018 Apr 16.

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

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http://dx.doi.org/10.1055/a-0591-9479DOI Listing
April 2018

CTLA-4 Polymorphisms in Patients with IgA Nephropathy Correlate with Proteinuria.

Kidney Blood Press Res 2018 8;43(2):360-366. Epub 2018 Mar 8.

RWTH Aachen University, Dept. of Pediatrics, Aachen, Germany.

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http://dx.doi.org/10.1159/000488069DOI Listing
October 2018

Neural networks underlying trait aggression depend on MAOA gene alleles.

Brain Struct Funct 2018 Mar 10;223(2):873-881. Epub 2017 Oct 10.

Department of Psychiatry, Psychotherapy, and Psychosomatics, Medical School, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.

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http://dx.doi.org/10.1007/s00429-017-1528-6DOI Listing
March 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

The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome.

Horm Res Paediatr 2017 4;88(3-4):201-207. Epub 2017 Jul 4.

Pediatric Endocrinology, University Children's Hospital, Tübingen, Germany.

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http://dx.doi.org/10.1159/000477666DOI Listing
June 2018

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.

Pediatr Nephrol 2017 10 15;32(10):1989-1992. Epub 2017 Jun 15.

Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstraße 30, 52074, Aachen, Germany.

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http://dx.doi.org/10.1007/s00467-017-3710-8DOI Listing
October 2017

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

Cortico-limbic connectivity in MAOA-L carriers is vulnerable to acute tryptophan depletion.

Hum Brain Mapp 2017 03 9;38(3):1622-1635. Epub 2016 Dec 9.

Department of Psychiatry, Psychotherapy, and Psychosomatics, Medical School, RWTH Aachen University, Aachen, Germany.

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http://dx.doi.org/10.1002/hbm.23475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6866997PMC
March 2017

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.

Epigenetics 2018 25;13(2):117-121. Epub 2018 Jan 25.

i Applied Human Molecular Genetics, Kennedy Centre, Copenhagen University Hospital, Rigshospitalet , Glostrup , Denmark.

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http://dx.doi.org/10.1080/15592294.2016.1264561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873357PMC
December 2018

Acute effect of intravenously applied alcohol in the human striatal and extrastriatal D /D dopamine system.

Addict Biol 2017 Sep 11;22(5):1449-1458. Epub 2016 Jul 11.

Department of Nuclear Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

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http://dx.doi.org/10.1111/adb.12424DOI Listing
September 2017

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans.

Trends Genet 2016 07 24;32(7):444-455. Epub 2016 May 24.

Imprinting and Cancer group, Cancer Epigenetic and Biology Program, Institut d'Investigació Biomedica de Bellvitge, Hospital Duran i Reynals, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.tig.2016.05.001DOI Listing
July 2016

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Clin Epigenetics 2016 7;8:27. Epub 2016 Mar 7.

Endocrinology and diabetology for children and reference center for rare disorders of calcium and phosphorus metabolism, Bicêtre Paris Sud, APHP, Le Kremlin-Bicêtre, France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, France ; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France.

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http://dx.doi.org/10.1186/s13148-016-0194-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782320PMC
March 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

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

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Clin Epigenetics 2015 14;7:123. Epub 2015 Nov 14.

Endocrinology and diabetology for children and reference center for rare disorders of calcium and phosphorus metabolism, Bicêtre Paris Sud, APHP, Le Kremlin-Bicêtre, France ; INSERM U986, INSERM, Le Kremlin-Bicêtre, France ; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, F-75012 France.

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http://dx.doi.org/10.1186/s13148-015-0143-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650860PMC
November 2015

MAOA-VNTR polymorphism modulates context-dependent dopamine release and aggressive behavior in males.

Neuroimage 2016 Jan 16;125:378-385. Epub 2015 Oct 16.

Department of Psychiatry, Psychotherapy and Psychosomatics, RWTH Aachen University, 52074 Aachen, Germany; Jülich/Aachen Research Alliance (JARA), Jülich/Aachen, Germany.

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http://dx.doi.org/10.1016/j.neuroimage.2015.10.031DOI Listing
January 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

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

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

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.

Eur J Hum Genet 2015 Nov 20;23(11). Epub 2015 May 20.

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

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http://dx.doi.org/10.1038/ejhg.2015.90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613485PMC
November 2015

A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.

Am J Med Genet A 2015 May 28;167A(5):1121-4. Epub 2015 Mar 28.

Praxis für Humangenetik, Greifswald, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36972DOI Listing
May 2015

Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory.

Congenit Anom (Kyoto) 2015 Aug;55(3):167-9

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1111/cga.12105DOI Listing
August 2015

Mosaicism and uniparental disomy in prenatal diagnosis.

Trends Mol Med 2015 Feb 2;21(2):77-87. Epub 2014 Dec 2.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.molmed.2014.11.010DOI Listing
February 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

Effect of MAOA Genotype on Resting-State Networks in Healthy Participants.

Cereb Cortex 2015 Jul 22;25(7):1771-81. Epub 2014 Jan 22.

Department of Psychiatry, Psychotherapy and Psychosomatics, Medical School JARA-Translational Brain Medicine, Aachen, Germany.

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http://dx.doi.org/10.1093/cercor/bht366DOI Listing
July 2015

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.

Pediatr Nephrol 2014 Jan 19;29(1):155-9. Epub 2013 Sep 19.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Moorenstr. 5, 40225, Dusseldorf, Germany,

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http://dx.doi.org/10.1007/s00467-013-2617-2DOI Listing
January 2014

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

Neuropsychological correlates of transcription factor AP-2Beta, and its interaction with COMT and MAOA in healthy females.

Neuropsychobiology 2013 19;68(2):79-90. Epub 2013 Jul 19.

Department of Psychiatry and Psychotherapy, Medical Faculty, RWTH Aachen University, and JARA-Translational Brain Medicine, Aachen, Germany.

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http://dx.doi.org/10.1159/000350997DOI Listing
October 2014

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Eur J Hum Genet 2014 Mar 3;22(3). Epub 2013 Jul 3.

Department of Paediatrics and Genome Biology Program, Hospital for Sick Children and Institute of Medical Science, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925261PMC
March 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

Analysis of SYCP3 encoding synaptonemal complex protein 3 in human aneuploidies.

Arch Gynecol Obstet 2013 Nov 16;288(5):1153-8. Epub 2013 May 16.

Institute of Human Genetics, University Hospital RWTH Aachen, 52074, Aachen, Germany.

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http://dx.doi.org/10.1007/s00404-013-2861-5DOI Listing
November 2013

UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarrays.

Bioinformatics 2013 Jun 14;29(12):1562-4. Epub 2013 Apr 14.

Department of Medical Genetics, University of Tübingen, Calwerstr. 7, 72076 Tübingen, Germany.

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http://dx.doi.org/10.1093/bioinformatics/btt174DOI Listing
June 2013

Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.

Clin Nephrol 2013 Jan;79(1):78-80

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

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http://dx.doi.org/10.5414/cn106994DOI Listing
January 2013

Frequency and characterization of DNA methylation defects in children born SGA.

Eur J Hum Genet 2013 Aug 12;21(8):838-43. Epub 2012 Dec 12.

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

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http://dx.doi.org/10.1038/ejhg.2012.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722674PMC
August 2013