Hans-Hilger Ropers

Hans-Hilger Ropers

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Hans-Hilger Ropers

Hans-Hilger Ropers

Publications by authors named "Hans-Hilger Ropers"

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100Publications

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Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

Neuropediatrics 2019 Oct 18. Epub 2019 Oct 18.

Charité-Universitätsmedizin Berlin, Klinik für Pädiatrie mit Schwerpunkt Neurologie, Augustenburger Platz 1, Berlin, Germany.

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http://dx.doi.org/10.1055/s-0039-1695787DOI Listing
October 2019

Homozygous variants in the gene SCAPER cause syndromic intellectual disability.

Am J Med Genet A 2019 07 9;179(7):1214-1225. Epub 2019 May 9.

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61172
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http://dx.doi.org/10.1002/ajmg.a.61172DOI Listing
July 2019

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.

Am J Med Genet B Neuropsychiatr Genet 2018 12 18;177(8):691-699. Epub 2018 Nov 18.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.b.32648DOI Listing
December 2018

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.

Cell Cycle 2014 1;13(10):1650-1. Epub 2014 Apr 1.

Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany; Institute of Cell Biology and Neurobiology; Charité University Medicine Berlin; Berlin, Germany.

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http://dx.doi.org/10.4161/cc.28706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4050170PMC
February 2016

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

Am J Hum Genet 2015 Mar 19;96(3):386-96. Epub 2015 Feb 19.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical center, Nijmegen 6500 HB, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375531PMC
March 2015

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.

Hum Mol Genet 2014 Dec 1;23(23):6163-76. Epub 2014 Jul 1.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen N DK-2200, Denmark,

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http://dx.doi.org/10.1093/hmg/ddu337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222360PMC
December 2014

Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

Am J Med Genet A 2013 Dec 16;161A(12):3063-71. Epub 2013 Aug 16.

Service de Génétique and Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Université de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36162DOI Listing
December 2013

On the future of genetic risk assessment.

J Community Genet 2012 Jul 1;3(3):229-36. Epub 2012 Apr 1.

Max Planck Institute for Molecular Genetics, Ihnestr. 73, 14195, Berlin, Germany,

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http://dx.doi.org/10.1007/s12687-012-0092-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3419289PMC
July 2012

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability.

Am J Med Genet A 2011 Dec 14;155A(12):3067-70. Epub 2011 Oct 14.

Humangenetik Ulm MVZ, Ulm, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34291DOI Listing
December 2011

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Eur J Pediatr 2010 Dec 27;169(12):1535-9. Epub 2010 Jul 27.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://link.springer.com/10.1007/s00431-010-1267-7
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http://dx.doi.org/10.1007/s00431-010-1267-7DOI Listing
December 2010

11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features.

Am J Med Genet A 2010 Oct;152A(10):2651-5

Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.33623DOI Listing
October 2010

Genetics of early onset cognitive impairment.

Annu Rev Genomics Hum Genet 2010 ;11:161-87

Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://www.annualreviews.org/doi/10.1146/annurev-genom-08250
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http://dx.doi.org/10.1146/annurev-genom-082509-141640DOI Listing
September 2010

TRPV1 acts as a synaptic protein and regulates vesicle recycling.

J Cell Sci 2010 Jun 18;123(Pt 12):2045-57. Epub 2010 May 18.

Signal Transduction in Pain and Mental Retardation, Department for Molecular Human Genetics, Max-Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1242/jcs.065144DOI Listing
June 2010

Single gene disorders come into focus--again.

Dialogues Clin Neurosci 2010 ;12(1):95-102

Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3181948PMC
April 2010

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Eur J Pediatr 2008 Aug 12;167(8):903-8. Epub 2007 Oct 12.

Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://dx.doi.org/10.1007/s00431-007-0616-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757600PMC
August 2008

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

Am J Hum Genet 2008 May 10;82(5):1165-70. Epub 2008 Apr 10.

Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.

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http://dx.doi.org/10.1016/j.ajhg.2008.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427221PMC
May 2008

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Eur J Hum Genet 2008 Mar 9;16(3):312-9. Epub 2008 Jan 9.

Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201985DOI Listing
March 2008

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.

Hum Mol Genet 2008 Feb 6;17(3):458-65. Epub 2007 Nov 6.

Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1093/hmg/ddm323DOI Listing
February 2008

Characterization of interstitial Xp duplications in two families by tiling path array CGH.

Am J Med Genet A 2008 Jan;146A(2):197-203

Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32070DOI Listing
January 2008

New perspectives for the elucidation of genetic disorders.

Am J Hum Genet 2007 Aug 29;81(2):199-207. Epub 2007 Jun 29.

Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1086/520679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950818PMC
August 2007

Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.

Eur J Hum Genet 2007 Jun 28;15(6):711-3. Epub 2007 Mar 28.

Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Blegdamsvej 3, 2200 KBH N Copenhagen, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201824DOI Listing
June 2007

X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.

Eur J Hum Genet 2007 Jan 13;15(1):68-75. Epub 2006 Sep 13.

Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1038/sj.ejhg.5201714DOI Listing
January 2007

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Eur J Hum Genet 2006 Dec 9;14(12):1274-9. Epub 2006 Aug 9.

Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1038/sj.ejhg.5201696DOI Listing
December 2006

Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.

Eur J Hum Genet 2006 Dec 23;14(12):1317-20. Epub 2006 Aug 23.

Department Ropers, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.

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http://dx.doi.org/10.1038/sj.ejhg.5201707DOI Listing
December 2006

X-linked mental retardation: many genes for a complex disorder.

Curr Opin Genet Dev 2006 Jun 2;16(3):260-9. Epub 2006 May 2.

Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany.

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http://dx.doi.org/10.1016/j.gde.2006.04.017DOI Listing
June 2006

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

Am J Med Genet A 2006 Apr;140(8):873-7

Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31163DOI Listing
April 2006

Characterization of FBX25, encoding a novel brain-expressed F-box protein.

Biochim Biophys Acta 2006 Jan 24;1760(1):110-8. Epub 2005 Oct 24.

Max Planck Institute for Molecular Genetics, Department of Human Molecular Genetics, Ihnestr. 73, D-14195 Berlin, Germany.

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http://dx.doi.org/10.1016/j.bbagen.2005.09.018DOI Listing
January 2006