Publications by authors named "Christian Beetz"

81Publications

Biallelic Pathogenic Variants Cause Autosomal Recessive Bilateral Renal Agenesis.

J Am Soc Nephrol 2020 Oct 5. Epub 2020 Oct 5.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India

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http://dx.doi.org/10.1681/ASN.2020040478DOI Listing
October 2020

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain 2020 Oct;143(10):2929-2944

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awz307DOI Listing
October 2020

Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant.

Am J Med Genet A 2020 Sep 10. Epub 2020 Sep 10.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.61858DOI Listing
September 2020

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.

Clin Genet 2020 04 26;97(4):644-648. Epub 2019 Dec 26.

Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.

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http://dx.doi.org/10.1111/cge.13690DOI Listing
April 2020

Plasma adiponectin is a potential biomarker for organ involvement in male Fabry disease patients.

Blood Cells Mol Dis 2020 02 30;80:102379. Epub 2019 Oct 30.

Independent consultant, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.bcmd.2019.102379DOI Listing
February 2020

Development and validation of a TTR-specific copy number screening tool, and application to potentially relevant patient cohorts.

Mol Cell Probes 2018 10 21;41:61-63. Epub 2018 Aug 21.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Am Klinikum 1, 07747, Jena, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08908508183018
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http://dx.doi.org/10.1016/j.mcp.2018.08.005DOI Listing
October 2018

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.

Hum Mutat 2018 02 27;39(2):193-196. Epub 2017 Nov 27.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.

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http://dx.doi.org/10.1002/humu.23369DOI Listing
February 2018

Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.

JAMA Neurol 2017 09;74(9):1123-1129

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, England.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2017.1406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710179PMC
September 2017

Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.

Hum Mutat 2017 03 13;38(3):275-278. Epub 2017 Jan 13.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.

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http://dx.doi.org/10.1002/humu.23162DOI Listing
March 2017

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.

J Hum Genet 2016 Oct 23;61(10):845-850. Epub 2016 Jun 23.

DNA Laboratory, Department of Child Neurology, Charles University Second Medical School and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1038/jhg.2016.73DOI Listing
October 2016

Maternal mosaicism for deletion clarifies recurrence risk in MPS I.

Hum Genome Var 2016 6;3:16031. Epub 2016 Oct 6.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital , Jena, Germany.

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http://dx.doi.org/10.1038/hgv.2016.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052355PMC
October 2016

Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.

Gene 2016 Sep 31;590(1):1-4. Epub 2016 May 31.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2016.05.040DOI Listing
September 2016

A polymorphic Alu insertion that mediates distinct disease-associated deletions.

Eur J Hum Genet 2016 08 2;24(9):1371-4. Epub 2016 Mar 2.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.

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http://dx.doi.org/10.1038/ejhg.2016.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4989209PMC
August 2016

Multiplex ligation-dependent probe amplification for identification of correctly targeted murine embryonic stem cell clones.

Anal Biochem 2015 Apr 20;474:35-7. Epub 2015 Jan 20.

Department of Clinical Chemistry and Laboratory Diagnostics, Jena University Hospital, 07747 Jena, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ab.2015.01.007DOI Listing
April 2015

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

Neurology 2015 Jan 5;84(2):141-7. Epub 2014 Dec 5.

From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.

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http://www.neurology.org/content/84/2/141.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000112
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http://dx.doi.org/10.1212/WNL.0000000000001129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336087PMC
January 2015

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.

J Neurol Sci 2014 Dec 16;347(1-2):372-4. Epub 2014 Oct 16.

Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany.

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http://dx.doi.org/10.1016/j.jns.2014.10.018DOI Listing
December 2014

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

J Clin Oncol 2014 Dec 17;32(36):4155-61. Epub 2014 Nov 17.

Miriam J. Smith, Simon G. Williams, Sanjeev S. Bhaskar, James O'Sullivan, Beverley Anderson, Sarah B. Daly, Jill E. Urquhart, Zaynab Bholah, William G. Newman, and D. Gareth R. Evans, Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre, and Central Manchester University Hospitals National Health Service (NHS) Foundation Trust; Deemesh Oudit, Christie NHS Foundation Trust; Edmund Cheesman and Anna Kelsey, Central Manchester University Hospital NHS Foundation Trust, Royal Manchester Children's Hospital; Martin G. McCabe, Institute of Cancer Sciences, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom; and Christian Beetz, Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena, Jena, Germany.

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http://jco.ascopubs.org/content/early/2014/11/20/JCO.2014.58
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http://jco.ascopubs.org/cgi/doi/10.1200/JCO.2014.58.2569
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http://dx.doi.org/10.1200/JCO.2014.58.2569DOI Listing
December 2014

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.

J Pathol 2014 Dec 6;234(4):436-40. Epub 2014 Oct 6.

Manchester Centre for Genomic Medicine, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), UK.

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http://dx.doi.org/10.1002/path.4427DOI Listing
December 2014

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology.

Hum Mutat 2014 Apr 5;35(4):497-504. Epub 2014 Mar 5.

Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.

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http://dx.doi.org/10.1002/humu.22521DOI Listing
April 2014

Methylation-specific multiplex ligation-dependent probe amplification and its impact on clinical findings in medulloblastoma.

J Neurooncol 2014 Jan 27;116(2):213-20. Epub 2013 Oct 27.

Department of Neurosurgery, Jena University Hospital, Friedrich-Schiller-University Jena, Erlanger Allee 101, 07747, Jena, Germany,

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http://dx.doi.org/10.1007/s11060-013-1286-0DOI Listing
January 2014

MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives.

Anal Biochem 2012 Feb 9;421(2):799-801. Epub 2011 Dec 9.

Department of Clinical Chemistry and Laboratory Diagnostics, University Hospital Jena, Jena, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S000326971100773
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http://dx.doi.org/10.1016/j.ab.2011.12.002DOI Listing
February 2012

A homemade MLPA assay detects known CTNS mutations and identifies a novel deletion in a previously unresolved cystinosis family.

Gene 2012 Mar 24;495(1):89-92. Epub 2011 Dec 24.

Institut für Klinische Chemie und Laboratoriumsdiagnostik, Uniklinikum Jena, Jena, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S03781119110075
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http://dx.doi.org/10.1016/j.gene.2011.12.005DOI Listing
March 2012

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.

J Med Genet 2011 Jun 1;48(6):407-12. Epub 2011 Mar 1.

Department of Neurology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str. 3, D 72076 Tübingen, Germany.

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http://dx.doi.org/10.1136/jmg.2010.087023DOI Listing
June 2011

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Neurogenetics 2009 Apr 15;10(2):97-104. Epub 2008 Oct 15.

Sektion Klinische Neurogenetik, Hertie Institut für Klinische Hirnforschung, Tübingen, Germany.

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http://dx.doi.org/10.1007/s10048-008-0158-9DOI Listing
April 2009

Methylation-specific multiplex ligation-dependent probe amplification in meningiomas.

J Neurooncol 2008 Dec 2;90(3):267-73. Epub 2008 Sep 2.

Klinik für Neurochirurgie, Universitätsklinikum, Jena, Germany.

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http://dx.doi.org/10.1007/s11060-008-9672-8DOI Listing
December 2008

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.

J Neurol Sci 2008 May 14;268(1-2):131-5. Epub 2008 Jan 14.

Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum, 07747 Jena, Germany.

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http://dx.doi.org/10.1016/j.jns.2007.11.015DOI Listing
May 2008

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.

Eur J Hum Genet 2007 Dec 26;15(12):1276-9. Epub 2007 Sep 26.

Departamento de Genética e Biologia Evolutiva, Human Genome Research Center, Bioscience Institute, University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1038/sj.ejhg.5201924DOI Listing
December 2007

A paediatric supratentorial primitive neuroectodermal tumour associated with malignant astrocytic transformation and a clonal origin of both components.

Neurosurg Rev 2007 Apr 27;30(2):143-9; discussion 149. Epub 2007 Feb 27.

Department of Neurosurgery, Medical Centre, Friedrich-Schiller-University, Erlanger Allee 101, 07747 Jena, Germany.

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http://dx.doi.org/10.1007/s10143-007-0069-5DOI Listing
April 2007

Outcome-based profiling of astrocytic tumours identifies prognostic gene expression signatures which link molecular and morphology-based pathology.

Int J Oncol 2006 Nov;29(5):1183-91

Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum Jena, D-07740 Jena, Germany.

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November 2006

Low expression but infrequent genomic loss of the putative tumour suppressor DBCCR1 in astrocytoma.

Oncol Rep 2005 Feb;13(2):335-40

Institut für Pathologie, Klinikum der Friedrich-Schiller-Universität Jena, D-07740 Jena, Germany.

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February 2005

Expression of ether à go-go potassium channels in human gliomas.

Neurosci Lett 2004 Sep;368(3):249-53

Institute of Pathology (Neuropathology), Friedrich Schiller University Jena, Bachstr. 18, D-07740 Jena, Germany.

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http://dx.doi.org/10.1016/j.neulet.2004.07.001DOI Listing
September 2004

Rapid generation of detailed loss of heterozygosity profiles for routine diagnosis of gliomas.

Clin Chem Lab Med 2004 ;42(6):595-601

Institut für Pathologie, Klinikum der Friedrich-Schiller-Universität Jena, Jena, Germany.

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http://dx.doi.org/10.1515/CCLM.2004.103DOI Listing
December 2004

Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system.

Biochem Biophys Res Commun 2004 Jun;318(4):1079-84

Institut für Pathologie, Klinikum der Friedrich-Schiller Universität Jena, Ziegelmühlenweg 1, 07740 Jena, Germany.

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http://linkinghub.elsevier.com/retrieve/pii/S0006291X0400876
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http://dx.doi.org/10.1016/j.bbrc.2004.03.195DOI Listing
June 2004

Expression of voltage-gated potassium channels Kv1.3 and Kv1.5 in human gliomas.

Neurosci Lett 2003 Jul;346(1-2):33-6

Institute of Pathology (Neuropathology), Friedrich Schiller University Jena, Bachstrasse 18, D-07740 Jena, Germany.

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http://dx.doi.org/10.1016/s0304-3940(03)00562-7DOI Listing
July 2003

Molecular characterization of voltage-gated sodium channels in human gliomas.

Neuroreport 2002 Dec;13(18):2493-8

Institute of Pathology (Neuropathology), Friedrich Schiller University-Jena, Bachstrasse 18, D-07740 Jena, Germany.

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http://dx.doi.org/10.1097/00001756-200212200-00023DOI Listing
December 2002