Elke Holinski-Feder

Elke Holinski-Feder

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Elke Holinski-Feder

Elke Holinski-Feder

Publications by authors named "Elke Holinski-Feder"

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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

Eur J Hum Genet 2019 Dec 22;27(12):1808-1820. Epub 2019 Jul 22.

Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Ziemssenstr. 1, 80336, Munich, Germany.

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http://dx.doi.org/10.1038/s41431-019-0472-8DOI Listing
December 2019

Genetic Screening and Personalized Prevention in Colorectal Cancer.

Visc Med 2019 Aug 17;35(4):226-230. Epub 2019 Jul 17.

MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.

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http://dx.doi.org/10.1159/000501941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738322PMC
August 2019

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2019 Jul 24. Epub 2019 Jul 24.

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-019-0596-9DOI Listing
July 2019

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.

Mol Cell Probes 2019 04 22;44:14-20. Epub 2019 Jan 22.

Medical Genetics Center, Munich, Germany; Department of Neurology, Friedrich-Baur-Institute, Klinikum der Ludwig-Maximilians-University, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2019.01.003DOI Listing
April 2019

[Colorectal cancer prevention and early detection: what is the best strategy?]

MMW Fortschr Med 2019 04;161(7):43-48

Medizinisch Genetisches Zentrum, München, Deutschland.

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http://dx.doi.org/10.1007/s15006-019-0407-xDOI Listing
April 2019

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

Hered Cancer Clin Pract 2019 28;17. Epub 2019 Feb 28.

4Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, part of Oslo University Hospital, Olso, Norway.

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-019-0106-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394091PMC
February 2019

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

Fam Cancer 2018 01;17(1):141-153

Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1007/s10689-017-0011-0DOI Listing
January 2018

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

Fam Cancer 2017 Oct;16(4):491-500

Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Ziemssenstr. 1, 80336, Munich, Germany.

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http://dx.doi.org/10.1007/s10689-017-9975-zDOI Listing
October 2017

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

Neuromuscul Disord 2017 May 14;27(5):473-476. Epub 2017 Feb 14.

Department of Neurology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.005DOI Listing
May 2017

Mitochondrial dysfunction in liver failure requiring transplantation.

J Inherit Metab Dis 2016 05 6;39(3):427-436. Epub 2016 Apr 6.

Institute of Genetic Medicine, John Walton Muscular Dystrophy Research Centre and Wellcome Trust Centre for Mitochondrial Research, Central Parkway, NE1 3BZ, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1007/s10545-016-9927-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851707PMC
May 2016

Economic evaluation of genetic screening for Lynch syndrome in Germany.

Genet Med 2015 Oct 8;17(10):765-73. Epub 2015 Jan 8.

Institute for Health Economics and Health Care Management, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Neuherberg, Germany.

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http://dx.doi.org/10.1038/gim.2014.190DOI Listing
October 2015

Respiratory chain deficiency in nonmitochondrial disease.

Neurol Genet 2015 Jun 27;1(1):e6. Epub 2015 Apr 27.

Wellcome Trust Centre for Mitochondrial Research (A.P., H.J.N., H.G., K.D., M.S.-K., P.F.C., R.H.), Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Medical Genetics Center (A.A., L.F., B.C., S.K., E.H.-F.), Munich, Germany; Division of Neuropediatrics and Muscle Disorders (J.K.), University Medical Center, Freiburg, Germany; Department of Paediatrics (I.B., M.C.), University Hospital Center Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia; Department of Paediatrics (M.K.), Hospital Baden-Baden, Germany; and Department of Molecular Genetics and Diagnostics (V.K.), NIEH, Budapest, Hungary.

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http://dx.doi.org/10.1212/NXG.0000000000000006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821083PMC
June 2015

Biallelic MUTYH mutations can mimic Lynch syndrome.

Eur J Hum Genet 2014 Nov 12;22(11):1334-7. Epub 2014 Feb 12.

1] Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany [2] MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200426PMC
November 2014

A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer.

Int J Cancer 2014 Feb 29;134(4):939-47. Epub 2013 Aug 29.

Queen Mary University of London, Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine, Charterhouse Square, London, United Kingdom.

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http://dx.doi.org/10.1002/ijc.28397DOI Listing
February 2014

An American founder mutation in MLH1.

Int J Cancer 2012 May 30;130(9):2088-95. Epub 2011 Aug 30.

Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH 43210, USA.

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http://dx.doi.org/10.1002/ijc.26233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3266960PMC
May 2012

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

J Neurol Neurosurg Psychiatry 2012 Feb 29;83(2):174-8. Epub 2011 Oct 29.

Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1136/jnnp-2011-301258DOI Listing
February 2012

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.

Neuromuscul Disord 2011 Nov 16;21(11):803-8. Epub 2011 Jul 16.

Department of Paediatrics, Paracelsus Medical University Salzburg, Müllner Hauptstrasse 48, Salzburg, Austria.

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http://dx.doi.org/10.1016/j.nmd.2011.06.005DOI Listing
November 2011

Recovery of systolic dysfunction in duchenne muscular dystrophy due to the point mutation c.4213C>T.

Cardiology 2010 26;117(4):265-7. Epub 2011 Jan 26.

Krankenanstalt Rudolfstiftung, Vienna, Austria.

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https://www.karger.com/Article/FullText/323515
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http://dx.doi.org/10.1159/000323515DOI Listing
August 2011

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

J Med Genet 2011 Aug 28;48(8):513-9. Epub 2011 Jun 28.

Medical Department, Campus Innenstadt, Klinikum der Universität, Munich, Germany; MGZ-Center of Medical Genetics, Munich, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2011-100050DOI Listing
August 2011

Primary mucinous adenocarcinoma of the vermiform appendix with high grade microsatellite instability.

J Cancer 2011 23;2:302-6. Epub 2011 May 23.

1. Department of General Surgery, Klinikum München-Harlaching, Munich, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119391PMC
http://dx.doi.org/10.7150/jca.2.302DOI Listing
July 2011

First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.

Eur J Cancer 2011 May 30;47(7):1046-55. Epub 2010 Dec 30.

University Hospital of the Ludwig-Maximilians-University, Campus Innenstadt, Ziemssenstr. 1, 80336 Munich, Germany.

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http://dx.doi.org/10.1016/j.ejca.2010.11.016DOI Listing
May 2011

Laminopathy presenting as familial atrial fibrillation.

Int J Cardiol 2010 Nov 15;145(2):394-396. Epub 2010 May 15.

Department of Medicine I, Klinikum Grosshadern of the Ludwig Maximilians University of Munich, Germany.

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http://dx.doi.org/10.1016/j.ijcard.2010.04.024DOI Listing
November 2010

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

J Neurol 2010 Sep 20;257(9):1517-23. Epub 2010 Apr 20.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians University, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-010-5565-9DOI Listing
September 2010

Single cell analysis of mutations in the APC gene.

Fetal Diagn Ther 2009 13;26(3):148-56. Epub 2009 Oct 13.

Helmholtz Zentrum Munich, German Research Center for Environmental Health, Institute of Radiation Protection, Neuherberg, Germany.

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http://dx.doi.org/10.1159/000248721DOI Listing
March 2010

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.

Hum Mol Genet 2009 May 16;18(9):1590-9. Epub 2009 Feb 16.

Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Germany.

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http://dx.doi.org/10.1093/hmg/ddp074DOI Listing
May 2009

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia.

J Neurol 2009 May 1;256(5):810-5. Epub 2009 Mar 1.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Ziemssenstr. 1a, Munich 80336, Germany.

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http://dx.doi.org/10.1007/s00415-009-5023-8DOI Listing
May 2009

Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer.

Eur J Gastroenterol Hepatol 2008 Nov;20(11):1101-5

Department of Internal Medicine, Campus Innenstadt, University Hospital, Ludwig-Maximilians-University, Munich, Germany.

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http://pdfs.journals.lww.com/eurojgh/2008/11000/Report_on_de
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http://dx.doi.org/10.1097/MEG.0b013e328305e185DOI Listing
November 2008

The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.

Neuromuscul Disord 2008 Jul 30;18(7):553-6. Epub 2008 Jun 30.

Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich, Ziemssenstr. 1, 80336 Munich, Germany.

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http://dx.doi.org/10.1016/j.nmd.2008.05.002DOI Listing
July 2008

Intrafamilial variability in fragile X-associated tremor/ataxia syndrome.

Mov Disord 2006 Jan;21(1):98-102

Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany.

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http://dx.doi.org/10.1002/mds.20673DOI Listing
January 2006