Publications by authors named "Erdmute Kunstmann"

34Publications

New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.

J Clin Med 2020 Jul 9;9(7). Epub 2020 Jul 9.

Department of Cardiovascular Genetics, Comprehensive Heart Failure Center (CHFC) and Department of Medicine I, University Clinic Würzburg, 97078 Würzburg, Germany.

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http://dx.doi.org/10.3390/jcm9072168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408654PMC
July 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

Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia.

J Clin Invest 2017 Jun 24;127(6):2148-2158. Epub 2017 Apr 24.

Orthopedic Center of Musculoskeletal Research, Orthopedic Department, University of Würzburg, Würzburg, Germany.

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http://dx.doi.org/10.1172/JCI83731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451251PMC
June 2017

Low-energy trauma-induced intercondylar femoral fracture.

Clin Cases Miner Bone Metab 2016 May-Aug;13(2):151-153. Epub 2016 Oct 5.

Department of Rheumatology, Immunology and Allergology, Inselspital Bern, Bern, Switzerland.

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http://dx.doi.org/10.11138/ccmbm/2016.13.2.151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119715PMC
October 2016

Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex.

GMS Ophthalmol Cases 2016 2;6:Doc09. Epub 2016 Sep 2.

University Wuerzburg, Department of Ophthalmology, Wuerzburg, Germany.

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http://dx.doi.org/10.3205/oc000046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5039348PMC
September 2016

Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

Muscle Nerve 2017 May 13;55(5):752-755. Epub 2017 Feb 13.

Department of Neurology, University Hospital Würzburg, Josef-Schneider-Strasse 11, 97080 Würzburg, Germany.

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http://dx.doi.org/10.1002/mus.25410DOI Listing
May 2017

Rare copy number variants are a common cause of short stature.

PLoS Genet 2013 14;9(3):e1003365. Epub 2013 Mar 14.

Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.

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http://dx.doi.org/10.1371/journal.pgen.1003365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597495PMC
June 2013

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome.

Eur J Med Genet 2012 Mar 31;55(3):211-5. Epub 2012 Jan 31.

Center for Human Genetics and Laboratory Medicine Dr. Klein and Dr. Rost, Martinsried, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2012.01.011DOI Listing
March 2012

Psychological impact of genetic counseling for hereditary nonpolyposis colorectal cancer: the role of cancer history, gender, age, and psychological distress.

Genet Test Mol Biomarkers 2011 Apr 31;15(4):219-25. Epub 2010 Dec 31.

Department of Medical Psychology and Medical Sociology, Medical Faculty, Ruhr-University of Bochum, Bochum, Germany.

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http://dx.doi.org/10.1089/gtmb.2010.0165DOI Listing
April 2011

Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993-2004).

Eur J Hum Genet 2009 Mar 10;17(3):295-300. Epub 2008 Sep 10.

Department of Human Genetics, Ruhr-University of Bochum, Bochum, Germany.

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http://dx.doi.org/10.1038/ejhg.2008.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986171PMC
March 2009

Genetic counseling for the public?

Community Genet 2006 ;9(1):62-6

Department of Human Genetics, Ruhr University, Bochum, Germany.

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http://dx.doi.org/10.1159/000090695DOI Listing
June 2006

HNPCC: six new pathogenic mutations.

BMC Med Genet 2004 Jun 24;5:16. Epub 2004 Jun 24.

Human Genetics, University of Bochum, Bochum, Germany.

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http://dx.doi.org/10.1186/1471-2350-5-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC446196PMC
June 2004

New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes.

Hum Genet 2004 Apr 14;114(5):468-77. Epub 2004 Feb 14.

Department of Human Genetics, Ruhr University, Universitätstrasse 150, 44801 Bochum, Germany.

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http://dx.doi.org/10.1007/s00439-004-1092-zDOI Listing
April 2004

In the European population HLA-class II genes are not associated with Helicobacter pylori infection.

Eur J Gastroenterol Hepatol 2002 Jan;14(1):49-53

Department of Molecular Human Genetics, Ruhr-University, Bochum, Germany.

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http://dx.doi.org/10.1097/00042737-200201000-00009DOI Listing
January 2002