Publications by authors named "Evelin Schrock"

99Publications

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Eur J Med Genet 2020 Oct 23;63(10):104019. Epub 2020 Jul 23.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307, Dresden, Germany; Klinik für angeborene Herzfehler und Kinderkardiologie, UKSH, Arnold-Heller-Straße 3, 24109, Kiel, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104019DOI Listing
October 2020

Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs.

Cancers (Basel) 2020 Jun 26;12(6). Epub 2020 Jun 26.

National Center for Tumor Diseases (NCT), Partner Site Dresden, D-01307 Dresden, Germany.

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http://dx.doi.org/10.3390/cancers12061696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352509PMC
June 2020

Metastatic adult pancreatoblastoma: Multimodal treatment and molecular characterization of a very rare disease.

Pancreatology 2020 Apr 29;20(3):425-432. Epub 2020 Feb 29.

Department of Translational Medical Oncology, National Center for Tumor Diseases (NCT) and DKFZ Dresden, Dresden, Germany; Center for Personalized Oncology, National Center for Tumor Diseases (NCT) Dresden and University Hospital Carl Gustav Carus Dresden at TU Dresden, Dresden, Germany; German Cancer Consortium (DKTK), Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.pan.2020.02.017DOI Listing
April 2020

Community-driven development of a modified progression-free survival ratio for precision oncology.

ESMO Open 2019 13;4(6):e000583. Epub 2019 Nov 13.

Department of Translational Medical Oncology, National Center for Tumor Diseases (NCT) Heidelberg and German Cancer Research Center (DKFZ), Heidelberg, Germany.

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http://dx.doi.org/10.1136/esmoopen-2019-000583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6863673PMC
June 2020

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion.

Ophthalmic Genet 2018 10 30;39(5):645-647. Epub 2018 Jul 30.

b Institut für Klinische Genetik , Technische Universität Dresden , Dresden , Germany.

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http://dx.doi.org/10.1080/13816810.2018.1502792DOI Listing
October 2018

Novel truncating PPM1D mutation in a patient with intellectual disability.

Eur J Med Genet 2019 Jan 11;62(1):70-72. Epub 2018 May 11.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstraße 74, 01307 Dresden, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.05.006DOI Listing
January 2019

Whole exome sequencing identifies mTOR and KEAP1 as potential targets for radiosensitization of HNSCC cells refractory to EGFR and β1 integrin inhibition.

Oncotarget 2018 Apr 6;9(26):18099-18114. Epub 2018 Apr 6.

OncoRay - National Center for Radiation Research in Oncology, Faculty of Medicine, Technische Universität Dresden, 01307 Dresden, Germany.

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http://dx.doi.org/10.18632/oncotarget.24266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915060PMC
April 2018

Chromosomal instability induced by increased BIRC5/Survivin levels affects tumorigenicity of glioma cells.

BMC Cancer 2017 12 28;17(1):889. Epub 2017 Dec 28.

Department of Neurosurgery, Section Experimental Neurosurgery/Tumor Immunology, University Hospital Carl Gustav Carus, TU Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

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https://bmccancer.biomedcentral.com/articles/10.1186/s12885-
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http://dx.doi.org/10.1186/s12885-017-3932-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5745881PMC
December 2017

BRCA1/2 missense mutations and the value of in-silico analyses.

Eur J Med Genet 2017 Nov 12;60(11):572-577. Epub 2017 Aug 12.

Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universität Dresden, Germany; National Center for Tumor Diseases (NCT), Partner Site Dresden, Germany; German Cancer Consortium (DKTK), Dresden and German Cancer Research Center (DKFZ), Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.08.005DOI Listing
November 2017

Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.

Am J Med Genet A 2017 Sep 4;173(9):2545-2550. Epub 2017 Aug 4.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38348DOI Listing
September 2017

Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.

Mol Diagn Ther 2017 10;21(5):539-545

Polo Scienze per Immagini, di Laboratorio e Infettivologiche, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario Agostino Gemelli, Largo Francesco Vito, 1-00168, Rome, Italy.

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http://dx.doi.org/10.1007/s40291-017-0288-6DOI Listing
October 2017

The contribution of homology arms to nuclease-assisted genome engineering.

Nucleic Acids Res 2017 Jul;45(13):8105-8115

Genomics, Biotechnology Center, Technische Universität Dresden, BioInnovationsZentrum, Tatzberg 47, Dresden 01307, Germany.

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http://dx.doi.org/10.1093/nar/gkx497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570031PMC
July 2017

Pierpont syndrome: report of a new patient.

Clin Dysmorphol 2017 Oct;26(4):205-208

aInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden bDepartment of Congenital Heart Disease and Pediatric Cardiology, Universitätsklinikum Schleswig-Holstein Kiel, Kiel cMitteldeutscher Praxisverbund Humangenetik, Praxis Erfurt, Erfurt, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000184DOI Listing
October 2017

Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome.

Breast Cancer Res Treat 2017 Jul 9;164(2):497-503. Epub 2017 May 9.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s10549-017-4275-8DOI Listing
July 2017

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

Arch Gynecol Obstet 2017 May 21;295(5):1227-1238. Epub 2017 Mar 21.

Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, Dresden, 01307, Germany.

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http://dx.doi.org/10.1007/s00404-017-4330-zDOI Listing
May 2017

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH.

Breast Cancer Res Treat 2016 Oct 31;159(3):585-90. Epub 2016 Aug 31.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

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http://dx.doi.org/10.1007/s10549-016-3956-zDOI Listing
October 2016

Janus face-like effects of Aurora B inhibition: antitumoral mode of action versus induction of aneuploid progeny.

Carcinogenesis 2016 10 11;37(10):993-1003. Epub 2016 Aug 11.

Department of Neurosurgery, Section of Experimental Neurosurgery/Tumor Immunology, University Hospital Carl Gustav Carus, TU Dresden, Fetscherstr. 74, 01307 Dresden, Germany, German Cancer Consortium (DKTK), partner site Dresden, German Cancer Research Center (DKFZ), 69121 Heidelberg, Germany and

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http://dx.doi.org/10.1093/carcin/bgw083DOI Listing
October 2016

Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.

Am J Med Genet A 2016 09 3;170(9):2394-9. Epub 2016 Jun 3.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37785DOI Listing
September 2016

An unusual case of Cowden syndrome associated with ganglioneuromatous polyposis.

Hered Cancer Clin Pract 2016 10;14:11. Epub 2016 May 10.

Department of Surgical Research, Technische Universität Dresden, Fetscherstr. 74, Dresden, 01307 Germany.

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http://dx.doi.org/10.1186/s13053-016-0051-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862217PMC
May 2016

An unusual phenotype of MEN1 syndrome with a SI-NEN associated with a deletion of the MEN1 gene.

Endocrinol Diabetes Metab Case Rep 2016 2;2016:160011. Epub 2016 Mar 2.

Department of Visceral Thoracic and Vascular Surgery, Philipps University Marburg , Baldingerstrasse35043, Marburg , Germany.

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http://dx.doi.org/10.1530/EDM-16-0011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828980PMC
April 2016

Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.

Clin Dysmorphol 2016 Jul;25(3):106-9

aInstitute for Clinical Genetics, Medical Faculty Carl Gustav Carus, Technical University of Dresden bUniversity Center for Rare Diseases, University Clinic Carl Gustav Carus, Dresden cMitteldeutscher Praxisverbund for Human Genetics, Practice in Meerane, Meerane, Germany.

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http://dx.doi.org/10.1097/MCD.0000000000000124DOI Listing
July 2016

An Epigenetic Reprogramming Strategy to Resensitize Radioresistant Prostate Cancer Cells.

Cancer Res 2016 05 16;76(9):2637-51. Epub 2016 Mar 16.

OncoRay-National Center for Radiation Research in Oncology, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden and Helmholtz-Zentrum Dresden-Rossendorf, Dresden, Germany. German Cancer Consortium (DKTK), Dresden, Germany. German Cancer Research Center (DKFZ), Heidelberg, Germany. Helmholtz-Zentrum Dresden-Rossendorf, Institute of Radiation Oncology, Dresden, Germany.

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http://cancerres.aacrjournals.org/content/early/2016/03/16/0
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http://cancerres.aacrjournals.org/content/early/2016/03/16/0
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http://cancerres.aacrjournals.org/cgi/doi/10.1158/0008-5472.
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http://dx.doi.org/10.1158/0008-5472.CAN-15-2116DOI Listing
May 2016

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Am J Med Genet A 2016 Jan 11;170A(1):94-102. Epub 2015 Sep 11.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, Technische Universitaet Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37378DOI Listing
January 2016

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.

Am J Med Genet A 2015 Nov 3;167A(11):2800-7. Epub 2015 Sep 3.

Institut f, ü, r Klinische Genetik, Medizinische Fakult, ä, t Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37266DOI Listing
November 2015

HBOC multi-gene panel testing: comparison of two sequencing centers.

Breast Cancer Res Treat 2015 Jul 29;152(1):129-136. Epub 2015 May 29.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1007/s10549-015-3429-9DOI Listing
July 2015

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Eur J Med Genet 2015 May 6;58(5):319-23. Epub 2015 Apr 6.

Institut fuer Klinische Genetik, Medizinische Fakultaet Carl Gustav Carus, TU Dresden, Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2015.03.005DOI Listing
May 2015

Survivin safeguards chromosome numbers and protects from aneuploidy independently from p53.

Mol Cancer 2014 May 9;13:107. Epub 2014 May 9.

Department of Neurosurgery, Section Experimental Neurosurgery/Tumor Immunology, University Hospital Carl Gustav Carus, TU Dresden, Fetscherstr, 74, 01307 Dresden, Germany.

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http://dx.doi.org/10.1186/1476-4598-13-107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4041913PMC
May 2014

MYCN and survivin cooperatively contribute to malignant transformation of fibroblasts.

Carcinogenesis 2014 Feb 15;35(2):479-88. Epub 2013 Oct 15.

Department of Paediatrics and Adolescent Medicine, University Medical Centre Ulm, Ulm89075, Germany.

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http://dx.doi.org/10.1093/carcin/bgt341DOI Listing
February 2014

Severe intellectual disability, West syndrome, Dandy-Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3.

Am J Med Genet A 2013 Dec 16;161A(12):3144-9. Epub 2013 Aug 16.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36155DOI Listing
December 2013

Side population in human glioblastoma is non-tumorigenic and characterizes brain endothelial cells.

Brain 2013 May 4;136(Pt 5):1462-75. Epub 2013 Mar 4.

NorLux Neuro-Oncology Laboratory, Centre de Recherche Public de la Santé (CRP-Santé), Department of Oncology NorLux Neuro-Oncology Laboratory 84, Val Fleuri, L- 1526 Luxembourg.

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http://dx.doi.org/10.1093/brain/awt025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634193PMC
May 2013

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.

Eur J Hum Genet 2013 Aug 12;21(8):887-90. Epub 2012 Dec 12.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1038/ejhg.2012.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722677PMC
August 2013

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.

BMC Cancer 2012 Nov 20;12:531. Epub 2012 Nov 20.

Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1186/1471-2407-12-531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537684PMC
November 2012

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.

Eur J Hum Genet 2013 Jan 6;21(1):112-4. Epub 2012 Jun 6.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1038/ejhg.2012.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522202PMC
January 2013

Glioblastomas with oligodendroglial component-common origin of the different histological parts and genetic subclassification.

Cell Oncol (Dordr) 2011 Jun 3;34(3):261-75. Epub 2011 May 3.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany.

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http://dx.doi.org/10.1007/s13402-011-0034-8DOI Listing
June 2011

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Am J Med Genet A 2010 Nov;152A(11):2908-11

Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.33692DOI Listing
November 2010

Glioblastomas with oligodendroglial component - common origin of the different histological parts and genetic subclassification.

Anal Cell Pathol (Amst) 2010 ;33(1):37-54

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.3233/ACP-CLO-2010-0530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4605661PMC
February 2011

Three-dimensional cell growth confers radioresistance by chromatin density modification.

Cancer Res 2010 May 4;70(10):3925-34. Epub 2010 May 4.

OncoRay-Center for Radiation Research in Oncology, Department of Radiation Oncology, Medical Faculty Carl Gustav Carus, Dresden University of Technology, Dresden, Germany.

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http://dx.doi.org/10.1158/0008-5472.CAN-09-3848DOI Listing
May 2010

1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.

Eur J Med Genet 2009 Mar-Jun;52(2-3):128-30. Epub 2009 Mar 17.

Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2009.03.002DOI Listing
September 2009

Telomere dysfunction and DNA-PKcs deficiency: characterization and consequence.

Cancer Res 2009 Mar 24;69(5):2100-7. Epub 2009 Feb 24.

Department of Environmental and Radiological Health Sciences, Colorado State University, Fort Collins, Colorado 80523-1618, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-08-2854DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3595006PMC
March 2009

Identification of the human/mouse syntenic common fragile site FRA7K/Fra12C1--relation of FRA7K and other human common fragile sites on chromosome 7 to evolutionary breakpoints.

Int J Cancer 2007 Jan;120(1):48-54

Institute of Clinical Genetics, Medical Faculty "Carl Gustav Carus," University of Technology, 01307 Dresden, Germany.

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http://dx.doi.org/10.1002/ijc.22049DOI Listing
January 2007

Common fragile sites are conserved features of human and mouse chromosomes and relate to large active genes.

Genome Res 2006 Oct 5;16(10):1222-30. Epub 2006 Sep 5.

Institute of Clinical Genetics, Medical Faculty Carl Gustav Carus, University of Technology, 01307 Dresden, Germany.

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http://www.genome.org/cgi/doi/10.1101/gr.5335506
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http://dx.doi.org/10.1101/gr.5335506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1581431PMC
October 2006

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.

Eur J Med Genet 2005 Jul-Sep;48(3):328-38

Department of Clinical Genetics, University Medical Center Carl Gustav Carus, Fetscherstr. 74, D-01307 Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2005.04.024DOI Listing
November 2005

Cytogenetic characterization of a BCR-ABL transduced mouse cell line.

Cancer Genet Cytogenet 2005 Aug;161(1):51-6

Institute of Cell and Molecular Pathology, Hannover Medical School, Carl-Neuberg-Strasse 1, D-30625 Hannover, Germany.

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http://dx.doi.org/10.1016/j.cancergencyto.2004.12.021DOI Listing
August 2005

Recurrent chromosomal aberrations in INK4a/ARF defective primary lymphomas predict drug responses in vivo.

Oncogene 2005 Jun;24(26):4174-82

Institute of Clinical Genetics, Medical Faculty Carl Gustav Carus, University of Technology, 01307 Dresden, Germany.

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http://www.nature.com/articles/1208600
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http://dx.doi.org/10.1038/sj.onc.1208600DOI Listing
June 2005

High-resolution analysis of chromosomal imbalances using the Affymetrix 10K SNP genotyping chip.

Genomics 2005 Mar;85(3):392-400

Institute of Clinical Genetics, Medical Faculty Carl Gustav Carus, Fetscherstrasse 74, 01307 Dresden, Germany.

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http://dx.doi.org/10.1016/j.ygeno.2004.07.015DOI Listing
March 2005