Publications by authors named "Susanne Bens"

54Publications

Non-leukemic pediatric mixed phenotype acute leukemia/lymphoma: Genomic characterization and clinical outcome in a prospective trial for pediatric lymphoblastic lymphoma.

Genes Chromosomes Cancer 2019 06 21;58(6):365-372. Epub 2019 Jan 21.

Department of Pathology, Hematopathology Section and Lymph Node Registry, University Hospital Schleswig-Holstein, Campus Kiel/Christian-Albrechts University, Kiel, Germany.

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http://dx.doi.org/10.1002/gcc.22726DOI Listing
June 2019

Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge.

Clin Epigenetics 2017 13;9:111. Epub 2017 Oct 13.

Institute of Human Genetics, University of Ulm & Ulm University Hospital, Albert-Einstein-Allee 11, D-89081 Ulm, Germany.

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http://dx.doi.org/10.1186/s13148-017-0410-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640928PMC
May 2018

MYC expression and translocation analyses in low-grade and transformed follicular lymphoma.

Histopathology 2017 Dec 17;71(6):960-971. Epub 2017 Oct 17.

Department of Haematology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.

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http://doi.wiley.com/10.1111/his.13316
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http://dx.doi.org/10.1111/his.13316DOI Listing
December 2017

Transient spontaneous remission in congenital MLL-AF10 rearranged acute myeloid leukemia presenting with cardiorespiratory failure and meconium ileus.

Mol Cell Pediatr 2016 Dec 29;3(1):30. Epub 2016 Aug 29.

Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Duesseldorf, Germany.

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http://dx.doi.org/10.1186/s40348-016-0061-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002396PMC
December 2016

Atypical teratoid/rhabdoid tumor arising in a malignant glioma.

Pediatr Blood Cancer 2017 01 29;64(1):96-99. Epub 2016 Jul 29.

2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.

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http://dx.doi.org/10.1002/pbc.26173DOI Listing
January 2017

PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?

Birth Defects Res A Clin Mol Teratol 2016 Aug 25;106(8):724-8. Epub 2016 May 25.

Institute of Human Genetics, Christian-Albrechts-University Kiel, Kiel, Germany.

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http://dx.doi.org/10.1002/bdra.23521DOI Listing
August 2016

Identification of ZCCHC8 as fusion partner of ROS1 in a case of congenital glioblastoma multiforme with a t(6;12)(q21;q24.3).

Genes Chromosomes Cancer 2016 09 23;55(9):677-87. Epub 2016 Jun 23.

Cytogenetics Laboratory, Genetics Department, Garrahan Pediatrics Hospital, Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/gcc.22369DOI Listing
September 2016

The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome.

Epigenomics 2015 Oct 6;7(7):1089-97. Epub 2015 Nov 6.

Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

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http://dx.doi.org/10.2217/epi.15.73DOI Listing
October 2015

NOTCH1, TP53, and MAP2K1 Mutations in Splenic Diffuse Red Pulp Small B-cell Lymphoma Are Associated With Progressive Disease.

Am J Surg Pathol 2016 Feb;40(2):192-201

*Hospital Clinic, Hematopathology Unit†Department of Anatomic Pathology, Universitat de Barcelona‡Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain§Pathology and Cytopathology Department, Hospital Base Puerto Montt, Puerto Montt, Chile∥Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany¶Royal Marsden Hospital, London, UK.

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http://dx.doi.org/10.1097/PAS.0000000000000523DOI Listing
February 2016

Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.

Eur J Med Genet 2015 Aug 21;58(8):419-25. Epub 2015 May 21.

Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.05.001DOI Listing
August 2015

A familial disorder of altered DNA-methylation.

J Med Genet 2014 Jun 10;51(6):407-12. Epub 2014 Apr 10.

Institute of Human Genetics, University Hospital Schleswig-Holstein Campus Kiel/Christian-Albrechts University Kiel, Kiel, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2013-102149DOI Listing
June 2014

Clinical phenotypes of MAGEL2 mutations and deletions.

Orphanet J Rare Dis 2014 Mar 25;9:40. Epub 2014 Mar 25.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.1186/1750-1172-9-40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987887PMC
March 2014

Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related.

Eur J Hum Genet 2014 Sep 26;22(9). Epub 2014 Feb 26.

1] Faculty of Medicine, University of Southampton, Southampton, UK [2] Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, UK.

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http://dx.doi.org/10.1038/ejhg.2014.27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135418PMC
September 2014

Array-based DNA methylation profiling in male infertility reveals allele-specific DNA methylation in PIWIL1 and PIWIL2.

Fertil Steril 2014 Apr 10;101(4):1097-1103.e1. Epub 2014 Feb 10.

Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2013.12.054DOI Listing
April 2014

Frequency and characterization of DNA methylation defects in children born SGA.

Eur J Hum Genet 2013 Aug 12;21(8):838-43. Epub 2012 Dec 12.

Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.

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http://dx.doi.org/10.1038/ejhg.2012.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722674PMC
August 2013

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

Am J Med Genet A 2012 Nov 17;158A(11):2941-5. Epub 2012 Sep 17.

Pediatric Orthopedics Service, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.35618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477260PMC
November 2012

Isolated trisomy 7q21.2-31.31 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10.

Mol Cytogenet 2011 Dec 5;4:28. Epub 2011 Dec 5.

Institute of Human Genetics, Christian-Albrechts-University of Kiel, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller-Str.3, Haus 10, Kiel, Germany.

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http://molecularcytogenetics.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/1755-8166-4-28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3261807PMC
December 2011

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation.

Eur J Med Genet 2011 Sep-Oct;54(5):e501-4. Epub 2011 Jun 7.

Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Campus Kiel, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2011.05.004DOI Listing
December 2011

Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.

J Clin Endocrinol Metab 2010 Mar 15;95(3):1301-8. Epub 2010 Jan 15.

Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Schleswig- Holstein, Schwanenweg 20, D-24105 Kiel, Germany.

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http://dx.doi.org/10.1210/jc.2009-1176DOI Listing
March 2010

Angiogenic factors in patients with current major depressive disorder comorbid with borderline personality disorder.

Psychoneuroendocrinology 2009 Apr 4;34(3):353-7. Epub 2008 Dec 4.

Department of Psychiatry, Social Psychiatry and Psychotherapy, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany.

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http://dx.doi.org/10.1016/j.psyneuen.2008.09.016DOI Listing
April 2009