Reinhard Ullmann

Reinhard Ullmann

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Reinhard Ullmann

Publications by authors named "Reinhard Ullmann"

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Gene expression changes in human iPSC-derived cardiomyocytes after X-ray irradiation.

Int J Radiat Biol 2018 12 24;94(12):1095-1103. Epub 2018 Sep 24.

a Bundeswehr Institute of Radiobiology affiliated to Ulm University , Munich , Germany.

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https://www.tandfonline.com/doi/full/10.1080/09553002.2018.1
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http://dx.doi.org/10.1080/09553002.2018.1516908DOI Listing
December 2018

Impact of Ionizing Radiation on Electrophysiological Behavior of Human-induced Ipsc-derived Cardiomyocytes on Multielectrode Arrays.

Health Phys 2018 07;115(1):21-28

Bundeswehr Institute of Radiobiology affiliated with Ulm University, Genomics II Department Head, Neuherbergstrasse 11, 80804, Munich, Germany.

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http://dx.doi.org/10.1097/HP.0000000000000817DOI Listing
July 2018

Generation of a human induced pluripotent stem cell (iPSC) line from a 51-year-old female with attention-deficit/hyperactivity disorder (ADHD) carrying a duplication of SLC2A3.

Stem Cell Res 2018 04 13;28:136-140. Epub 2018 Feb 13.

Division of Molecular Psychiatry, Center of Mental Health, University of Würzburg, Würzburg, Germany; Laboratory of Psychiatric Neurobiology, Institute of Molecular Medicine, Sechenov First Moscow State Medical University, Moscow, Russia; Department of Translational Neuroscience, School for Mental Health and Neuroscience (MHeNS), Maastricht University, Maastricht, The Netherlands. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18735061183004
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http://dx.doi.org/10.1016/j.scr.2018.02.005DOI Listing
April 2018

GenomeCAT: a versatile tool for the analysis and integrative visualization of DNA copy number variants.

BMC Bioinformatics 2017 Jan 6;18(1):19. Epub 2017 Jan 6.

Max Planck Institute for Molecular Genetics, 14195, Berlin, Germany.

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http://dx.doi.org/10.1186/s12859-016-1430-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217618PMC
January 2017

Inactivation of RUNX3/p46 Promotes Cutaneous T-Cell Lymphoma.

J Invest Dermatol 2016 11 1;136(11):2287-2296. Epub 2016 Jul 1.

Department of Dermatology, Charité - Universitaetsmedizin Berlin, Berlin, Germany; Institute of Pathology, Charité - Universitaetsmedizin Berlin, Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.05.126DOI Listing
November 2016

Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up.

Mol Cytogenet 2014 19;7:52. Epub 2014 Aug 19.

Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Institute of Molecular Medicine and Genetics, Medical College of Georgia, Georgia Regents University, 1120 15th Street, Augusta, Georgia.

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http://dx.doi.org/10.1186/1755-8166-7-52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188067PMC
October 2014

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.

Mol Cell Endocrinol 2014 Aug 4;393(1-2):1-7. Epub 2014 Jun 4.

Division of Reproductive Endocrinology and Infertility, Department of OB/GYN, University of Texas Southwestern Medical Center, Dallas, TX 75235, United States.

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http://dx.doi.org/10.1016/j.mce.2014.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4332518PMC
August 2014

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

Breakpoint characterization of the der(19)t(11;19)(q13;p13) in the ovarian cancer cell line SKOV-3.

Genes Chromosomes Cancer 2013 May 30;52(5):512-22. Epub 2013 Jan 30.

Department of Obstetrics and Gynaecology, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.

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http://doi.wiley.com/10.1002/gcc.22048
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http://dx.doi.org/10.1002/gcc.22048DOI Listing
May 2013

Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.

Hum Genet 2013 Apr 18;132(4):461-71. Epub 2013 Jan 18.

Neuroscience Research Center, Charité CrossOver, Charité-Universitaetsmedizin Berlin, Campus Mitte, Charitéplatz 1, 10117 Berlin, Germany.

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http://dx.doi.org/10.1007/s00439-012-1260-5DOI Listing
April 2013

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.

Front Genet 2013 16;4:54. Epub 2013 Apr 16.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark ; Section for Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark.

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http://dx.doi.org/10.3389/fgene.2013.00054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627139PMC
April 2013

Christianson syndrome in a patient with an interstitial Xq26.3 deletion.

Am J Med Genet A 2011 Nov 19;155A(11):2771-4. Epub 2011 Sep 19.

Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.34230DOI Listing
November 2011

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.

Eur J Med Genet 2011 Jul-Aug;54(4):e383-8. Epub 2011 Mar 21.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110004
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http://dx.doi.org/10.1016/j.ejmg.2011.03.008DOI Listing
October 2011

Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.

Eur J Hum Genet 2011 Sep 20;19(9):947-58. Epub 2011 Apr 20.

Institut für Humangenetik, Universitätsklinikum Essen, Philipp-Rosenthal-Straße 55, Leipzig, Germany.

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http://dx.doi.org/10.1038/ejhg.2011.58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179359PMC
September 2011

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

Hum Mol Genet 2011 Jul 15;20(13):2585-90. Epub 2011 Apr 15.

Department of Pediatrics and Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburgerplatz 1, Berlin, Germany.

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http://dx.doi.org/10.1093/hmg/ddr158DOI Listing
July 2011

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

Am J Med Genet B Neuropsychiatr Genet 2011 Mar 13;156(2):204-14. Epub 2011 Jan 13.

SA Pathology, Women's and Children's Hospital, Adelaide, South Australia 5006, Australia.

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http://doi.wiley.com/10.1002/ajmg.b.31157
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http://dx.doi.org/10.1002/ajmg.b.31157DOI Listing
March 2011

500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip.

Am J Med Genet A 2011 Mar 22;155A(3):652-5. Epub 2011 Feb 22.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Panum Institute, Copenhagen, Denmark.

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http://doi.wiley.com/10.1002/ajmg.a.33855
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http://dx.doi.org/10.1002/ajmg.a.33855DOI Listing
March 2011

A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1.

Behav Genet 2011 Jan 27;41(1):125-33. Epub 2010 Aug 27.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.

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http://dx.doi.org/10.1007/s10519-010-9389-2DOI Listing
January 2011

11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features.

Am J Med Genet A 2010 Oct;152A(10):2651-5

Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.

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http://dx.doi.org/10.1002/ajmg.a.33623DOI Listing
October 2010

Positioning of necrotic lobular intraepithelial neoplasias (LIN, grade 3) within the sequence of breast carcinoma progression.

Genes Chromosomes Cancer 2010 May;49(5):463-70

Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin, Germany.

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http://dx.doi.org/10.1002/gcc.20756DOI Listing
May 2010

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

Am J Med Genet A 2009 Oct;149A(10):2236-40

Institute of Human Genetics, Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32993DOI Listing
October 2009

Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young.

J Clin Endocrinol Metab 2009 Jul 5;94(7):2658-64. Epub 2009 May 5.

Department of Pediatric Endocrinology and Diabetes, Charité Campus Virchow, 13353 Berlin, Germany.

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http://dx.doi.org/10.1210/jc.2008-2189DOI Listing
July 2009

Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature.

Am J Med Genet A 2009 Feb;149A(2):242-5

Institute of Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32637DOI Listing
February 2009

A cryptic unbalanced translocation resulting in del 13q and dup 15q.

Am J Med Genet A 2008 Oct;146A(19):2570-3

Department of Medical Genetics and Child Development, University of Pécs, Hungary.

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http://dx.doi.org/10.1002/ajmg.a.32394DOI Listing
October 2008

An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors.

Arch Pathol Lab Med 2008 Oct;132(10):1557-61

Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1043/1543-2165(2008)132[1557:AIAFAT]2.0.CO;2DOI Listing
October 2008

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

Eur J Pediatr 2008 Aug 12;167(8):903-8. Epub 2007 Oct 12.

Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://dx.doi.org/10.1007/s00431-007-0616-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757600PMC
August 2008

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

Am J Hum Genet 2008 May 10;82(5):1165-70. Epub 2008 Apr 10.

Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.

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http://dx.doi.org/10.1016/j.ajhg.2008.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427221PMC
May 2008

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Eur J Hum Genet 2008 Mar 9;16(3):312-9. Epub 2008 Jan 9.

Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201985DOI Listing
March 2008

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.

Hum Mol Genet 2008 Feb 6;17(3):458-65. Epub 2007 Nov 6.

Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1093/hmg/ddm323DOI Listing
February 2008

Characterization of interstitial Xp duplications in two families by tiling path array CGH.

Am J Med Genet A 2008 Jan;146A(2):197-203

Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.32070DOI Listing
January 2008

Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family.

Am J Med Genet A 2007 Nov;143A(22):2716-21

Department of Cellular and Molecular Medicine, Panum Institute, Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen, Denmark.

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http://dx.doi.org/10.1002/ajmg.a.32011DOI Listing
November 2007

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

Eur J Med Genet 2007 Jul-Aug;50(4):243-55. Epub 2007 Apr 14.

Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK-2100 Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2007.03.004DOI Listing
September 2007

Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma.

Cancer Res 2007 Jan;67(1):408-16

Institut für Humangenetik, Institut für Zellbiologie, and Augenklinik, Universitätsklinikum Essen, Hufelandstrasse 55, D-45122 Essen, Germany.

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http://dx.doi.org/10.1158/0008-5472.CAN-06-1317DOI Listing
January 2007

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.

Eur J Hum Genet 2006 Dec 9;14(12):1274-9. Epub 2006 Aug 9.

Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1038/sj.ejhg.5201696DOI Listing
December 2006

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

Am J Med Genet A 2006 Apr;140(8):873-7

Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31163DOI Listing
April 2006

CGHPRO -- a comprehensive data analysis tool for array CGH.

BMC Bioinformatics 2005 Apr 5;6:85. Epub 2005 Apr 5.

Max-Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany.

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http://dx.doi.org/10.1186/1471-2105-6-85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1274268PMC
April 2005

Analysis of chromosome-11 aberrations in pulmonary and gastrointestinal carcinoids: an array comparative genomic hybridization-based study.

Virchows Arch 2004 Aug 3;445(2):151-9. Epub 2004 Jul 3.

Institute of Pathology, Medical School Graz, Austria.

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http://dx.doi.org/10.1007/s00428-004-1052-yDOI Listing
August 2004

Protein expression profiles in adenocarcinomas and squamous cell carcinomas of the lung generated using tissue microarrays.

J Pathol 2004 Jul;203(3):798-807

Institute of Pathology, Laboratories for Molecular Cytogenetics, Environmental and Respiratory Tract Pathology, University Medical School of Graz, Auenbruggerplatz 25, 8036 Graz, Austria.

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http://doi.wiley.com/10.1002/path.1584
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http://dx.doi.org/10.1002/path.1584DOI Listing
July 2004

Bronchiolar columnar cell dysplasia--genetic analysis of a novel preneoplastic lesion of peripheral lung.

Virchows Arch 2003 May 9;442(5):429-36. Epub 2003 Apr 9.

Laboratory of Molecular Cytogenetics, Institute of Pathology, Auenbruggerplatz 25, 8036, Graz, Austria.

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http://link.springer.de/link/service/journals/00428/contents
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http://dx.doi.org/10.1007/s00428-003-0797-zDOI Listing
May 2003

The position of pulmonary carcinoids within the spectrum of neuroendocrine tumors of the lung and other tissues.

Genes Chromosomes Cancer 2002 May;34(1):78-85

Institute of Pathology, Medical School Graz, Graz, Austria.

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May 2002