Search Results - Ullmann, Reinhard

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  1. 1
    CGHPRO – A comprehensive data analysis tool for array CGH

    CGHPRO – A comprehensive data analysis tool for array CGH by Chen, Wei, Erdogan, Fikret, Ropers, H-Hilger, Lenzner, Steffen, Ullmann, Reinhard

    Published 2005
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  2. 2
    A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

    A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring by Rump, Andreas, Hildebrand, Laura, Tzschach, Andreas, Ullmann, Reinhard, Schrock, Evelin, Mitter, Diana

    Published 2013
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  3. 3
    GenomeCAT: a versatile tool for the analysis and integrative visualization of DNA copy number variants

    GenomeCAT: a versatile tool for the analysis and integrative visualization of DNA copy number variants by Tebel, Katrin, Boldt, Vivien, Steininger, Anne, Port, Matthias, Ebert, Grit, Ullmann, Reinhard

    Published 2017
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  4. 4
    Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up

    Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up by Jun, Kyung Ran, Ullmann, Reinhard, Khan, Saadullah, Layman, Lawrence C, Kim, Hyung-Goo

    Published 2014
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  5. 5
    X-ray irradiation induces subtle changes in the genome-wide distribution of DNA hydroxymethylation with opposing trends in genic and intergenic regions

    X-ray irradiation induces subtle changes in the genome-wide distribution of DNA hydroxymethylation with opposing trends in genic and intergenic regions by Becker, Benjamin V., Kaatsch, Leonhard, Obermair, Richard, Schrock, Gerrit, Port, Matthias, Ullmann, Reinhard

    Published 2019
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  6. 6
    Pre-Exposure Gene Expression in Baboons with and without Pancytopenia after Radiation Exposure

    Pre-Exposure Gene Expression in Baboons with and without Pancytopenia after Radiation Exposure by Port, Matthias, Hérodin, Francis, Valente, Marco, Drouet, Michel, Ullmann, Reinhard, Majewski, Matthäus, Abend, Michael

    Published 2017
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  7. 7
    Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

    Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions by Mitter, Diana, Ullmann, Reinhard, Muradyan, Artur, Klein-Hitpaß, Ludger, Kanber, Deniz, Õunap, Katrin, Kaulisch, Marc, Lohmann, Dietmar

    Published 2011
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  8. 8
    A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

    A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH by Klopocki, Eva, Graul-Neumann, Luitgard M., Grieben, Ulrike, Tönnies, Holger, Ropers, Hans-Hilger, Horn, Denise, Mundlos, Stefan, Ullmann, Reinhard

    Published 2007
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  9. 9
    Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia

    Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia by Bokemeyer, Almut, Eckert, Cornelia, Meyr, Franziska, Koerner, Gabriele, von Stackelberg, Arend, Ullmann, Reinhard, Türkmen, Seval, Henze, Günter, Seeger, Karl

    Published 2014
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  10. 10
    MicroRNA Expression for Early Prediction of Late Occurring Hematologic Acute Radiation Syndrome in Baboons

    MicroRNA Expression for Early Prediction of Late Occurring Hematologic Acute Radiation Syndrome in Baboons by Port, Matthias, Herodin, Francis, Valente, Marco, Drouet, Michel, Ullmann, Reinhard, Doucha-Senf, Sven, Lamkowski, Andreas, Majewski, Matthäus, Abend, Michael

    Published 2016
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  11. 11
    Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene

    Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene by Bhagavath, Bala, Layman, Lawrence C., Ullmann, Reinhard, Shen, Yiping, Ha, Kyungsoo, Rehman, Khurram, Looney, Stephen, McDonough, Paul G., Kim, Hyung-Goo, Carr, Bruce R.

    Published 2014
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  12. 12
    Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development

    Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and he... by Zhang, Litu, Tümer, Zeynep, Møllgård, Kjeld, Barbi, Gotthold, Rossier, Eva, Bendsen, Eske, Møller, Rikke Steensbjerre, Ullmann, Reinhard, He, Jian, Papadopoulos, Nickolas, Tommerup, Niels, Larsen, Lars Allan

    Published 2009
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  13. 13
    Genomic Adaption and Mutational Patterns in a HaCaT Subline Resistant to Alkylating Agents and Ionizing Radiation

    Genomic Adaption and Mutational Patterns in a HaCaT Subline Resistant to Alkylating Agents and Ionizing Radiation by Ullmann, Reinhard, Becker, Benjamin Valentin, Rothmiller, Simone, Schmidt, Annette, Thiermann, Horst, Kaatsch, Hanns Leonhard, Schrock, Gerrit, Müller, Jessica, Jakobi, Julia, Obermair, Richard, Port, Matthias, Scherthan, Harry

    Published 2021
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  14. 14
    Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

    Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly by Møller, Rikke S., Kübart, Sabine, Hoeltzenbein, Maria, Heye, Babett, Vogel, Ida, Hansen, Christian P., Menzel, Corinna, Ullmann, Reinhard, Tommerup, Niels, Ropers, Hans-Hilger, Tümer, Zeynep, Kalscheuer, Vera M.

    Published 2008
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  15. 15
    Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2

    Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 by Jakobsen, Linda P, Ullmann, Reinhard, Christensen, Steen B, Jensen, Karl Erik, Mølsted, Kirsten, Henriksen, Karen F, Hansen, Claus, Knudsen, Mary A, Larsen, Lars A, Tommerup, Niels, Tümer, Zeynep

    Published 2007
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  16. 16
    Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

    Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 by Kahrizi, Kimia, Hu, Cougar Hao, Garshasbi, Masoud, Abedini, Seyedeh Sedigheh, Ghadami, Shirin, Kariminejad, Roxana, Ullmann, Reinhard, Chen, Wei, Ropers, H-Hilger, Kuss, Andreas W, Najmabadi, Hossein, Tzschach, Andreas

    Published 2011
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  17. 17
    Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

    Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11 by Tzschach, Andreas, Bisgaard, Anne-Marie, Kirchhoff, Maria, Graul-Neumann, Luitgard M, Neitzel, Heidemarie, Page, Stephanie, Ahmed, Alischo, Müller, Ines, Erdogan, Fikret, Ropers, Hans-Hilger, Kalscheuer, Vera M, Ullmann, Reinhard

    Published 2010
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  18. 18
    Genome-Wide Analysis of Interchromosomal Interaction Probabilities Reveals Chained Translocations and Overrepresentation of Translocation Breakpoints in Genes in a Cutaneous T-Cell Lymphoma Cell Line

    Genome-Wide Analysis of Interchromosomal Interaction Probabilities Reveals Chained Translocations and Overrepresentation of Translocation Breakpoints in Genes in a Cutaneous T-Cell... by Steininger, Anne, Ebert, Grit, Becker, Benjamin V., Assaf, Chalid, Möbs, Markus, Schmidt, Christian A., Grabarczyk, Piotr, Jensen, Lars R., Przybylski, Grzegorz K., Port, Matthias, Kuss, Andreas W., Ullmann, Reinhard

    Published 2018
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  19. 19
    Gene expression changes and DNA damage after ex vivo exposure of peripheral blood cells to various CT photon spectra

    Gene expression changes and DNA damage after ex vivo exposure of peripheral blood cells to various CT photon spectra by Kaatsch, Hanns Leonhard, Becker, Benjamin Valentin, Schüle, Simone, Ostheim, Patrick, Nestler, Kai, Jakobi, Julia, Schäfer, Barbara, Hantke, Thomas, Brockmann, Marc A., Abend, Michael, Waldeck, Stephan, Port, Matthias, Scherthan, Harry, Ullmann, Reinhard

    Published 2021
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  20. 20
    Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

    Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy by Mefford, Heather C. , Clauin, Séverine , Sharp, Andrew J. , Moller, Rikke S. , Ullmann, Reinhard , Kapur, Raj , Pinkel, Dan , Cooper, Gregory M. , Ventura, Mario , Ropers, H. Hilger , Tommerup, Niels , Eichler, Evan E. , Bellanne-Chantelot, Christine 

    Published 2007
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