檢索結果 - Ullmann, Reinhard

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

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

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

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

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

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

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

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

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

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

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

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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... 由 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

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Genomic Adaption and Mutational Patterns in a HaCaT Subline Resistant to Alkylating Agents and Ionizing Radiation 由 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

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Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly 由 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.

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Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 由 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

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

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Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11 由 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

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Genome-Wide Analysis of Interchromosomal Interaction Probabilities Reveals Chained Translocations and Overrepresentation of Translocation Breakpoints in Genes in a Cutaneous T-Cell... 由 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

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Gene expression changes and DNA damage after ex vivo exposure of peripheral blood cells to various CT photon spectra 由 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

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Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy 由 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 

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