Browsing Universitätsbibliographie by Author "Grasshoff, Ute"

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Browsing Universitätsbibliographie by Author "Grasshoff, Ute"

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  • 12q24.33 Deletion: Report of a Patient With Intellectual Disability and Review of the Literature
    Kehrer, Martin; Singer, Sylke; Grasshoff, Ute; Schaeferhoff, Karin; Bonin, Michael; Riess, Olaf; Schoening, Martin; Tzschach, Andreas (2013)
  • A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL
    Haemmerling, Susanne; Behnisch, Wolfgang; Doerks, Tobias; Korbel, Jan O.; Bork, Peer; Moog, Ute; Hentze, Sabine; Grasshoff, Ute; Bonin, Michael; Riess, Olaf; Janssen, Johannes W. G.; Jauch, Anna; Bartram, Claus R.; Reinhardt, Dirk; Koch, Karin A.; Bandapalli, Obul R.; Kulozik, Andreas E. (2012)
  • A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies
    Dufke, Andreas; Hoopmann, Markus; Waldmuller, Stephan; Prodan, Natalia Carmen; Beck-Woedl, Stefanie; Grasshoff, Ute; Heinrich, Tilman; Riess, Angelika; Kehrer, Martin; Falb, Ruth J.; Liebmann, Alexandra; Roggia, Cristiana; Stampfer, Miriam; Schadeck, Malou; Mueller, Amelie J.; Grimmel, Mona; Stoebe, Petra; Gauck, Darja; Buchert-Lo, Rebecca; Baumann, Sarah; Schaeferhoff, Karin; Bertrand, Miriam; Menden, Benita; Sturm, Marc; Schuetz, Leon; Riess, Olaf; Ossowski, Stephan; Haack, Tobias B.; Kagan, Karl Oliver (2022)
  • An early onset cone dystrophy due to CEP290 mutation: a case report
    Binder, Anastasia; Kohl, Susanne; Grasshoff, Ute; Schaeferhoff, Karin; Stingl, Katarina (2023)
  • Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
    Kuechler, Alma; Czeschik, Johanna Christina; Graf, Elisabeth; Grasshoff, Ute; Hueffmeier, Ulrike; Busa, Tiffany; Beck-Woedl, Stefanie; Faivre, Laurence; Riviere, Jean-Baptiste; Bader, Ingrid; Koch, Johannes; Reis, Andre; Hehr, Ute; Rittinger, Olaf; Sperl, Wolfgang; Haack, Tobias B.; Wieland, Thomas; Engels, Hartmut; Prokisch, Holger; Strom, Tim M.; Luedecke, Hermann-Josef; Wieczorek, Dagmar (2017)
  • Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
    Falb, Ruth J.; Mueller, Amelie J.; Klein, Wolfram; Grimmel, Mona; Grasshoff, Ute; Spranger, Stephanie; Stoebe, Petra; Gauck, Darja; Kuechler, Alma; Dikow, Nicola; Schwaibold, Eva M. C.; Schmidt, Christoph; Averdunk, Luisa; Buchert, Rebecca; Heinrich, Tilman; Prodan, Natalia; Park, Joohyun; Kehrer, Martin; Sturm, Marc; Kelemen, Olga; Hartmann, Silke; Horn, Denise; Emmerich, Dirk; Hirt, Nina; Neumann, Armin; Kristiansen, Glen; Gembruch, Ulrich; Haen, Susanne; Siebert, Reiner; Hentze, Sabine; Hoopmann, Markus; Ossowski, Stephan; Waldmueller, Stephan; Beck-Woedl, Stefanie; Glaeser, Dieter; Tekesin, Ismail; Distelmaier, Felix; Riess, Olaf; Kagan, Karl-Oliver; Dufke, Andreas; Haack, Tobias B. (2023)
  • Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
    Richard, Elodie M.; Bakhtiari, Somayeh; Marsh, Ashley P. L.; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M.; Guida, Brandon S.; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y.; Webster, Richard, I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H.; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S.; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; ManuelaMorleo; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A.; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G. Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementinac; Mancini, Cecilia; Sepulveda, Dianela Judith Claps; Mc Walter, Kirsty; Begtrup, Amber; Crunk, Amy; Sacoto, Maria J. Guillen; Person, Richard; Schnur, Rhonda E.; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K.; Marks, Warren A.; van Eyk, Clare L.; Webber, Dani L.; Corbett, Mark A.; Harper, Kelly; Berry, Jesia G.; Mac Lennan, Alastair H.; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M.; Hufnagel, Robert B.; Fahey, Michael C.; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M.; LRad, Aboulfaz; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B. (2021)
  • Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
    Begemann, Matthias; Spengler, Sabrina; Gogiel, Magdalena; Grasshoff, Ute; Bonin, Michael; Betz, Regina C.; Dufke, Andreas; Spier, Isabel; Eggermann, Thomas (2012)
  • Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients
    Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; van de Warrenburg, Bart; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; Koenig, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene; Synofzik, Matthis (2020)
  • Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
    Albuainain, Fatimah; Shi, Yuwei; Lor-Zade, Sarah; Hueffmeier, Ulrike; Pauly, Melissa; Reis, Andre; Faivre, Laurence; Maraval, Julien; Bruel, Ange-Line; Them, Frederic Tran Mau; Haack, Tobias B.; Grasshoff, Ute; Horber, Veronka; Schot, Rachel; van Slegtenhorst, Marjon; Wilke, Martina; Barakat, Tahsin Stefan (2024)
  • De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
    Park, Joohyun; Flores, Bianca R.; Scherer, Katalin; Kuepper, Hanna; Rossi, Mari; Rupprich, Katrin; Rautenberg, Maren; Deininger, Natalie; Weichselbaum, Annette; Grimm, Alexander; Sturm, Marc; Grasshoff, Ute; Delpire, Eric; Haack, Tobias B. (2020)
  • Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
    Weisschuh, Nicole; Mazzola, Pascale; Zuleger, Theresia; Schaeferhoff, Karin; Kuehlewein, Laura; Kortuem, Friederike; Witt, Dennis; Liebmann, Alexandra; Falb, Ruth; Pohl, Lisa; Reith, Milda; Stuehn, Lara G.; Bertrand, Miriam; Mueller, Amelie; Casadei, Nicolas; Kelemen, Olga; Kelbsch, Carina; Kernstock, Christoph; Richter, Paul; Sadler, Francoise; Demidov, German; Schuetz, Leon; Admard, Jakob; Sturm, Marc; Grasshoff, Ute; Tonagel, Felix; Heinrich, Tilman; Nasser, Fadi; Wissinger, Bernd; Ossowski, Stephan; Kohl, Susanne; Riess, Olaf; Stingl, Katarina; Haack, Tobias B. (2024)
  • First case report of malignant peritoneal mesothelioma and oral verrucous carcinoma in a patient with a germline PTEN mutation: a combination of extreme rare diseases with probable further implications
    Loeffler, Markus W.; Steinhilber, Julia; Hilke, Franz J.; Haen, Sebastian P.; Boesmueller, Hans; Montes-Mojarro, Ivonne-Aidee; Bonzheim, Irina; Staebler, Antje; Faust, Ulrike; Grasshoff, Ute; Koenigsrainer, Ingmar; Rammensee, Hans-Georg; Kanz, Lothar; Koenigsrainer, Alfred; Beckert, Stefan; Riess, Olaf; Schroeder, Christopher (2018)
  • Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
    Szakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Genevieve, David; Rouxel, Flavien; Morin, Denis; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley; Louie, Raymond; Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H.; Agre, Katherine E.; Jacquemont, Sebastien; Khadije, Jizi; Giltay, Jacques; van Gassen, Koen; Mero, Gabriella; Gerkes, Erica; Van Bon, Bregje W.; Rinne, Tuula; Pfundt, Rolph; Brunner, Han G.; Caluseriu, Oana; Grasshoff, Ute; Kehrer, Martin; Haack, Tobias B.; Khelifa, Melik Malek; Bergmann, Anke Katharina; Cueto-Gonzalez, Anna Maria; Martorell, Ariadna Campos; Ramachandrappa, Shwetha; Sawyer, Lindsey B.; Fasel, Pascale; Braun, Dominique; Isis, Atallah; Superti-Furga, Andrea; McNiven, Vanda; Chitayat, David; Ahmed, Syed Anas; Brennenstuhl, Heiko; Schwaibolf, Eva M. C.; Battisti, Gladys; Parmentier, Benoit; Stevens, Servi J. C. (2024)
  • Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany
    Hinreiner, Sophie; Wieczorek, Dagmar; Mueller, Dietmar; Roedl, Tanja; Thiel, Gundula; Grasshoff, Ute; Chaoui, Rabih; Hehr, Ute (2018)
  • Genome-wide UPD screening in patients with intellectual disability
    Schroeder, Christopher; Ekici, Arif Buelent; Moog, Ute; Grasshoff, Ute; Mau-Holzmann, Ulrike; Sturm, Marc; Vosseler, Vanessa; Poths, Sven; Rappold, Gudrun; Riess, Angelika; Riess, Olaf; Dufke, Andreas; Bonini, Michael (2014)
  • Genotype-phenotype correlations in RHOBTB2- associated neurodevelopmental disorders
    Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B.; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortuem, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Bakhtiari, Somayeh; Kruer, Michael C.; Salih, Mustafa A.; Kuechler, Alma; Muller, Eric A.; Blocker, Karli; Kuismin, Outi; Park, Kristen L.; Kochhar, Aaina; Brown, Kathleen; Ramanathan, Subhadra; Clark, Robin D.; Elgizouli, Magdeldin; Melikishvili, Gia; Tabatadze, Nazhi; Stark, Zornitza; Mirzaa, Ghayda M.; Ong, Jinfon; Grasshoff, Ute; Bevot, Andrea; von Wintzingerode, Lydia; Jamra, Rami A.; Hennig, Yvonne; Goldenberg, Paula; Al Alam, Chadi; Charif, Majida; Boulouiz, Redouane; Bellaoui, Mohammed; Amrani, Rim; Al Mutairi, Fuad; Tamim, Abdullah M.; Abdulwahab, Firdous; Alkuraya, Fowzan S.; Khouj, Ebtissal M.; Alvi, Javeria R.; Sultan, Tipu; Hashemi, Narges; Karimiani, Ehsan G.; Ashrafzadeh, Farah; Imannezhad, Shima; Efthymiou, Stephanie; Houlden, Henry; Sticht, Heinrich; Zweier, Christiane (2023)
  • GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations
    Hauf, K.; Barsch, L.; Bauer, D.; Buchert, R.; Armbruster, A.; Frauenfeld, L.; Grasshoff, U.; Eulenburg, V (2020)
  • Interstitial 3p25.3-p26.1 Deletion in a Patient With Intellectual Disability
    Riess, Angelika; Grasshoff, Ute; Schaeferhoff, Karin; Bonin, Michael; Riess, Olaf; Horber, Veronka; Tzschach, Andreas (2012)
  • Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate
    Tzschach, Andreas; Grasshoff, Ute; Schaeferhoff, Karin; Bonin, Michael; Dufke, Andreas; Wolff, Markus; Haas-Lude, Karin; Bevot, Andrea; Riess, Olaf (2012)