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Dr. rer. nat. Karin Buiting

Funktionen

  • Facharzt/-ärztin, Institut für Humangenetik

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Keine aktuellen Veranstaltungen.

Vergangene Veranstaltungen (max. 10)

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Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.

    Artikel in Zeitschriften

  • Günthner, Roman; Knipping, Lea; Jeruschke, Stefanie; Satanoskij, Robin; Lorenz-Depiereux, Bettina; Hemmer, Clara; Braunisch, Matthias C.; Riedhammer, Korbinian M.; Ćomić, Jasmina; Tönshoff, Burkhard; Tasic, Velibor; Abazi-Emini, Nora; Nushi-Stavileci, Valbona; Buiting, Karin; Gjorgjievski, Nikola; Momirovska, Ana; Patzer, Ludwig; Kirschstein, Martin; Gross, Oliver; Lungu, Adrian; Weber, Stefanie; Renders, Lutz; Heemann, Uwe; Meitinger, Thomas; Büscher, Anja; Hoefele, Julia
    Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
    In: Frontiers in Medicine , Jg. 9 2022, 953643
    DOI (Open Access)
  • Sassi, Hela; Elaribi, Yasmina; Jilani, Houweyda; Rejeb, Imen; Hizem, Syrine; Sebai, Molka; Kasdallah, Nadia; Bouthour, Habib; Hannachi, Samia; Beygo, Jasmin; Saad, Ali; Buiting, Karin; H’mida Ben-Brahim, Dorra; BenJemaa, Lamia
    Beckwith–Wiedemann syndrome : Clinical, histopathological and molecular study of two Tunisian patients and review of literature
    In: Molecular Genetics & Genomic Medicine , Jg. 9 2021, Nr. 10, e1796
    DOI (Open Access)
  • Beygo, Jasmin; Grosser, Christian; Kaya, Sabine; Mertel, Claudia; Buiting, Karin; Horsthemke, Bernhard
    Common genetic variation in the Angelman syndrome imprinting centre affects the imprinting of chromosome 15
    In: European Journal of Human Genetics , Jg. 28 2020, Nr. 6, S. 835 – 839
    DOI (Open Access)
  • Beygo, Jasmin; Bürger, Joachim; Strom, Tim M.; Kaya, Sabine; Buiting, Karin
    Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment
    In: European Journal of Human Genetics , Jg. 27 2019, S. 903 – 908
    DOI (Open Access)
  • Munteanu, Martin; Kiewert, Cordula; Matar, Nora; Hauffa, Berthold; Unger, Nicole; Hiort, Olaf; Thiele, Susanne; Buiting, Karin; Bramswig, Nuria C.; Grasemann, Corinna
    Resistance to GHRH but Not to PTH in a 15-year-old boy with pseudohypoparathyroidism 1A
    In: Journal of the Endocrine Society , Jg. 3 2019, Nr. 7, S. 1383 – 1389
    DOI (Open Access)
  • Beygo, Jasmin; Buiting, Karin; Ramsden, Simon C.; Ellis, Rachael; Clayton-Smith, Jill; Kanber, Deniz
    Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
    In: European Journal of Human Genetics , Jg. 27 2019, Nr. 9, S. 1326 – 1340
    DOI (Open Access)
  • Bramswig, Nuria C.; Buiting, Karin; Bechtel, Natalie; Horsthemke, Bernhard; Rostasy, Kevin; Wieczorek, Dagmar
    Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue
    In: Cytogenetics and Cell Genetics , Jg. 156 2018, Nr. 1, S. 9 – 13
    DOI
  • Dóra, Ács Orsolya; Bálint, Péterfia; Péter, Hollósi; Irén, Haltrich; Ágnes, Sallai; Andrea, Luczay; Buiting, Karin; Horsthemke, Bernhard; Dóra, Török; András, Szabó; György, Fekete
    Elsodleges genetikai vizsgálat Prader-Willi-szindróma igazolására
    In: Orvosi Hetilap , Jg. 159 2018, Nr. 2, S. 64 – 69
    DOI (Open Access)
  • Begemann, Matthias; Rezwan, Faisal I.; Beygo, Jasmin; Docherty, Louise E.; Kolarova, Julia; Schroeder, Christopher; Buiting, Karin; Chokkalingam, Kamal; Degenhardt, Franziska; Wakeling, Emma L.; Kleinle, Stephanie; González Fassrainer, Daniela; Oehl-Jaschkowitz, Barbara; Turner, Claire L. S.; Patalan, Michal; Gizewska, Maria; Binder, Gerhard; Bich Ngoc, Can Thi; Chi Dung, Vu; Mehta, Sarju G.; Baynam, Gareth; Hamilton-Shield, Julian P.; Aljareh, Sara; Lokulo-Sodipe, Oluwakemi; Horton, Rachel; Siebert, Reiner; Elbracht, Miriam; Temple, Isabel Karen; Eggermann, Thomas; Mackay, Deborah J. G.
    Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
    In: Journal of Medical Genetics (eJMG) , Jg. 55 2018, Nr. 7, S. 497 – 504
    DOI (Open Access)
  • Gillessen-Kaesbach, Gabriele; Albrecht, Beate; Eggermann, Thomas; Elbracht, Miriam; Mitter, Diana; Morlot, Susanne; van Ravenswaaij-Arts, Conny; Schulz, Solveig; Strobl-Wildemann, Gertrud; Buiting, Karin; Beygo, Jasmin
    Molecular and clinical studies in 8 patients with Temple syndrome
    In: Clinical Genetics , Jg. 93 2018, Nr. 6, S. 1179 – 1188
    DOI (Open Access)
  • Monk, David; Morales, Joannella; den Dunnen, Johan T; Russo, Silvia; Court, Franck; Prawitt, Dirk; Eggermann, Thomas; Beygo, Jasmin; Buiting, Karin; Tümer, Zeynep
    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
    In: Epigenetics , Jg. 13 2018, Nr. 2, S. 117 – 121
    DOI (Open Access)
  • Beygo, Jasmin; Mertel, Claudia; Kaya, Sabine; Gillessen-Kaesbach, Gabriele; Eggermann, Thomas; Horsthemke, Bernhard; Buiting, Karin
    The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders
    In: Epigenetics , Jg. 13 2018, Nr. 8, S. 822 – 828
    DOI (Open Access)
  • Le Fevre, Anna; Beygo, Jasmin; Silveira, Cheryl; Kamien, Benjamin; Clayton-Smith, Jill; Colley, Alison; Buiting, Karin; Dudding-Byth, Tracy
    Atypical Angelman syndrome due to a mosaic imprinting defect : Case reports and review of the literature
    In: American Journal of Medical Genetics, Part A , Jg. 173 2017, Nr. 3, S. 753 – 757
    DOI
  • Beygo, Jasmin; Küchler, Alma; Gillessen-Kaesbach, Gabriele; Albrecht, Beate; Eckle, Jonas; Eggermann, Thomas; Gellhaus, Alexandra; Kanber, Deniz; Kordaß, Ulrike; Lüdecke, Hermann-Josef; Purmann, Sabine; Rossier, Eva; van de Nes, Johannes; Van Der Werf, Ilse M; Wenzel, Maren; Wieczorek, Dagmar; Horsthemke, Bernhard; Buiting, Karin
    New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome
    In: European Journal of Human Genetics , Jg. 25 2017, Nr. 8, S. 935 – 945
    DOI
  • Eggermann, Thomas; Oehl-Jaschkowitz, Barbara; Dicks, Severin; Thomas, Wolfgang; Kanber, Deniz; Albrecht, Beate; Begemann, Matthias; Kurth, Ingo; Beygo, Jasmin; Buiting, Karin
    The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype” : result of placental trisomy 6 mosaicism?
    In: Molecular Genetics & Genomic Medicine , Jg. 5 2017, Nr. 6, S. 668 – 677
    DOI (Open Access)
  • Beygo, Jasmin; Joksić, Ivana D.; Strom, Tim M.; Lüdecke, Hermann-Josef; Kolarova, Julia; Siebert, Reiner; Miković, Željko M.; Horsthemke, Bernhard; Buiting, Karin
    A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrom
    In: European Journal of Human Genetics , Jg. 24 2016, S. 1280 – 1286
    DOI (Open Access)
  • Buiting, Karin; Williams, Charles; Horsthemke, Bernhard
    Angelman syndrome-insights into a rare neurogenetic disorder
    In: Nature Reviews Neurology , Jg. 12 2016, Nr. 10, S. 584 – 593
    DOI
  • Joshi, Ricky S; Garg, Paras; Zaitlen, Noah; Lappalainen, Tuuli; Watson, Corey T; Azam, Nidha; Ho, Daniel; Li, Xin; Antonarakis, Stylianos E; Brunner, Han G; Buiting, Karin; Cheung, Sau Wai; Coffee, Bradford; Eggermann, Thomas; Francis, David; Geraedts, Joep P; Gimelli, Giorgio; Jacobson, Samuel G; Le Caignec, Cedric; de Leeuw, Nicole; Liehr, Thomas; Mackay, Deborah J; Montgomery, Stephen B; Pagnamenta, Alistair T; Papenhausen, Peter; Robinson, David O; Ruivenkamp, Claudia; Schwartz, Charles; Steiner, Bernhard; Stevenson, David A; Surti, Urvashi; Wassink, Thomas; Sharp, Andrew J
    DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome
    In: The American Journal of Human Genetics , Jg. 99 2016, Nr. 3, S. 555 – 566
    DOI (Open Access)
  • Eggermann, Katja; Bliek, Jet; Brioude, Frédéric; Algar, Elizabeth; Buiting, Karin; Russo, Silvia; Tümer, Zeynep; Monk, David; Moore, Gudrun; Antoniadi, Thalia; Macdonald, Fiona; Netchine, Irène; Lombardi, Paolo; Soellner, Lukas; Begemann, Matthias; Prawitt, Dirk; Maher, Eamonn R; Mannens, Marcel; Riccio, Andrea; Weksberg, Rosanna; Lapunzina, Pablo; Grønskov, Karen; Mackay, Deborah Jg; Eggermann, Thomas
    EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders : Silver-Russell and Beckwith-Wiedemann syndrome
    In: European Journal of Human Genetics , Jg. 24 2016, Nr. 10, S. 1377 – 1387
    DOI (Open Access)
  • Parenti, Ilaria; Gervasini, Cristina Giovanna; Pozojevic, Jelena; Wendt, Kerstin S.; Watrin, Erwan; Azzollini, Jacopo; Braunholz, Diana; Buiting, Karin; Cereda, Anna; Engels, Hartmut; Garavelli, Livia; Glazar, Renata; Graffmann, Barbara; Larizza, Lidia; Lüdecke, Hermann-Josef; Mariani, Milena; Masciadri, Maura; Pié, Juan; Ramos, Feliciano J.; Russo, Silvia; Selicorni, Angelo; Stefanova, Margarita; Strom, Tim Matthias; Werner, Rolf Günter; Wierzba, Jolanta; Zampino, Giuseppe; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Kaiser, Frank J.
    Expanding the clinical spectrum of the 'HDAC8-phenotype' : Implications for molecular diagnostics, counseling and risk prediction
    In: Clinical Genetics , Jg. 89 2016, Nr. 5, S. 564 – 573
    DOI
  • van der Werf, Ilse M; Buiting, Karin; Czeschik, Christina; Reyniers, Edwin; Vandeweyer, Geert; Vanhaesebrouck, Piet; Lüdecke, Hermann-Josef; Wieczorek, Dagmar; Horsthemke, Bernhard; Mortier, Geert; Leroy, Jules G; Kooy, R Frank
    Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
    In: European Journal of Human Genetics , Jg. 24 2016, Nr. 12, S. 1724 – 1729
    DOI
  • Bens, Susanne; Kolarova, Julia; Beygo, Jasmin; Buiting, Karin; Caliebe, Almuth; Eggermann, Thomas; Gillessen-Kaesbach, Gabriele; Prawitt, Dirk; Thiele-Schmitz, Susanne; Begemann, Matthias; Enklaar, Thorsten; Gutwein, Jana; Haake, Andrea; Paul, Ulrike; Richter, Julia; Soellner, Lukas; Vater, Inga; Monk, David; Horsthemke, Bernhard; Ammerpohl, Ole; Siebert, Reiner
    Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances
    In: Epigenomics , Jg. 8 2016, Nr. 6, S. 801 – 816
  • Mikat, Barbara; Roll, Claudia; Schindler, Detlev; Gembruch, Ulrich; Klempert, Iris; Buiting, Karin; Bramswig, Nuria C.; Wieczorek, Dagmar
    X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy
    In: Clinical Dysmorphology , Jg. 25 2016, Nr. 2, S. 73 – 76
    DOI
  • Fryssira, Helen; Amenta, Stella; Kanber, Deniz; Sofocleous, Christalena; Lykopoulou, Evangelia; Kanaka-Gantenbein, Christina; Cerrato, Flavia; Lüdecke, Hermann-Josef; Bens, Susanne; Riccio, Andrea; Buiting, Karin
    A novel large deletion of the ICR1 region including H19 and putative enhancer elements
    In: BMC Medical Genetics , Jg. 16 2015, S. 30
    DOI (Open Access)
  • Elbracht, Miriam; Buiting, Karin; Bens, Susanne; Siebert, Reiner; Horsthemke, Bernhard; Gillessen-Kaesbach, Gabriele; Eggermann, Thomas
    Chromosom 14-assoziierte Imprintingsyndrome – Temple- und Kagami-Ogata-Syndrome : ein klinisches und molekulares Update
    In: Medizinische Genetik , Jg. 27 2015, Nr. 2, S. 247 – 253
    DOI
  • Buiting, Karin; Clayton-Smith, Jill; Driscoll, Daniel J.; Gillessen-Kaesbach, Gabriele; Kanber, Deniz; Schwinger, Eberhard; Williams, Charles A.; Horsthemke, Bernhard
    Clinical utility gene card for : Angelman syndrome
    In: European Journal of Human Genetics , Jg. 23 2015, Nr. 2, S. e1 – e3
    DOI
  • Laurentino, Sandra; Beygo, Jasmin; Nordhoff, Verena; Kliesch, Sabine; Wistuba, Joachim; Borgmann, Jennifer; Buiting, Karin; Horsthemke, Bernhard; Gromoll, Jörg
    Epigenetic germline mosaicism in infertile men
    In: Human Molecular Genetics , Jg. 24 2015, Nr. 5, S. 1295 – 1304
    DOI (Open Access)
  • Laurentino, S.; Beygo, J.; Nordhoff, V.; Kliesch, S.; Wistuba, J.; Borgmann, J.; Buiting, Karin; Horsthemke, Bernhard; Gromoll, J.
    Epigenetic heterogeneity in sperm of infertile men
    In: Human Reproduction , Jg. 30 1 2015, S. 104 – 104
  • Fairbrother, Laura C.; Cytrynbaum, Cheryl; Boutis, Paula; Buiting, Karin; Weksberg, Rosanna; Williams, Charles
    Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect
    In: American Journal of Medical Genetics, Part A , Jg. 167 2015, Nr. 7, S. 1565 – 1569
    DOI
  • Eggermann, Thomas; Soellner, Lukas; Buiting, Karin; Kotzot, Dieter
    Mosaicism and uniparental disomy in prenatal diagnosis
    In: Trends in Molecular Medicine , Jg. 21 2015, Nr. 2, S. 77 – 87
    DOI
  • Mackay, Deborah J. G.; Eggermann, Thomas; Buiting, Karin; Garin, Intza; Netchine, Irène; Linglart, Agnès; De Nanclares, Guiomar P.
    Multilocus methylation defects in imprinting disorders
    In: Biomolecular Concepts , Jg. 6 2015, Nr. 1, S. 47 – 57
    DOI
  • Docherty, Louise E.; Rezwan, Faisal I.; Poole, Rebecca L.; Turner, Claire L. S.; Kivuva, Emma; Maher, Eamonn R.; Smithson, Sarah F.; Hamilton-Shield, Julian P.; Patalan, Michael; Gizewska, Maria; Peregud-Pogorzelski, Jaroslaw; Beygo, Jasmin; Buiting, Karin; Horsthemke, Bernhard; Soellner, Lukas; Begemann, Matthias; Eggermann, Thomas; Baple, Emma; Mansour, Sahar; Temple, I. Karen; MacKay, Deborah J. G.
    Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
    In: Nature Communications , Jg. 6 2015, S. 8086
    DOI (Open Access)
  • Beygo, Jasmin; Elbracht, Miriam; De Groot, Karel; Begemann, Matthias; Kanber, Deniz; Platzer, Konrad; Gillessen-Kaesbach, Gabriele; Vierzig, Anne; Green, Andrew; Heller, Raoul; Buiting, Karin; Eggermann, Thomas
    Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32
    In: European Journal of Human Genetics , Jg. 23 2015, Nr. 2, S. 180 – 188
    DOI (Open Access)
  • Bens, Susanne; Kolarova, Julia; Gillessen-Kaesbach, Gabriele; Buiting, Karin; Beygo, Jasmin; Caliebe, Almuth; Ammerpohl, Ole; Siebert, Reiner
    The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome
    In: Epigenomics , Jg. 7 2015, Nr. 7, S. 1089 – 1097
    DOI
  • Caliebe, Almuth; Richter, Julia; Ammerpohl, Ole; Kanber, Deniz; Beygo, Jasmin; Bens, Susanne; Haake, Andrea; Jüttner, Eva; Korn, Bernhard; Mackay, Deborah J G; Martin-Subero, José I.; Nagel, Inga; Sebire, Neil J.; Seidmann, Larissa; Vater, Inga; Kaisenberg von, Constantin Sylvius; Temple, Karen; Horsthemke, Bernhard; Buiting, Karin; Siebert, Reiner
    A familial disorder of altered DNA-methylation
    In: Journal of Medical Genetics (eJMG) , Jg. 51 2014, Nr. 6, S. 407 – 412
    DOI
  • Eggermann, Thomas; Heilsberg, Ann-Katrin; Bens, Susanne; Siebert, Reiner; Beygo, Jasmin; Buiting, Karin; Begemann, Matthias; Soellner, Lukas
    Additional molecular findings in 11p15-associated imprinting disorders: An urgent need for multi-locus testing
    In: Journal of Molecular Medicine , Jg. 92 2014, Nr. 7, S. 769 – 777
    DOI
  • Buiting, Karin; Donato, Nataliya Di; Beygo, Jasmin; Bens, Susanne; Hagen, Maya von der; Hackmann, Karl; Horsthemke, Bernhard
    Clinical phenotypes of MAGEL2 mutations and deletions
    In: Orphanet Journal of Rare Diseases , Jg. 9 2014, Nr. 1, S. 40
    DOI (Open Access)
  • Buiting, Karin; Cassidy, Suzanne B.; Driscoll, Daniel J.; Gillessen-Kaesbach, Gabriele; Kanber, Deniz; Tauber, Maithé; Schwinger, Eberhard; Horsthemke, Bernhard
    Clinical utility gene card for : Prader-Willi Syndrome
    In: European Journal of Human Genetics , Jg. 22 2014, Nr. 9, S. 1153
    DOI
  • Salas-Labadía, Consuelo; Lieberman, Esther; Cruz-Alcívar, Roberto; Navarrete-Meneses, Pilar; Gómez, Samuel; Cantú-Reyna, Consuelo; Buiting, Karin; Durán-McKinster, Carola; Pérez-Vera, Patricia
    Partial and complete trisomy 14 mosaicism : clinical follow-up, cytogenetic and molecular analysis
    In: Molecular Cytogenetics , Jg. 7 2014, Nr. 1, S. 65
    DOI (Open Access)
  • Neumann, Lisa C.; Feiner, Nathalie; Meyer, Axel; Buiting, Karin; Horsthemke, Bernhard
    The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes
    In: Genome Biology and Evolution , Jg. 6 2014, Nr. 2, S. 344 – 351
    DOI (Open Access)
  • Beygo, Jasmin; Ammerpohl, Ole; Gritzan, Daniela; Heitmann, Melanie; Rademacher, Katrin; Richter, Julia; Caliebe, Almuth; Siebert, Reiner; Horsthemke, Bernhard; Buiting, Karin
    Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects
    In: PLoS ONE , Jg. 8 2013, Nr. 10, S. e76953
    DOI (Open Access)
  • Berland, Siren; Appelbäck, Mia; Bruland, Ove; Beygo, Jasmin; Buiting, Karin; Mackay, Deborah J. G.; Temple, Karen I.; Houge, Gunnar
    Evidence for anticipation in Beckwith-Wiedemann syndrome
    In: European Journal of Human Genetics , Jg. 21 2013, Nr. 12, S. 1344 – 1348
    DOI
  • Bens, Susanne; Haake, Andrea; Richter, Julia; Leohold, Judith; Kolarova, Julia; Vater, Inga; Riepe, Felix G.; Buiting, Karin; Eggermann, Thomas; Gillessen-Kaesbach, Gabriele; Platzer, Konrad; Prawitt, Dirk; Caliebe, Almuth; Siebert, Reiner
    Frequency and characterization of DNA methylation defects in children born SGA
    In: European Journal of Human Genetics , Jg. 21 2013, Nr. 8, S. 838 – 843
    DOI
  • Steenpass, Laura; Kanber, Deniz; Hiber, Michaela; Buiting, Karin; Horsthemke, Bernhard; Lohmann, Dietmar
    Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1
    In: PLoS ONE , Jg. 8 2013, Nr. 9, S. e74159
    DOI (Open Access)
  • Eggermann, Thomas; Soellner, Lukas; Bens, Susanne; Spengler, Sabrina; Siebert, Reiner; Buiting, Karin; Horsthemke, Bernhard; Begemann, Matthias
    Molekulargenetische Diagnostik von Imprinting-Erkrankungen
    In: Biospektrum , Jg. 19 2013, Nr. 7, S. 753 – 758
    DOI
  • Eggermann, Thomas; Begemann, Matthias; Soellner, Lukas; Elbracht, Miriam; Buiting, Karin; Horsthemke, Bernhard; Spengler, Sabrina
    Molekulargenetische Diagnostik von Imprintingerkrankungen : Relevanz von Multilocusmethylierungsdefekten
    In: Medizinische Genetik , Jg. 25 2013, Nr. 1, S. 5 – 14
    DOI
  • Kanber, Deniz; Buiting, Karin; Roos, Christian; Gromoll, Jörg; Kaya, Sabine; Horsthemke, Bernhard; Lohmann, Dietmar
    The Origin of the RB1 Imprint
    In: PLoS ONE , Jg. 8 2013, Nr. 11, S. e81502
    DOI (Open Access)
  • Beygo, Jasmin; Citro, Valentina; Sparago, Angela; Crescenzo, Agostina de; Cerrato, Flavia; Heitmann, Melanie; Rademacher, Katrin; Guala, Andrea; Enklaar, Thorsten; Anichini, Cecilia; Cirillo Silengo, Margherita; Graf, Notker; Prawitt, Dirk; Cubellis, Maria Vittoria; Horsthemke, Bernhard; Buiting, Karin; Riccio, Andrea
    The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
    In: Human Molecular Genetics , Jg. 22 2013, Nr. 3, S. 544 – 557
    DOI
  • Czeschik, Johanna Christina; Bauer, Peter; Buiting, Karin; Dufke, Claudia; Guillén-Navarro, Encarna; Johnson, Diana S; Koehler, Udo; López-González, Vanesa; Lüdecke, Hermann-Josef; Male, Alison; Morrogh, Deborah; Rieß, Angelika; Tzschach, Andreas; Wieczorek, Dagmar; Küchler, Alma
    X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
    In: Orphanet Journal of Rare Diseases , Jg. 8 2013, Nr. 1, S. 146
    DOI (Open Access)
  • Eggermann, T; Spengler, S; Begemann, M; Binder, G; Buiting, Karin; Albrecht, Beate; Spranger, S
    Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.
    In: Clinical Genetics , Jg. 81 2012, Nr. 3, S. 298 – 300
    DOI
  • Beygo, J; Buiting, Karin; Seland, S; Lüdecke, Hermann-Josef; Hehr, U; Lich, C; Prager, B; Lohmann, Dietmar; Wieczorek, Dagmar
    First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
    In: Molecular Syndromology , Jg. 2 2012, Nr. 2, S. 53 – 59
    DOI
  • Neumann, Lisa; Markaki, Yolanda; Mladenov, Emil; Hoffmann, Daniel; Buiting, Karin; Horsthemke, Bernhard
    The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein
    In: Human Molecular Genetics , Jg. 21 2012, Nr. 18, S. 4038 – 4048
    DOI (Open Access)
  • Eggermann, Thomas; Buiting, Karin; Temple, I Karen
    Clinical utility gene card for : Silver-Russell syndrome
    In: European Journal of Human Genetics , Jg. 19 2011, Nr. 3
    DOI
  • Dagli, A.; Buiting, Karin; Williams, C. A.
    Molecular and clinical aspects of Angelman syndrome
    In: Molecular Syndromology , Jg. 2 2011, Nr. 3/5, S. 100 – 112
    DOI
  • Begemann, M.; Spengler, S.; Kanber, D.; Haake, A.; Baudis, M.; Leisten, I.; Binder, G.; Markus, S.; Rupprecht, T.; Segerer, H.; Fricke-Otto, S.; Mühlenberg, R.; Siebert, R.; Buiting, Karin; Eggermann, T.
    Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
    In: Clinical Genetics , Jg. 80 2011, Nr. 1, S. 83 – 88
    DOI
  • Béna, Frédérique; Gimelli, Stefania; Migliavacca, Eugenia; Brun-Druc, Nathalie; Buiting, Karin; Antonarakis, Stylianos E.; Sharp, Andrew J.
    A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats
    In: Human Molecular Genetics , Jg. 19 2010, Nr. 10, S. 1967 – 1973
    DOI
  • Buiting, Karin; Kanber, Deniz; Horsthemke, Bernhard; Lohmann, Dietmar
    Imprinting of RB1 (the new kid on the block)
    In: Briefings in Functional Genomics and Proteomics , Jg. 9 2010, Nr. 4, S. 347 – 353
    DOI
  • Livingstone, Elisabeth; Caliebe, Almuth; Egberts, Friederike; Proksch, Ehrhardt; Buiting, Karin; Schubert, Carola; Claviez, Alexander; Siebert, Reiner; Hauschild, Axel
    Malignant melanoma and Wiedemann-Beckwith syndrome in childhood
    In: Klinische Pädiatrie , Jg. 222 2010, Nr. 6, S. 388 – 390
    DOI
  • Ramsden, Simon C.; Clayton-Smith, Jill; Birch, Rachael; Buiting, Karin
    Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes
    In: BMC Medical Genetics , Jg. 11 2010, Nr. 1
    DOI (Open Access)
  • Buiting, Karin
    Prader-Willi syndrome and Angelman syndrome
    In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics , Jg. 154 2010, Nr. 3, S. 365 – 376
    DOI
  • Albrecht, Beate; Buiting, Karin
    Prader-Willi-Syndrom und Angelman-Syndrom
    In: Medizinische Genetik , Jg. 22 2010, Nr. 4, S. 392 – 398
    DOI
  • Irving, Melita D.; Buiting, Karin; Kanber, Deniz; Donaghue, Celia; Schulz, Reiner; Offiah, Amaka; Mohammed, Shehla N.; Oakey, Rebecca J.
    Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14
    In: American Journal of Medical Genetics, Part A , Jg. 152 2010, Nr. 8, S. 1942 – 1950
    DOI
  • Simon, Thorsten; Feldkötter, Markus; Buiting, Karin; Ortmann, Mirjam; Bolz, Hanno J.; Körber, Friederike
    Slow progression of a small Wilms' tumor
    In: Klinische Pädiatrie , Jg. 222 2010, Nr. 3, S. 190 – 191
    DOI
  • Wawrzik, Michaela; Unmehopa, Unga Arifa; Swaab, Dick Frans; van de Nes, Johannes; Buiting, Karin; Horsthemke, Bernhard
    The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection
    In: Neurogenetics , Jg. 11 2010, Nr. 2, S. 153 – 161
    DOI
  • Wawrzik, M.; Spiess, A. N.; Herrmann, Ralf; Buiting, Karin; Horsthemke, Bernhard
    Expression of SNURF-SNRPN upstream transcripts and epigenetic regulatory genes during human spermatogenesis
    In: European Journal of Human Genetics , Jg. 17 2009, Nr. 11, S. 1463 – 1470
    DOI

    • Abstracts

  • Beygo, Jasmin; Buiting, Karin; Ramsden, Simon; Ellis, Rachael; Clayton-Smith, Jill; Kanber, Deniz
    Update of the EMQN / ACGS best practice Guidelines for Molecular Analysis of Prader-Willi and Angelman Syndromes
    53rd European Society of Human Genetics (ESHG) Conference ; June 6-9, 2020, Virtual Conference,
    In: European Journal of Human Genetics , Jg. 28 2020, Nr. Supplement 1, S. 633 – 634
    DOI (Open Access)