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Origin of pancreatic ductal adenocarcinoma from atypical flat lesions: a comparative study in transgenic mice and human tissues
Aichler, Michaela, Seiler, Christopher, Tost, Monica, Siveke, Jens, Mazur, Pawel K, Da Silva-Buttkus, Patricia, Bartsch, Detlef K, Langer, Peter, Chiblak, Sara, Dürr, Anna, Höfler, Heinz, Klöppel, Günter, Müller-Decker, Karin, Brielmeier, Markus, Esposito, Irene
Published in The Journal of pathology (01.04.2012)
Published in The Journal of pathology (01.04.2012)
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Journal Article
Understanding gene functions and disease mechanisms: Phenotyping pipelines in the German Mouse Clinic
Fuchs, Helmut, Aguilar-Pimentel, Juan Antonio, Amarie, Oana V., Becker, Lore, Calzada-Wack, Julia, Cho, Yi-Li, Garrett, Lillian, Hölter, Sabine M., Irmler, Martin, Kistler, Martin, Kraiger, Markus, Mayer-Kuckuk, Philipp, Moreth, Kristin, Rathkolb, Birgit, Rozman, Jan, da Silva Buttkus, Patricia, Treise, Irina, Zimprich, Annemarie, Gampe, Kristine, Hutterer, Christine, Stöger, Claudia, Leuchtenberger, Stefanie, Maier, Holger, Miller, Manuel, Scheideler, Angelika, Wu, Moya, Beckers, Johannes, Bekeredjian, Raffi, Brielmeier, Markus, Busch, Dirk H., Klingenspor, Martin, Klopstock, Thomas, Ollert, Markus, Schmidt-Weber, Carsten, Stöger, Tobias, Wolf, Eckhard, Wurst, Wolfgang, Yildirim, Ali Önder, Zimmer, Andreas, Gailus-Durner, Valérie, Hrabě de Angelis, Martin
Published in Behavioural brain research (15.10.2018)
Published in Behavioural brain research (15.10.2018)
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Journal Article
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse
Biagosch, Caroline A., Vidali, Silvia, Faerberboeck, Michael, Hensler, Svenja-Viola, Becker, Lore, Amarie, Oana V., Aguilar-Pimentel, Antonio, Garrett, Lillian, Klein-Rodewald, Tanja, Rathkolb, Birgit, Zanuttigh, Enrica, Calzada-Wack, Julia, da Silva-Buttkus, Patricia, Rozman, Jan, Treise, Irina, Fuchs, Helmut, Gailus-Durner, Valerie, de Angelis, Martin Hrabě, Janik, Dirk, Wurst, Wolfgang, Mayr, Johannes A., Klopstock, Thomas, Meitinger, Thomas, Prokisch, Holger, Iuso, Arcangela
Published in Mammalian genome (01.10.2021)
Published in Mammalian genome (01.10.2021)
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Journal Article
Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes
Vidali, Silvia, Gerlini, Raffaele, Thompson, Kyle, Urquhart, Jill E, Meisterknecht, Jana, Aguilar‐Pimentel, Juan Antonio, Amarie, Oana V, Becker, Lore, Breen, Catherine, Calzada‐Wack, Julia, Chhabra, Nirav F, Cho, Yi‐Li, da Silva‐Buttkus, Patricia, Feichtinger, René G, Gampe, Kristine, Garrett, Lillian, Hoefig, Kai P, Hölter, Sabine M, Jameson, Elisabeth, Klein‐Rodewald, Tanja, Leuchtenberger, Stefanie, Marschall, Susan, Mayer‐Kuckuk, Philipp, Miller, Gregor, Oestereicher, Manuela A, Pfannes, Kristina, Rathkolb, Birgit, Rozman, Jan, Sanders, Charlotte, Spielmann, Nadine, Stoeger, Claudia, Szibor, Marten, Treise, Irina, Walter, John H, Wurst, Wolfgang, Mayr, Johannes A, Fuchs, Helmut, Gärtner, Ulrich, Wittig, Ilka, Taylor, Robert W, Newman, William G, Prokisch, Holger, Gailus‐Durner, Valerie, Hrabě de Angelis, Martin
Published in EMBO molecular medicine (07.12.2021)
Published in EMBO molecular medicine (07.12.2021)
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Journal Article
Effect of cell shape and packing density on granulosa cell proliferation and formation of multiple layers during early follicle development in the ovary
Da Silva-Buttkus, Patricia, Jayasooriya, Gayani S., Mora, Jocelyn M., Mobberley, Margaret, Ryder, Timothy A., Baithun, Marianne, Stark, Jaroslav, Franks, Stephen, Hardy, Kate
Published in Journal of cell science (01.12.2008)
Published in Journal of cell science (01.12.2008)
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Journal Article
Examining the liver–pancreas crosstalk reveals a role for the molybdenum cofactor in β-cell regeneration
Karampelias, Christos, Băloiu, Bianca, Rathkolb, Birgit, da Silva-Buttkus, Patricia, Bachar-Wikström, Etty, Marschall, Susan, Fuchs, Helmut, Gailus-Durner, Valerie, Chu, Lianhe, Hrabě de Angelis, Martin, Andersson, Olov
Published in Life science alliance (01.11.2024)
Published in Life science alliance (01.11.2024)
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Journal Article
Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk
Garrett, Lillian, Da Silva-Buttkus, Patricia, Rathkolb, Birgit, Gerlini, Raffaele, Becker, Lore, Sanz-Moreno, Adrian, Seisenberger, Claudia, Zimprich, Annemarie, Aguilar-Pimentel, Antonio, Amarie, Oana V., Cho, Yi-Li, Kraiger, Markus, Spielmann, Nadine, Calzada-Wack, Julia, Marschall, Susan, Busch, Dirk, Schmitt-Weber, Carsten, Wolf, Eckhard, Wurst, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Hölter, Sabine M., Hrabě de Angelis, Martin
Published in Disease models & mechanisms (01.03.2022)
Published in Disease models & mechanisms (01.03.2022)
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Journal Article
Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System
Staropoli, John F., Haliw, Larissa, Biswas, Sunita, Garrett, Lillian, Hölter, Sabine M., Becker, Lore, Skosyrski, Sergej, Da Silva-Buttkus, Patricia, Calzada-Wack, Julia, Neff, Frauke, Rathkolb, Birgit, Rozman, Jan, Schrewe, Anja, Adler, Thure, Puk, Oliver, Sun, Minxuan, Favor, Jack, Racz, Ildikó, Bekeredjian, Raffi, Busch, Dirk H., Graw, Jochen, Klingenspor, Martin, Klopstock, Thomas, Wolf, Eckhard, Wurst, Wolfgang, Zimmer, Andreas, Lopez, Edith, Harati, Hayat, Hill, Eric, Krause, Daniela S., Guide, Jolene, Dragileva, Ella, Gale, Evan, Wheeler, Vanessa C., Boustany, Rose-Mary, Brown, Diane E., Breton, Sylvie, Ruether, Klaus, Gailus-Durner, Valérie, Fuchs, Helmut, de Angelis, Martin Hrabě, Cotman, Susan L.
Published in PloS one (06.06.2012)
Published in PloS one (06.06.2012)
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Journal Article
LncRNA U90926 is dispensable for the development of obesity‐associated phenotypes in vivo
Sabikunnahar, Bristy, Caldwell, Sydney, Varnum, Stella, Hogan, Tyler, Lahue, Karolyn G., Rathkolb, Birgit, Gerlini, Raffaele, Dragano, Nathalia R. V., Aguilar‐Pimentel, Antonio, Irmler, Martin, Sanz‐Moreno, Adrián, Silva‐Buttkus, Patricia, Amarie, Oana V., Becker, Lore, Busch, Dirk H., Calzada‐Wack, Julia, Cho, Yi‐Li, Garrett, Lillian, Hoelter, Sabine M., Kraiger, Markus‐Josef, Leuchtenberger, Stefanie, Östereicher, Manuela A., Spielmann, Nadine, Stoeger, Claudia, Wurst, Wolfgang, Beckers, Johannes, Wolf, Eckhard, Gailus‐Durner, Valerie, Fuchs, Helmut, Hrabe de Angelis, Martin, Ather, Jennifer L., Poynter, Matthew E., Krementsov, Dimitry N.
Published in Physiological reports (01.01.2024)
Published in Physiological reports (01.01.2024)
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Journal Article
Anti-Müllerian Hormone Protein Expression Is Reduced during the Initial Stages of Follicle Development in Human Polycystic Ovaries
Stubbs, Sharron A., Hardy, Kate, Da Silva-Buttkus, Patricia, Stark, Jaroslav, Webber, Lisa J., Flanagan, Adrienne M., Themmen, Axel P. N., Visser, Jenny A., Groome, Nigel P., Franks, Stephen
Published in The journal of clinical endocrinology and metabolism (01.10.2005)
Published in The journal of clinical endocrinology and metabolism (01.10.2005)
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Journal Article
Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice
Segur-Bailach, Eulàlia, Mateu-Bosch, Anna, Bofill-De Ros, Xavier, Parés, Marta, da Silva Buttkus, Patricia, Rathkolb, Birgit, Gailus-Durner, Valérie, Hrabě de Angelis, Martin, Moeini, Pedram, Gonzalez-Aseguinolaza, Gloria, Tort, Frederic, Ribes, Antonia, van Karnebeek, Clara D.M., García-Villoria, Judit, Fillat, Cristina
Published in Molecular therapy (17.07.2025)
Published in Molecular therapy (17.07.2025)
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Journal Article
Towards a kingdom of reproductive life - the core sperm proteome
Pini, Taylor, Nixon, Brett, Karr, Timothy L, Teperino, Raffaele, Sanz-Moreno, Adrián, da Silva-Buttkus, Patricia, Tüttelmann, Frank, Kliesch, Sabine, Gailus-Durner, Valérie, Fuchs, Helmut, Marschall, Susan, Hrabě de Angelis, Martin, Skerrett-Byrne, David A
Published in Reproduction (Cambridge, England) (01.06.2025)
Published in Reproduction (Cambridge, England) (01.06.2025)
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Journal Article
Echo2Pheno: a deep-learning application to uncover echocardiographic phenotypes in conscious mice
Bukas, Christina, Galter, Isabella, da Silva-Buttkus, Patricia, Fuchs, Helmut, Maier, Holger, Gailus-Durner, Valerie, Müller, Christian L., Hrabě de Angelis, Martin, Piraud, Marie, Spielmann, Nadine
Published in Mammalian genome (01.06.2023)
Published in Mammalian genome (01.06.2023)
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Journal Article
Single-cell, whole-embryo phenotyping of mammalian developmental disorders
Huang, Xingfan, Henck, Jana, Qiu, Chengxiang, Sreenivasan, Varun K. A., Balachandran, Saranya, Amarie, Oana V., Hrabě de Angelis, Martin, Behncke, Rose Yinghan, Chan, Wing-Lee, Despang, Alexandra, Dickel, Diane E., Duran, Madeleine, Feuchtinger, Annette, Fuchs, Helmut, Gailus-Durner, Valerie, Haag, Natja, Hägerling, Rene, Hansmeier, Nils, Hennig, Friederike, Marshall, Cooper, Rajderkar, Sudha, Ringel, Alessa, Robson, Michael, Saunders, Lauren M., da Silva-Buttkus, Patricia, Spielmann, Nadine, Srivatsan, Sanjay R., Ulferts, Sascha, Wittler, Lars, Zhu, Yiwen, Kalscheuer, Vera M., Ibrahim, Daniel M., Kurth, Ingo, Kornak, Uwe, Visel, Axel, Pennacchio, Len A., Beier, David R., Trapnell, Cole, Cao, Junyue, Shendure, Jay, Spielmann, Malte
Published in Nature (London) (23.11.2023)
Published in Nature (London) (23.11.2023)
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Journal Article
Creld1 regulates myocardial development and function
Beckert, Vera, Rassmann, Sebastian, Kayvanjoo, Amir Hossein, Klausen, Christina, Bonaguro, Lorenzo, Botermann, Dominik Simon, Krause, Melanie, Moreth, Kristin, Spielmann, Nadine, da Silva-Buttkus, Patricia, Fuchs, Helmut, Gailus-Durner, Valerie, de Angelis, Martin Hrabě, Händler, Kristian, Ulas, Thomas, Aschenbrenner, Anna C., Mass, Elvira, Wachten, Dagmar
Published in Journal of molecular and cellular cardiology (01.07.2021)
Published in Journal of molecular and cellular cardiology (01.07.2021)
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Journal Article
Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction
Spielmann, Nadine, Schenkl, Christina, Komlódi, Tímea, da Silva-Buttkus, Patricia, Heyne, Estelle, Rohde, Jana, Amarie, Oana V., Rathkolb, Birgit, Gnaiger, Erich, Doenst, Torsten, Fuchs, Helmut, Gailus-Durner, Valérie, de Angelis, Martin Hrabě, Szibor, Marten
Published in Mammalian genome (01.06.2023)
Published in Mammalian genome (01.06.2023)
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Journal Article
Knockout mouse models as a resource for the study of rare diseases
da Silva-Buttkus, Patricia, Spielmann, Nadine, Klein-Rodewald, Tanja, Schütt, Christine, Aguilar-Pimentel, Antonio, Amarie, Oana V., Becker, Lore, Calzada-Wack, Julia, Garrett, Lillian, Gerlini, Raffaele, Kraiger, Markus, Leuchtenberger, Stefanie, Östereicher, Manuela A., Rathkolb, Birgit, Sanz-Moreno, Adrián, Stöger, Claudia, Hölter, Sabine M., Seisenberger, Claudia, Marschall, Susan, Fuchs, Helmut, Gailus-Durner, Valerie, Hrabě de Angelis, Martin
Published in Mammalian genome (01.06.2023)
Published in Mammalian genome (01.06.2023)
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Journal Article
Ocular Phenotyping of Knockout Mice Identifies Genes Associated With Late Adult Retinal Phenotypes
Hang, Abraham, Shao, Andy, Shea, Michael, Roux, Michel J., Imai-Leonard, Denise M., Adams, David J., Amano, Takanori, Amarie, Oana V., Berberovic, Zorana, Bour, Raphaël, Bower, Lynette, Leonard, Brian C., Brown, Steve D., Cho, Soo Young, Clementson-Mobbs, Sharon, D'Souza, Abigail J., Dickinson, Mary, Eskandarian, Mohammad, Flenniken, Ann M., Fuchs, Helmut, Gailus-Durner, Valerie, Heaney, Jason, Hérault, Yann, Hrabe de Angelis, Martin, Hsu, Chih-Wei, Jin, Shundan, Joynson, Russell, Kang, Yeon Kyung, Kim, Haerim, Masuya, Hiroshi, Nam, Ki-Hoan, Noh, Hyuna, Nutter, Lauryl M. J., Palkova, Marcela, Prochazka, Jan, Raishbrook, Miles Joseph, Riet, Fabrice, Salazar, Jason, Seavitt, John Richard, Sedlacek, Radislav, Selloum, Mohammed, Seo, Kyoung Yul, Seong, Je Kyung, Shin, Hae-Sol, Shiroishi, Toshihiko, Sorg, Tania, Stewart, Michelle, Tamura, Masaru, Tolentino, Heather, Udensi, Uchechukwu, Wells, Sara, Wurst, Wolfgang, Yoshiki, Atsushi, Meziane, Hamid, Yiu, Glenn, Sieving, Paul A., Lanoue, Louise, Lloyd, K C. Kent, McKerlie, Colin, Moshiri, Ala
Published in Investigative ophthalmology & visual science (02.06.2025)
Published in Investigative ophthalmology & visual science (02.06.2025)
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Journal Article
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome
Luo, Shiyu, Gailus-Durner, Valérie, McGivern, Bobbi, Li, Qifei, Kottmeier, Jessica, Ho, Mai-Lan, Mor-Shaked, Hagar, Elpeleg, Orly, Aref-Eshghi, Erfan, Brodeur, Amanda C., Schmitz-Abe, Klaus, Genetti, Casie A., Picker, Jonathan, Shi, Jiahai, Bux, Reem Ibrahim, Ben-Omran, Tawfeg, Fuchs, Helmut, Harel, Tamar, de Angelis, Martin Hrabě, Garrett, Lillian, Amarie, Oana Veronica, Spielmann, Nadine, Sanz-Moreno, Adrián, da Silva-Buttkus, Patricia, Dragano, Nathalia RV, Becker, Lore, Hölter, Sabine M., Seisenberger, Claudia, Marschall, Susan, Aguilar-Pimentel, Juan Antonio, Agrawal, Pankaj B.
Published in European journal of human genetics : EJHG (15.05.2025)
Published in European journal of human genetics : EJHG (15.05.2025)
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Journal Article
X-linked deletion of Crossfirre, Firre, and Dxz4 in vivo uncovers diverse phenotypes and combinatorial effects on autosomes
Hasenbein, Tim P., Hoelzl, Sarah, Smith, Zachary D., Gerhardinger, Chiara, Gonner, Marion O. C., Aguilar-Pimentel, Antonio, Amarie, Oana V., Becker, Lore, Calzada-Wack, Julia, Dragano, Nathalia R. V., da Silva-Buttkus, Patricia, Garrett, Lillian, Hölter, Sabine M., Kraiger, Markus, Östereicher, Manuela A., Rathkolb, Birgit, Sanz-Moreno, Adrián, Spielmann, Nadine, Wurst, Wolfgang, Gailus-Durner, Valerie, Fuchs, Helmut, Hrabě de Angelis, Martin, Meissner, Alexander, Engelhardt, Stefan, Rinn, John L., Andergassen, Daniel
Published in Nature communications (05.12.2024)
Published in Nature communications (05.12.2024)
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Journal Article