Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
Mundlos, Stefan, Robinson, Peter N, Krawitz, Peter M, Schweiger, Michal R, Rödelsperger, Christian, Marcelis, Carlo, Kölsch, Uwe, Meisel, Christian, Stephani, Friederike, Kinoshita, Taroh, Murakami, Yoshiko, Bauer, Sebastian, Isau, Melanie, Fischer, Axel, Dahl, Andreas, Kerick, Martin, Hecht, Jochen, Köhler, Sebastian, Jäger, Marten, Grünhagen, Johannes, de Condor, Birgit Jonske, Doelken, Sandra, Brunner, Han G, Meinecke, Peter, Passarge, Eberhard, Thompson, Miles D, Cole, David E, Horn, Denise, Roscioli, Tony
Published in Nature genetics (01.10.2010)
Published in Nature genetics (01.10.2010)
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Journal Article
MiR‐497∼195 Cluster MicroRNAs Regulate Osteoblast Differentiation by Targeting BMP Signaling
Grünhagen, Johannes, Bhushan, Raghu, Degenkolbe, Elisa, Jäger, Marten, Knaus, Petra, Mundlos, Stefan, Robinson, Peter N, Ott, Claus‐Eric
Published in Journal of bone and mineral research (01.05.2015)
Published in Journal of bone and mineral research (01.05.2015)
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Journal Article
MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites
Ott, Claus Eric, Grünhagen, Johannes, Jäger, Marten, Horbelt, Daniel, Schwill, Simon, Kallenbach, Klaus, Guo, Gao, Manke, Thomas, Knaus, Petra, Mundlos, Stefan, Robinson, Peter N
Published in PloS one (31.01.2011)
Published in PloS one (31.01.2011)
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Journal Article
Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing
Jäger, Marten, Ott, Claus-Eric, Grünhagen, Johannes, Hecht, Jochen, Schell, Hanna, Mundlos, Stefan, Duda, Georg N, Robinson, Peter N, Lienau, Jasmin
Published in BMC genomics (24.03.2011)
Published in BMC genomics (24.03.2011)
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Journal Article
The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta
Schwill, Simon, Seppelt, Philipp, Grünhagen, Johannes, Ott, Claus-Eric, MD, Jugold, Manfred, PhD, Ruhparwar, Arjang, MD, PhD, Robinson, Peter N., MD, PhD, Karck, Matthias, MD, PhD, Kallenbach, Klaus, MD, PhD
Published in Journal of vascular surgery (01.06.2013)
Published in Journal of vascular surgery (01.06.2013)
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Journal Article
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia
Ott, Claus Eric, Hein, Hendrikje, Lohan, Silke, Hoogeboom, Jeannette, Foulds, Nicola, Grünhagen, Johannes, Stricker, Sigmar, Villavicencio-Lorini, Pablo, Klopocki, Eva, Mundlos, Stefan
Published in Journal of medical genetics (01.07.2012)
Published in Journal of medical genetics (01.07.2012)
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Journal Article
Promiscuous and Depolarization‐Induced Immediate‐Early Response Genes Are Induced by Mechanical Strain of Osteoblasts
Ott, Claus‐Eric, Bauer, Sebastian, Manke, Thomas, Ahrens, Susan, Rödelsperger, Christian, Grünhagen, Johannes, Kornak, Uwe, Duda, Georg, Mundlos, Stefan, Robinson, Peter N
Published in Journal of bone and mineral research (01.07.2009)
Published in Journal of bone and mineral research (01.07.2009)
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Journal Article
Novel noncanonical splice site variant causes mild CHD7‐related disorder with variable intrafamilial expressivity
Boschann, Felix, Kosmehl, Sabine, Bloching, Marc, Grünhagen, Johannes, Hildebrand, Gabriele, Horn, Denise, Lyutenski, Stefan
Published in American journal of medical genetics. Part A (01.04.2023)
Published in American journal of medical genetics. Part A (01.04.2023)
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Journal Article
Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH)
Stürznickel, Julian, Heider, Fiona, Delsmann, Alena, Gödel, Markus, Grünhagen, Johannes, Huber, Tobias B, Kornak, Uwe, Amling, Michael, Oheim, Ralf
Published in Journal of bone and mineral research (01.08.2022)
Published in Journal of bone and mineral research (01.08.2022)
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Journal Article
miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules
Bhushan, Raghu, Grünhagen, Johannes, Becker, Jessica, Robinson, Peter N., Ott, Claus-Eric, Knaus, Petra
Published in The international journal of biochemistry & cell biology (01.03.2013)
Published in The international journal of biochemistry & cell biology (01.03.2013)
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Journal Article
Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1
Dame, Christof, Horn, Denise, Schomburg, Lutz, Grünhagen, Johannes, Chillon, Thilo Samson, Tietze, Anna, Vogt, Annika, Bührer, Christoph
Published in Clinical genetics (01.05.2023)
Published in Clinical genetics (01.05.2023)
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Journal Article
Mutations in WNT1 Cause Different Forms of Bone Fragility
Keupp, Katharina, Beleggia, Filippo, Kayserili, Hülya, Barnes, Aileen M., Steiner, Magdalena, Semler, Oliver, Fischer, Björn, Yigit, Gökhan, Janda, Claudia Y., Becker, Jutta, Breer, Stefan, Altunoglu, Umut, Grünhagen, Johannes, Krawitz, Peter, Hecht, Jochen, Schinke, Thorsten, Makareeva, Elena, Lausch, Ekkehart, Cankaya, Tufan, Caparrós-Martín, José A., Lapunzina, Pablo, Temtamy, Samia, Aglan, Mona, Zabel, Bernhard, Eysel, Peer, Koerber, Friederike, Leikin, Sergey, Garcia, K. Christopher, Netzer, Christian, Schönau, Eckhard, Ruiz-Perez, Victor L., Mundlos, Stefan, Amling, Michael, Kornak, Uwe, Marini, Joan, Wollnik, Bernd
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Journal Article
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families
Gottschalk, Annika, Sczakiel, Henrike L., Hülsemann, Wiebke, Schwartzmann, Sarina, Abad-Perez, Angela T., Grünhagen, Johannes, Ott, Claus-Eric, Spielmann, Malte, Horn, Denise, Mundlos, Stefan, Jamsheer, Aleksander, Mensah, Martin A.
Published in Genetics in medicine (01.11.2023)
Published in Genetics in medicine (01.11.2023)
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Journal Article
Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice
Guo, Gao, Muñoz-García, Begoña, Ott, Claus-Eric, Grünhagen, Johannes, Mousa, Shaaban A, Pletschacher, Angelika, von Kodolitsch, Yskert, Knaus, Petra, Robinson, Peter N
Published in Human molecular genetics (01.02.2013)
Published in Human molecular genetics (01.02.2013)
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Journal Article
Indomethacin Prevents the Progression of Thoracic Aortic Aneurysm in Marfan Syndrome Mice
Guo, Gao, Ott, Claus-Eric, Grünhagen, Johannes, Muñoz-García, Begoña, Pletschacher, Angelika, Kallenbach, Klaus, von Kodolitsch, Yskert, Robinson, Peter N.
Published in Aorta (Stamford, Conn.) (01.06.2013)
Published in Aorta (Stamford, Conn.) (01.06.2013)
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Journal Article
Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivity
Boschann, Felix, Kosmehl, Sabine, Bloching, Marc, Grünhagen, Johannes, Hildebrand, Gabriele, Horn, Denise, Lyutenski, Stefan
Published in American journal of medical genetics. Part A (01.04.2023)
Published in American journal of medical genetics. Part A (01.04.2023)
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MiR-497195 Cluster MicroRNAs Regulate Osteoblast Differentiation by Targeting BMP Signaling
Grunhagen, Johannes, Bhushan, Raghu, Degenkolbe, Elisa, Jager, Marten, Knaus, Petra, Mundlos, Stefan, Robinson, Peter N, Ott, Claus-Eric
Published in Journal of bone and mineral research (01.05.2015)
Published in Journal of bone and mineral research (01.05.2015)
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Journal Article