Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita

por Busack, Brit, Ott, Claus-Eric, Henrich, Wolfgang, Verlohren, Stefan
Publicado 2020

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

por Jäger, Marten, Ott, Claus-Eric, Grünhagen, Johannes, Hecht, Jochen, Schell, Hanna, Mundlos, Stefan, Duda, Georg N, Robinson, Peter N, Lienau, Jasmin
Publicado 2011

BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation

por Schreiber, Isabelle, Dörpholz, Gina, Ott, Claus-Eric, Kragesteen, Bjørt, Schanze, Nancy, Lee, Cory Thomas, Köhrle, Josef, Mundlos, Stefan, Ruschke, Karen, Knaus, Petra
Publicado 2017

Evaluation of the role of STAP1 in Familial Hypercholesterolemia

por Danyel, Magdalena, Ott, Claus-Eric, Grenkowitz, Thomas, Salewsky, Bastian, Hicks, Andrew A., Fuchsberger, Christian, Steinhagen-Thiessen, Elisabeth, Bobbert, Thomas, Kassner, Ursula, Demuth, Ilja
Publicado 2019

MicroRNAs Differentially Expressed in Postnatal Aortic Development Downregulate Elastin via 3′ UTR and Coding-Sequence Binding Sites

por Ott, Claus Eric, Grünhagen, Johannes, Jäger, Marten, Horbelt, Daniel, Schwill, Simon, Kallenbach, Klaus, Guo, Gao, Manke, Thomas, Knaus, Petra, Mundlos, Stefan, Robinson, Peter N.
Publicado 2011

The Interaction of BMP2‐Induced Defect Healing in Rat and Fixator Stiffness Modulates Matrix Alignment and Contraction

por Schwarz, Carolin, Ott, Claus‐Eric, Wulsten, Dag, Brauer, Erik, Schreivogel, Sophie, Petersen, Ansgar, Hassanein, Kerstin, Roewer, Linda, Schmidt, Tanja, Willie, Bettina M, Duda, Georg N
Publicado 2018

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

por Pantel, Jean Tori, Hajjir, Nurulhuda, Danyel, Magdalena, Elsner, Jonas, Abad-Perez, Angela Teresa, Hansen, Peter, Mundlos, Stefan, Spielmann, Malte, Horn, Denise, Ott, Claus-Eric, Mensah, Martin Atta
Publicado 2020

Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient

por Kobus, Karolina, Hartl, Daniela, Ott, Claus Eric, Osswald, Monika, Huebner, Angela, von der Hagen, Maja, Emmerich, Denise, Kühnisch, Jirko, Morreau, Hans, Hes, Frederik J., Mautner, Victor F., Harder, Anja, Tinschert, Sigrid, Mundlos, Stefan, Kolanczyk, Mateusz
Publicado 2015

Deletions of chromosomal regulatory boundaries are associated with congenital disease

por Ibn-Salem, Jonas, Köhler, Sebastian, Love, Michael I, Chung, Ho-Ryun, Huang, Ni, Hurles, Matthew E, Haendel, Melissa, Washington, Nicole L, Smedley, Damian, Mungall, Christopher J, Lewis, Suzanna E, Ott, Claus-Eric, Bauer, Sebastian, Schofield, Paul N, Mundlos, Stefan, Spielmann, Malte, Robinson, Peter N
Publicado 2014

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplast...

por Chan, Wing Lee, Steiner, Magdalena, Witkos, Tomasz, Egerer, Johannes, Busse, Björn, Mizumoto, Shuji, Pestka, Jan M., Zhang, Haikuo, Hausser, Ingrid, Khayal, Layal Abo, Ott, Claus-Eric, Kolanczyk, Mateusz, Willie, Bettina, Schinke, Thorsten, Paganini, Chiara, Rossi, Antonio, Sugahara, Kazuyuki, Amling, Michael, Knaus, Petra, Chan, Danny, Lowe, Martin, Mundlos, Stefan, Kornak, Uwe
Publicado 2018

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of...

por Dumont, Martine, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stéphane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallée, Maxime, Fournier, Frédéric, Lemaçon, Audrey, Adank, Muriel A., Allen, Jamie, Altmüller, Janine, Arnold, Norbert, Ausems, Margreet G. E. M., Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R., Dunning, Alison M., Engel, Christoph, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horváth, Judit, Ikram, M. Arfan, Kaulfuß, Silke, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M., Niederacher, Dieter, Nürnberg, Peter, Ott, Claus-Eric, Peters, Annette, Pharoah, Paul D. P., Ramirez, Alfredo, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stäbler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F., Devilee, Peter, Tavtigian, Sean, Bader, Gary D., Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K., Hahnen, Eric, Simard, Jacques
Publicado 2022

PEDIA: prioritization of exome data by image analysis

por Hsieh, Tzung-Chien, Mensah, Martin A., Pantel, Jean T., Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi B., Biskup, Saskia, Borisov, Oleg, Braaten, Oivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, Eden, Hilda David, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Đukić, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W., Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J., Mangold, Elisabeth, Reina, Purificación Marín, Carrascal, Antonio Martinez, Mitter, Diana, Herrador, Laura Morlan, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Fagerberg, Christina Ringmann, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kyung, Sznajer, Yves, Thiel, Christian T., Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wiśniewska, Marzena, Wollnik, Bernd, Yeung, Ming W., Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.
Publicado 2019

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

por Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen B. M., Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hansen, Thomas V. O., Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L., Manoukian, Siranoush, Mari, Véronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C., Rønlund, Karina, Rosenberg, Efraim H., Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Sharif, Saba, Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Tripathi, Vishakha, Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Wevers, Marike R., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., Walker, Logan C.
Publicado 2022

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

por Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Åke, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B. M., Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Cook, Jackie, Daly, Mary B., Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans B. L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Koudijs, Marco, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Mari, Véronique, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mouret-Fourme, Emmanuelle, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Noguès, Catherine, Olah, Edith, Olopade, Olufunmilayo I., Ong, Kai-ren, O’Shaughnessy-Kirwan, Aoife, Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Phillips, Kelly-Anne, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Rønlund, Karina, Salani, Ritu, Schuster, Hélène, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C.
Publicado 2020