Educational paper: Connective tissue disorders with vascular involvement: from gene to therapy

Por Van Laer, Lut, Proost, Dorien, Loeys, Bart L.
Publicado em 2012

The diagnostic value of the facial features of Marfan syndrome

Por Ting, Beverlie L., Mathur, Deepti, Loeys, Bart L., Dietz, Harry C., Sponseller, Paul D.
Publicado em 2010

Angiotensin II type 1 receptor blockade attenuates TGF-β–induced failure of muscle regeneration in multiple myopathic states

Por Cohn, Ronald D, van Erp, Christel, Habashi, Jennifer P, Soleimani, Arshia A, Klein, Erin C, Lisi, Matthew T, Gamradt, Matthew, Rhys, Colette M ap, Holm, Tammy M, Loeys, Bart L, Ramirez, Francesco, Judge, Daniel P, Ward, Christopher W, Dietz, Harry C
Publicado em 2007

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Por Renard, Marjolijn, Holm, Tammy, Veith, Regan, Callewaert, Bert L, Adès, Lesley C, Baspinar, Osman, Pickart, Angela, Dasouki, Majed, Hoyer, Juliane, Rauch, Anita, Trapane, Pamela, Earing, Michael G, Coucke, Paul J, Sakai, Lynn Y, Dietz, Harry C, De Paepe, Anne M, Loeys, Bart L
Publicado em 2010

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

Por McInerney-Leo, Aideen M, Marshall, Mhairi S, Gardiner, Brooke, Coucke, Paul J, Van Laer, Lut, Loeys, Bart L, Summers, Kim M, Symoens, Sofie, West, Jennifer A, West, Malcolm J, Paul Wordsworth, B, Zankl, Andreas, Leo, Paul J, Brown, Matthew A, Duncan, Emma L
Publicado em 2013

Noncanonical TGFβ Signaling Contributes to Aortic Aneurysm Progression in Marfan Syndrome Mice

Por Holm, Tammy M., Habashi, Jennifer P., Doyle, Jefferson J., Bedja, Djahida, Chen, YiChun, van Erp, Christel, Lindsay, Mark E., Kim, David, Schoenhoff, Florian, Cohn, Ronald D., Loeys, Bart L., Thomas, Craig J., Patnaik, Samarjit, Marugan, Juan J., Judge, Daniel P., Dietz, Harry C.
Publicado em 2011

Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome

Por Habashi, Jennifer P., Judge, Daniel P., Holm, Tammy M., Cohn, Ronald D., Loeys, Bart L., Cooper, Timothy K., Myers, Loretha, Klein, Erin C., Liu, Guosheng, Calvi, Carla, Podowski, Megan, Neptune, Enid R., Halushka, Marc K., Bedja, Djahida, Gabrielson, Kathleen, Rifkin, Daniel B., Carta, Luca, Ramirez, Francesco, Huso, David L., Dietz, Harry C.
Publicado em 2006

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

Por Kishita, Yoshihito, Pajak, Aleksandra, Bolar, Nikhita Ajit, Marobbio, Carlo M.T., Maffezzini, Camilla, Miniero, Daniela V., Monné, Magnus, Kohda, Masakazu, Stranneheim, Henrik, Murayama, Kei, Naess, Karin, Lesko, Nicole, Bruhn, Helene, Mourier, Arnaud, Wibom, Rolf, Nennesmo, Inger, Jespers, Ann, Govaert, Paul, Ohtake, Akira, Van Laer, Lut, Loeys, Bart L., Freyer, Christoph, Palmieri, Ferdinando, Wredenberg, Anna, Okazaki, Yasushi, Wedell, Anna
Publicado no Am J Hum Genet (2015)

Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections

Por Meester, Josephina A.N., Vandeweyer, Geert, Pintelon, Isabel, Lammens, Martin, Van Hoorick, Lana, De Belder, Simon, Waitzman, Kathryn, Young, Luciana, Markham, Larry W., Vogt, Julie, Richer, Julie, Beauchesne, Luc M., Unger, Sheila, Superti-Furga, Andrea, Prsa, Milan, Dhillon, Rami, Reyniers, Edwin, Dietz, Harry C., Wuyts, Wim, Mortier, Geert, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.
Publicado no Genet Med (2017)

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Por Ostergaard, Pia, Simpson, Michael A., Mendola, Antonella, Vasudevan, Pradeep, Connell, Fiona C., van Impel, Andreas, Moore, Anthony T., Loeys, Bart L., Ghalamkarpour, Arash, Onoufriadis, Alexandros, Martinez-Corral, Ines, Devery, Sophie, Leroy, Jules G., van Laer, Lut, Singer, Amihood, Bialer, Martin G., McEntagart, Meriel, Quarrell, Oliver, Brice, Glen, Trembath, Richard C., Schulte-Merker, Stefan, Makinen, Taija, Vikkula, Miikka, Mortimer, Peter S., Mansour, Sahar, Jeffery, Steve
Publicado em 2012

Mutations in the TGF-β Repressor SKI Cause Shprintzen-Goldberg Syndrome with Aortic Aneurysm

Por Doyle, Alexander J., Doyle, Jefferson J., Bessling, Seneca L., Maragh, Samantha, Lindsay, Mark E., Schepers, Dorien, Gillis, Elisabeth, Mortier, Geert, Homfray, Tessa, Sauls, Kimberly, Norris, Russell A., Huso, Nicholas D., Leahy, Dan, Mohr, David W., Caulfield, Mark J., Scott, Alan F., Destrée, Anne, Hennekam, Raoul C., Arn, Pamela H., Curry, Cynthia J., Van Laer, Lut, McCallion, Andrew S., Loeys, Bart L., Dietz, Harry C.
Publicado em 2012

Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy

Por Lacro, Ronald V., Guey, Lin T., Dietz, Harry C., Pearson, Gail D., Yetman, Anji T., Gelb, Bruce D., Loeys, Bart L., Benson, D. Woodrow, Bradley, Timothy J., De Backer, Julie, Forbus, Geoffrey A., Klein, Gloria L., Lai, Wyman W., Levine, Jami C., Lewin, Mark B., Markham, Larry W., Paridon, Stephen M., Pierpont, Mary Ella, Radojewski, Elizabeth, Selamet Tierney, Elif Seda, Sharkey, Angela M., Wechsler, Stephanie Burns, Mahony, Lynn
Publicado em 2013

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Por Lindsay, Mark E., Schepers, Dorien, Ajit Bolar, Nikhita, Doyle, Jefferson, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J.E., Fishman, Elliot K., Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdullah F., Levy, Howard P., Anderlid, Britt-Marie, Yang, Margaret H., Bongers, Ernie M.H.F., Timmermans, Janneke, Braverman, Alan C., Canham, Natalie, Mortier, Geert R., Brunner, Han G., Byers, Peter H., Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L.
Publicado em 2012

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

Por Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.
Publicado no Am J Hum Genet (2016)

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

Por Gillis, Elisabeth, Kumar, Ajay A., Luyckx, Ilse, Preuss, Christoph, Cannaerts, Elyssa, van de Beek, Gerarda, Wieschendorf, Björn, Alaerts, Maaike, Bolar, Nikhita, Vandeweyer, Geert, Meester, Josephina, Wünnemann, Florian, Gould, Russell A., Zhurayev, Rustam, Zerbino, Dmytro, Mohamed, Salah A., Mital, Seema, Mertens, Luc, Björck, Hanna M., Franco-Cereceda, Anders, McCallion, Andrew S., Van Laer, Lut, Verhagen, Judith M. A., van de Laar, Ingrid M. B. H., Wessels, Marja W., Messas, Emmanuel, Goudot, Guillaume, Nemcikova, Michaela, Krebsova, Alice, Kempers, Marlies, Salemink, Simone, Duijnhouwer, Toon, Jeunemaitre, Xavier, Albuisson, Juliette, Eriksson, Per, Andelfinger, Gregor, Dietz, Harry C., Verstraeten, Aline, Loeys, Bart L.
Publicado no Front Physiol (2017)

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

Por Bertoli-Avella, Aida M., Gillis, Elisabeth, Morisaki, Hiroko, Verhagen, Judith M.A., de Graaf, Bianca M., van de Beek, Gerarda, Gallo, Elena, Kruithof, Boudewijn P.T., Venselaar, Hanka, Myers, Loretha A., Laga, Steven, Doyle, Alexander J., Oswald, Gretchen, van Cappellen, Gert W.A., Yamanaka, Itaru, van der Helm, Robert M., Beverloo, Berna, de Klein, Annelies, Pardo, Luba, Lammens, Martin, Evers, Christina, Devriendt, Koenraad, Dumoulein, Michiel, Timmermans, Janneke, Bruggenwirth, Hennie T., Verheijen, Frans, Rodrigus, Inez, Baynam, Gareth, Kempers, Marlies, Saenen, Johan, Van Craenenbroeck, Emeline M., Minatoya, Kenji, Matsukawa, Ritsu, Tsukube, Takuro, Kubo, Noriaki, Hofstra, Robert, Goumans, Marie Jose, Bekkers, Jos A., Roos-Hesselink, Jolien W., van de Laar, Ingrid M.B.H., Dietz, Harry C., Van Laer, Lut, Morisaki, Takayuki, Wessels, Marja W., Loeys, Bart L.
Publicado no J Am Coll Cardiol (2015)

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Por Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Hoffman, Jodi D, Mühlbauer, Wolfgang, Ruprecht, Klaus W, Loeys, Bart L, Shino, Masato, Kaindl, Angela M, Cho, Chie-Hee, Morton, Cynthia C, Meehan, Richard R, van Heyningen, Veronica, Liao, Eric C, Balasubramanian, Ravikumar, Hall, Janet E, Seminara, Stephanie B, Macarthur, Daniel, Moore, Steven A, Yoshiura, Koh-ichiro, Gusella, James F, Marsh, Joseph A, Graham, John M, Lin, Angela E, Katsanis, Nicholas, Jones, Peter L, Crowley, William F, Davis, Erica E, FitzPatrick, David R, Talkowski, Michael E
Publicado no Nat Genet (2017)

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Por Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R.F., Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E.L.M., Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje W.M., Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen L.I., Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, Kleefstra, Tjitske
Publicado no Am J Hum Genet (2015)