Effects of colesevelam on LDL-C, A1c and GLP-1 levels in patients with type 1 diabetes: a pilot randomized double-blind trial by Garg, S. K., Ritchie, P. J., Moser, E. G., Snell-Bergeon, J. K., Freson, B. J., Hazenfield, R. M.

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Distinct neurological disorders with ATP1A3 mutations by Heinzen, Erin L, Dr, Arzimanoglou, Alexis, MD, Brashear, Allison, Prof, Clapcote, Steven J, PhD, Gurrieri, Fiorella, Prof, Goldstein, David B, Prof, Jóhannesson, Sigurður H, Mikati, Mohamad A, Prof, Neville, Brian, Prof, Nicole, Sophie, PhD, Ozelius, Laurie J, PhD, Poulsen, Hanne, PhD, Schyns, Tsveta, PhD, Sweadner, Kathleen J, PhD, van den Maagdenberg, Arn, Prof, Vilsen, Bente, Prof

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Pituitary adenylate cyclase‐activating polypeptide deficiency associated with increased platelet count and aggregability in nephrotic syndrome by Eneman, B., Freson, K., Heuvel, L., hoyweghen, E., Collard, L., Vande Walle, J., Geet, C., Levtchenko, E.

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Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders by Westbury, Sarah K, Turro, Ernest, Greene, Daniel, Lentaigne, Claire, Kelly, Anne M, Bariana, Tadbir K, Simeoni, Ilenia, Pillois, Xavier, Attwood, Antony, Austin, Steve, Jansen, Sjoert Bg, Bakchoul, Tamam, Crisp-Hihn, Abi, Erber, Wendy N, Favier, Rémi, Foad, Nicola, Gattens, Michael, Jolley, Jennifer D, Liesner, Ri, Meacham, Stuart, Millar, Carolyn M, Nurden, Alan T, Peerlinck, Kathelijne, Perry, David J, Poudel, Pawan, Schulman, Sol, Schulze, Harald, Stephens, Jonathan C, Furie, Bruce, Robinson, Peter N, van Geet, Chris, Rendon, Augusto, Gomez, Keith, Laffan, Michael A, Lambert, Michele P, Nurden, Paquita, Ouwehand, Willem H, Richardson, Sylvia, Mumford, Andrew D, Freson, Kathleen

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Proteomic analysis of platelet N -glycoproteins in PMM2-CDG patients by de la Morena-Barrio, M.E, Di Michele, M, Lozano, M.L, Rivera, J, Pérez-Dueñas, B, Altisent, C, Sevivas, T, Vicente, V, Jaeken, J, Freson, K, Corral, J

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The Human Phenotype Ontology in 2017 by Köhler, Sebastian, Vasilevsky, Nicole A., Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M., Boerkoel, Cornelius F., Boycott, Kym M., Brudno, Michael, Buske, Orion J., Chinnery, Patrick F., Cipriani, Valentina, Connell, Laureen E., Dawkins, Hugh J. S., DeMare, Laura E., Devereau, Andrew D., de Vries, Bert B. A., Firth, Helen V., Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A., James, Roger, Krause, Roland, F. Laulederkind, Stanley J., Lochmüller, Hanns, Lyon, Gholson J., Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H., Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H., Segal, Michael, Sergouniotis, Panagiotis I., Sever, Richard, Smith, Cynthia L., Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke W. M., Vulliamy, Tom, Yu, Jing, von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius O. B., Groza, Tudor, Smedley, Damian, Mungall, Christopher J., Haendel, Melissa, Robinson, Peter N.

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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data by Köhler, Sebastian, Doelken, Sandra C., Mungall, Christopher J., Bauer, Sebastian, Firth, Helen V., Bailleul-Forestier, Isabelle, Black, Graeme C. M., Brown, Danielle L., Brudno, Michael, Campbell, Jennifer, FitzPatrick, David R., Eppig, Janan T., Jackson, Andrew P., Freson, Kathleen, Girdea, Marta, Helbig, Ingo, Hurst, Jane A., Jähn, Johanna, Jackson, Laird G., Kelly, Anne M., Ledbetter, David H., Mansour, Sahar, Martin, Christa L., Moss, Celia, Mumford, Andrew, Ouwehand, Willem H., Park, Soo-Mi, Riggs, Erin Rooney, Scott, Richard H., Sisodiya, Sanjay, Vooren, Steven Van, Wapner, Ronald J., Wilkie, Andrew O. M., Wright, Caroline F., Vulto-van Silfhout, Anneke T., Leeuw, Nicole de, de Vries, Bert B. A., Washingthon, Nicole L., Smith, Cynthia L., Westerfield, Monte, Schofield, Paul, Ruef, Barbara J., Gkoutos, Georgios V., Haendel, Melissa, Smedley, Damian, Lewis, Suzanna E., Robinson, Peter N.

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Experimental models of CKD by Kanlaya, R., Sintiprungrat, K., Thongboonkerd, V., Torremade, N., Bindels, R., Hoenderop, J., Fernandez, E., Dusso, A., Valdivielso, J. M., Krueger, T., Boor, P., Schafer, C., Westenfeld, R., Brandenburg, V., Schlieper, G., Jahnen-Dechent, W., Ketteler, M., Jee, W., Li, X., Richards, B., Floege, J., Goncalves, J. G., Canale, D., de Braganca, A. C., Shimizu, M. H. M., Moyses, R. M. A., Andrade, L., Seguro, A. C., Volpini, R. A., Romoli, S., Migliorini, A., Anders, H.-J., Eskova, O., Neprintseva, N., Tchebotareva, N., Bobkova, I., Kozlovskaya, L., Simic, I., Tabatabaeifar, M., Wlodkowski, T., Denc, H., Mollet, G., Antignac, C., Schaefer, F., Ekaterina, I. A., Giardino, L., Rastaldi, M. P., Van den Heuvel, L., Levtchenko, E., Okina, C., Okamoto, T., Kamata, M., Murano, J., Kobayashi, K., Takeuchi, K., Kamata, F., Sakai, T., Naito, S., Aoyama, T., Sano, T., Takeuchi, Y., Kamata, K., Thomasova, D., Bruns, H. A., Liapis, H., Iwashita, T., Hasegawa, H., Takayanagi, K., Shimizu, T., Asakura, J., Okazaki, S., Kogure, Y., Hatano, M., Hara, H., Inamura, M., Iwanaga, M., Mitani, T., Mitarai, T., Savin, V. J., Sharma, M., Wei, C., Reiser, J., McCarthy, E. T., Sharma, R., Gauchat, J.-F., Eneman, B., Freson, K., Van Geet, C., Choi, D. E., Jeong, J. Y., Chang, Y. K., Lee, K. W., Shin, Y. T., Ni, H.-F., Chen, J.-F., Zhang, M.-H., Pan, M.-M., Liu, B.-C., Kim, S. S.

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The Impact of an Aquatic Exercise Protocol on Physiologic Measures Within an Asthmatic Population by Hildenbrand, Kasee, Freson, Timothy S., Barbosa-Leiker, Celestina, Nordio, Sara, Becker, Bruce E., Miller, Ashley J.

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Inactivating PTH/PTHrP Signalling Disorder (iPPSD), une nouvelle proposition de classification pour les pseudohypoparathyroïdies par le réseau européen EuroPHP by Thiele, S, Mantovani, G, Barlier, A, De Sanctis, L, Freson, K, Garin, I, Hanna, P, Lecumberri, B, Pereda, A, Saraff, V, Silve, C, Turan, S, Usardi, A, De Nanclares, G. Perez, Linglart, A

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