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

Volltext

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia von Gorman, Kathleen M, Meyer, Esther, Grozeva, Detelina, Spinelli, Egidio, McTague, Amy, Sanchis-Juan, Alba, Carss, Keren J, Bryant, Emily, Reich, Adi, Schneider, Amy L, Pressler, Ronit M, Simpson, Michael A, Debelle, Geoff D, Wassmer, Evangeline, Morton, Jenny, Sieciechowicz, Diana, Jan-Kamsteeg, Eric, Paciorkowski, Alex R, King, Mary D, Cross, J. Helen, Poduri, Annapurna, Mefford, Heather C, Scheffer, Ingrid E, Haack, Tobias B, McCullagh, Gary, Millichap, John J, Carvill, Gemma L, Clayton-Smith, Jill, Maher, Eamonn R, Raymond, F. Lucy, Kurian, Manju A

Volltext

Distinct neurological disorders with ATP1A3 mutations von 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

Volltext

Use of Continuous Glucose Monitoring in Subjects With Type 1 Diabetes on Multiple Daily Injections Versus Continuous Subcutaneous Insulin Infusion Therapy: A prospective 6-month st... von Garg, Satish K, Voelmle, Mary K, Beatson, Christie R, Miller, Hayley A, Crew, Lauren B, Freson, Brandon J, Hazenfield, Rachel M

Volltext

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

Volltext

Genetic association analysis of 77,539 genomes reveals rare disease etiologies von Greene, D, Genomics England Research Consortium, Pirri, D, Frudd, K, Sackey, E, Al-Owain, M, Giese, A, Ramzan, K, Riaz, S, Yamanaka, I, Boeckx, N, Thys, C, Gelb, B, Brennan, P, Hartill, V, Harvengt, J, Kosho, T, Mansour, S, Masuno, M, Ohata, T, Stewart, H, Taibah, K, Turner, C, Imtiaz, F, Riazuddin, S, Morisaki, T, Ostergaard, P, Loeys, B, Morisaki, H, Ahmed, Z, Birdsey, G, Freson, K, Mumford, A, Turro, E

Volltext

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders von 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

Volltext

Proteomic analysis of platelet N -glycoproteins in PMM2-CDG patients von 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

Volltext

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome von Sims, Matthew C, Mayer, Louisa, Collins, Janine H, Bariana, Tadbir K, Megy, Karyn, Lavenu-Bombled, Cecile, Seyres, Denis, Kollipara, Laxmikanth, Burden, Frances S, Greene, Daniel, Lee, Dave, Rodriguez-Romera, Antonio, Alessi, Marie-Christine, Astle, William J, Bahou, Wadie F, Bury, Loredana, Chalmers, Elizabeth, Da Silva, Rachael, De Candia, Erica, Deevi, Sri V.V, Farrow, Samantha, Gomez, Keith, Grassi, Luigi, Greinacher, Andreas, Gresele, Paolo, Hart, Dan, Hurtaud, Marie-Francoise, Kelly, Anne M, Kerr, Ron, Le Quellec, Sandra, Leblanc, Thierry, Leinoe, Eva B, Mapeta, Rutendo, McKinney, Harriet, Michelson, Alan D, Morais, Sara, Nugent, Diane, Papadia, Sofia, Park, Soo J, Pasi, John, Podda, Gian Marco, Poon, Man-Chiu, Reed, Rachel, Sekhar, Mallika, Shalev, Hanna, Sivapalaratnam, Suthesh, Steinberg-Shemer, Orna, Stephens, Jonathan C, Tait, Robert C, Turro, Ernest, Wu, John K.M, Zieger, Barbara, Kuijpers, Taco W, Whetton, Anthony D, Sickmann, Albert, Freson, Kathleen, Downes, Kate, Erber, Wendy N, Frontini, Mattia, Nurden, Paquita, Ouwehand, Willem H, Favier, Remi, Guerrero, Jose A

Volltext

Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function von Chan, MV, Hayman, MA, Sivapalaratnam, S, Crescente, M, Allan, HE, Edin, ML, Zeldin, DC, Milne, GL, Stephens, J, Greene, D, Hanif, M, O'Donnell, VB, Dong, L, Malkowski, MG, Lentaigne, C, Wedderburn, K, Stubbs, M, Downes, K, Ouwehand, WH, Turro, E, NIHR BioResource, Hart, DP, Freson, K, Laffan, MA, Warner, TD

Volltext

The Human Phenotype Ontology in 2017 von 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.

Volltext

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss von Stritt, Simon, Nurden, Paquita, Turro, Ernest, Greene, Daniel, Jansen, Sjoert B, Westbury, Sarah K, Petersen, Romina, Astle, William J, Marlin, Sandrine, Bariana, Tadbir K, Kostadima, Myrto, Lentaigne, Claire, Maiwald, Stephanie, Papadia, Sofia, Kelly, Anne M, Stephens, Jonathan C, Penkett, Christopher J, Ashford, Sofie, Tuna, Salih, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Favier, Remi, Lambert, Michele P, Mathias, Mary, Millar, Carolyn M, Mapeta, Rutendo, Perry, David J, Schulman, Sol, Simeoni, Ilenia, Thys, Chantal, Gomez, Keith, Erber, Wendy N, Stirrups, Kathleen, Rendon, Augusto, Bradley, John R, van Geet, Chris, Raymond, F. Lucy, Laffan, Michael A, Nurden, Alan T, Nieswandt, Bernhard, Richardson, Sylvia, Freson, Kathleen, Ouwehand, Willem H, Mumford, Andrew D

Volltext

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders von Simeoni, I, Stephens, JC, Hu, F, Deevi, SV, Megy, K, Bariana, TK, Lentaigne, C, Schulman, S, Sivapalaratnam, S, Vries, MJ, Westbury, SK, Greene, D, Papadia, S, Alessi, MC, Attwood, AP, Ballmaier, M, Baynam, G, Bermejo, E, Bertoli, M, Bray, PF, Bury, L, Cattaneo, M, Collins, P, Daugherty, LC, Favier, R, French, DL, Furie, B, Gattens, M, Germeshausen, M, Ghevaert, C, Goodeve, A, Guerrero, J, Hampshire, DJ, Hart, DP, Heemskerk, JW, Henskens, YM, Hill, M, Hogg, N, Jolley, JD, Kahr, WH, Kelly, AM, Kerr, R, Kostadima, M, Kunishima, S, Lambert, MP, Liesner, R, Lopez, J, Mapeta, RP, Mathias, M, Millar, CM, Nathwani, A, Neerman-Arbez, M, Nurden, AT, Nurden, P, Othman, M, Peerlinck, K, Perry, DJ, Poudel, P, Reitsma, P, Rondina, M, Smethurst, PA, Stevenson, W, Szkotak, A, Tuna, S, Van Geet, C, Whitehorn, D, Wilcox, DA, Zhang, B, Revel-Vilk, S, Gresele, P, Bellissimo, D, Penkett, CJ, Laffan, MA, Mumford, AD, Rendon, A, Gomez, K, Freson, K, Ouwehand, WH, Turro, E

Volltext

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss von Stritt, S, Nurden, P, Turro, E, Greene, D, Jansen, SB, Westbury, SK, Petersen, R, Astle, WJ, Marlin, S, Bariana, TK, Kostadima, M, Lentaigne, C, Maiwald, S, Papadia, S, Kelly, AM, Stephens, JC, Penkett, CJ, Ashford, S, Tuna, S, Austin, S, Bakchoul, T, Collins, P, Favier, R, Lambert, MP, Mathias, M, Millar, CM, Mapeta, R, Perry, DJ, Schulman, S, Simeoni, I, Thys, C, BRIDGE-BPD Consortium, Gomez, K, Erber, WN, Stirrups, K, Rendon, A, Bradley, JR, Van Geet, C, Raymond, FL, Laffan, MA, Nurden, AT, Nieswandt, B, Richardson, S, Freson, K, Ouwehand, WH, Mumford, AD

Volltext

Use of Continuous Glucose Monitoring in Subjects With Type 1 Diabetes on Multiple Daily Injections Versus Continuous Subcutaneous Insulin Infusion Therapy von Garg, Satish K., Voelmle, Mary K., Beatson, Christie R., Miller, Hayley A., Crew, Lauren B., Freson, Brandon J., Hazenfield, Rachel M.

Volltext

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data von 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.

Volltext

Experimental models of CKD von 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.

Volltext

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders von Westbury, SK, Turro, E, Greene, D, Lentaigne, C, Kelly, AM, Bariana, TK, Simeoni, I, Pillois, X, Attwood, A, Austin, S, Jansen, SBG, Bakchoul, T, Crisp-Hihn, A, Erber, WN, Favier, R, Foad, N, Gattens, M, Jolley, JD, Liesner, R, Meacham, S, Millar, CM, Nurden, AT, Peerlinck, K, Perry, DJ, Poudel, P, Schulman, S, Schulze, H, Stephens, JC, Furie, B, Robinson, PN, Van Geet, C, Rendon, A, Gomez, K, Laffan, MA, Lambert, MP, Nurden, P, Ouwehand, WH, Richardson, S, Mumford, AD, Freson, K

Volltext

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders von 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

Volltext

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

Volltext