未登录Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women
Patino-Salazar, J. D.; Ovejero, D.; Gabernet, M.; Martinez-Gil, N.; Alcaide-Consuegra, E.; Mellibovsky, L.; Nogues, X.; Grinberg, D.; Balcells, S.; Rabionet, R.; Garcia-Giralt, N. .png)
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收藏分享 收藏 分享 收藏 Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review扩大TRAF7-Related心脏，面部和数字异常的表型谱与发育迟缓: 11例新病例报告和文献复习Palma-Milla, Carmen; Prat-Planas, Aina; Soengas-Gonda, Emma; Centeno-Pla, Monica; Sanchez-Pozo, Jaime; Lazaro-Rodriguez, Irene; Quesada-Espinosa, Juan F.; Arteche-Lopez, Ana; Olival, Jonathan; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Cancho-Candela, Ramon; Vazquez-Lopez, Maria; Seidel, Veronica; Martinez-Monseny, Antonio F.; Casas-Alba, Didac; Grinberg, Daniel; Balcells, Susanna; Serrano, Mercedes; Rabionet, Raquel; Martin, Miguel A.; Urreizti, Roser 分享 收藏 A perspective on muscle phenotyping in musculoskeletal research肌肉骨骼研究中肌肉表型的展望Foessl, Ines; Ackert-Bicknell, Cheryl L.; Kague, Erika; Laskou, Faidra; Jakob, Franz; Karasik, David; Obermayer-Pietsch, Barbara; Alonso, Nerea; Bjornerem, Ashild; Brandi, Maria Luisa; Busse, Bjorn; Calado, Angelo; Cebi, Alper Han; Christou, Maria; Curran, Kathleen M.; Hald, Jannie Dahl; Semeraro, Maria Donatella; Douni, Eleni; Duncan, Emma L.; Duran, Ivan; Formosa, Melissa M.; Gabet, Yankel; Ghatan, Samuel; Gkitakou, Artemis; Hassler, Eva Maria; Hogler, Wolfgang; Heino, Terhi J.; Hendrickx, Gretl; Khashayar, Patricia; Kiel, Douglas P.; Koromani, Fjorda; Langdahl, Bente; Lopes, Philippe; Makitie, Outi; Maurizi, Antonio; Medina-Gomez, Carolina; Ntzani, Evangelia; Ohlsson, Claes; Prijatelj, Vid; Rabionet, Raquel; Reppe, Sjur; Rivadeneira, Fernando; Roshchupkin, Gennady; Sharma, Neha; Soe, Kent; Styrkarsdottir, Unnur; Szulc, Pavel; Teti, Anna; Tobias, Jon; Valjevac, Amina; van de Peppel, Jeroen; van der Eerden, Bram; van Rietbergen, Bert; Zekic, Tatjana; Zillikens, M. Carola 分享 收藏 分享 收藏 Role of PATJ in stroke prognosis by modulating endothelial to mesenchymal transition through the Hippo/Notch/PI3K axisMedina-Dols, Aina; Canellas, Guillem; Capo, Toni; Sole, Montse; Mola-Caminal, Marina; Cullell, Natalia; Jaume, Marina; Nadal-Salas, Laura; Llinas, Jaume; Gomez, Lluis; Tur, Silvia; Jimenez, Carmen; Diaz, Rosa M.; Carrera, Caty; Muino, Elena; Gallego-Fabrega, Cristina; Soriano-Tarraga, Carolina; Ruiz-Guerra, Laura; Pol-Fuster, Josep; Asensio, Victor; Muncunill, Josep; Fleischer, Aarne; Iglesias, Amanda; Giralt-Steinhauer, Eva; Lazcano, Uxue; Fernandez-Perez, Isabel; Jimenez-Balado, Joan; Gabriel-Salazar, Marina; Garcia-Gabilondo, Miguel; Lei, Ting; Torres-Aguila, Nuria-Paz; Carcel-Marquez, Jara; Llado, Jeronia; Olmos, Gabriel; Rosell, Anna; Montaner, Joan; Planas, Anna M.; Rabionet, Raquel; Hernandez-Guillamon, Mar; Jimenez-Conde, Jordi; Fernandez-Cadenas, Israel; Vives-Bauza, Cristofol 分享 收藏 A sequence of the CIS gene promoter interacts preferentially with two associated STAT5A dimers: a distinct biochemical difference between STAT5A and STAT5BVerdier, F; Rabionet, R; Gouilleux, F; Beisenherz-Huss, C; Varlet, P; Muller, O; Mayeux, P; Lacombe, C; Gisselbrecht, S; Chretien, S 分享 收藏 Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic StrokeJaworek, Thomas; Xu, Huichun; Gaynor, Brady J.; Cole, John W.; Rannikmae, Kristiina; Stanne, Tara M.; Tomppo, Liisa; Abedi, Vida; Amouyel, Philippe; Armstrong, Nicole D.; Attia, John; Bell, Steven; Benavente, Oscar R.; Boncoraglio, Giorgio B.; Butterworth, Adam; Carcel-Marquez, Jara; Chen, Zhengming; Chong, Michael; Cruchaga, Carlos; Cushman, Mary; Danesh, John; Debette, Stephanie; Duggan, David J.; Durda, Jon Peter; Engstrom, Gunnar; Enzinger, Chris; Faul, Jessica D.; Fecteau, Natalie S.; Fernandez-Cadenas, Israel; Gieger, Christian; Giese, Anne-Katrin; Grewal, Raji P.; Grittner, Ulrike; Havulinna, Aki S.; Heitsch, Laura; Hochberg, Marc C.; Holliday, Elizabeth; Hu, Jie; Ilinca, Andreea; Irvin, Marguerite R.; Jackson, Rebecca D.; Jacob, Mina A.; Rabionet, Raquel; Jimenez-Conde, Jordi; Johnson, Julie A.; Kamatani, Yoichiro; Kardia, Sharon L. R.; Koido, Masaru; Kubo, Michiaki; Lange, Leslie; Lee, Jin-Moo; Lemmens, Robin; Levi, Christopher R.; Li, Jiang; Li, Liming; Lin, Kuang; Lopez, Haley; Luke, Sothear; Maguire, Jane; McArdle, Patrick F.; McDonough, Caitrin W.; Meschia, James F.; Metso, Tiina; Mueller-Nurasyid, Martina; O'Connor, Timothy D.; O'Donnell, Martin; Peddareddygari, Leema R.; Pera, Joanna; Perry, James A.; Peters, Annette; Putaala, Jukka; Ray, Debashree; Rexrode, Kathryn; Ribases, Marta; Rosand, Jonathan; Rothwell, Peter M.; Rundek, Tatjana; Ryan, Kathleen A.; Sacco, Ralph L.; Salomaa, Veikko; Sanchez-Mora, Cristina; Schmidt, Reinhold; Sharma, Pankaj; Slowik, Agnieszka; Smith, Jennifer A.; Smith, Nicholas L.; Wassertheil-Smoller, Sylvia; Soderholm, Martin; Stine, O. Colin; Strbian, Daniel; Sudlow, Cathie L. M.; Tatlisumak, Turgut; Terao, Chikashi; Thijs, Vincent; Torres-Aguila, Nuria P.; Tregouet, David-Alexandre; Tuladhar, Anil M.; Veldink, Jan H.; Walters, Robin G.; Weir, David R.; Woo, Daniel; Worrall, Bradford B.; Hong, Charles C.; Ross, Owen A.; Zand, Ramin; de Leeuw, Frank-Erik; Lindgren, Arne G.; Pare, Guillaume; Anderson, Christopher D.; Markus, Hugh S.; Jern, Christina; Malik, Rainer; Dichgans, Martin; Mitchell, Braxton D.; Kittner, Steven J. 分享 收藏 Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2Schaaf-yang综合征病理生理学的进展: 从床边到截短的MAGEL2的亚细胞分析Castilla-Vallmanya, Laura; Centeno-Pla, Monica; Serrano, Mercedes; Franco-Valls, Hector; Martinez-Cabrera, Raul; Prat-Planas, Aina; Rojano, Elena; Ranea, Juan A. G.; Seoane, Pedro; Oliva, Clara; Paredes-Fuentes, Abraham J.; Marfany, Gemma; Artuch, Rafael; Grinberg, Daniel; Rabionet, Raquel; Balcells, Susanna; Urreizti, Roser 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder强迫症中粪便和口咽微生物组的变化Domenech, Laura; Willis, Jesse; Alemany-Navarro, Maria; Morell, Marta; Real, Eva; Escaramis, Georgia; Bertolin, Sara; Sanchez Chinchilla, Daniel; Balcells, Susanna; Segalas, Cinto; Estivill, Xavier; Menchon, Jose M.; Gabaldon, Toni; Alonso, Pino; Rabionet, Raquel 分享 收藏 Exploring Genetic Variants in Obsessive Compulsive Disorder Severity: A GWAS Approach (vol 267, pg 23, 2020)Alemany-Navarro, Maria; Cruz, Raquel; Real, Eva; Segalas, Cinto; Bertolin, Sara; Baenas, Isabel; Domenech, Laura; Rabionet, Raquel; Carracedo, Angel; Menchon, Jose M.; Alonso, Pino 分享 收藏 Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations由于新的高形态PLCG2突变引起的严重自身炎症表现和抗体缺乏Martin-Nalda, Andrea; Fortuny, Claudia; Rey, Lourdes; Bunney, Tom D.; Alsina, Laia; Esteve-Sole, Ana; Bull, Daniel; Carmen Anton, Maria; Basagana, Maria; Casals, Ferran; Deya, Angela; Garcia-Prat, Marina; Gimeno, Ramon; Juan, Manel; Martinez-Banaclocha, Helios; Martinez-Garcia, Juan J.; Mensa-Vilaro, Anna; Rabionet, Raquel; Martin-Begue, Nieves; Rudilla, Francesc; Yague, Jordi; Estivill, Xavier; Garcia-Patos, Vicente; Pujol, Ramon M.; Soler-Palacin, Pere; Katan, Matilda; Pelegrin, Pablo; Colobran, Roger; Vicente, Asun; Arostegui, Juan, I 分享 收藏 Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7与TRAF7种系变异相关的表型谱和转录组谱Castilla-Vallmanya, Laura; Selmer, Kaja K.; Dimartino, Clemantine; Rabionet, Raquel; Blanco-Sanchez, Bernardo; Yang, Sandra; Reijnders, Margot R. F.; van Essen, Antonie J.; Oufadem, Myriam; Vigeland, Magnus D.; Stadheim, Barbro; Houge, Gunnar; Cox, Helen; Kingston, Helen; Clayton-Smith, Jill; Innis, Jeffrey W.; Iascone, Maria; Cereda, Anna; Gabbiadini, Sara; Chung, Wendy K.; Sanders, Victoria; Charrow, Joel; Bryant, Emily; Millichap, John; Vitobello, Antonio; Thauvin, Christel; Mau-Them, Frederic Tran; Faivre, Laurence; Lesca, Gaetan; Labalme, Audrey; Rougeot, Christelle; Chatron, Nicolas; Sanlaville, Damien; Christensen, Katherine M.; Kirby, Amelia; Lewandowski, Raymond; Gannaway, Rachel; Aly, Maha; Lehman, Anna; Clarke, Lorne; Graul-Neumann, Luitgard; Zweier, Christiane; Lessel, Davor; Lozic, Bernarda; Aukrust, Ingvild; Peretz, Ryan; Stratton, Robert; Smol, Thomas; Dieux-Coeslier, Anne; Meira, Joanna; Wohler, Elizabeth; Sobreira, Nara; Beaver, Erin M.; Heeley, Jennifer; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Walker, Melissa A.; Keegan, Catherine E.; Jayakar, Parul; Shinawi, Marwan; Kerstjens-Frederikse, Wilhelmina S.; Earl, Dawn L.; Siu, Victoria M.; Reesor, Emma; Yao, Tony; Hegele, Robert A.; Vaske, Olena M.; Rego, Shannon; Shapiro, Kevin A.; Wong, Brian; Gambello, Michael J.; McDonald, Marie; Karlowicz, Danielle; Colombo, Roberto; Serretti, Alessandro; Pais, Lynn; O'Donnell-Luria, Anne; Wray, Alison; Sadedin, Simon; Chong, Belinda; Tan, Tiong Y.; Christodoulou, John; White, Susan M.; Slavotinek, Anne; Barbouth, Deborah; Swols, Dayna Morel; Parisot, Melanie; Bole-Feysot, Christine; Nitschke, Patrick; Pingault, Veronique; Munnich, Arnold; Cho, Megan T.; Cormier-Daire, Valerie; Balcells, Susanna; Lyonnet, Stanislas; Grinberg, Daniel; Amiel, Jeanne; Urreizti, Roser; Gordon, Christopher T. 分享 收藏 分享 收藏 Exploring genetic variants in obsessive compulsive disorder severity: A GWAS approachAlemany-Navarro, Maria; Cruz, Raquel; Real, Eva; Segalas, Cinto; Bertolin, Sara; Baenas, Isabel; Domenech, Laura; Rabionet, Raquel; Carracedo, Angel; Menchon, Jose M.; Alonso, Pino 分享 收藏 Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies饮食失调和物质使用相关表型之间的共同遗传风险: 来自全基因组关联研究的证据Munn-Chernoff, Melissa A.; Johnson, Emma C.; Chou, Yi-Ling; Coleman, Jonathan R. I.; Thornton, Laura M.; Walters, Raymond K.; Yilmaz, Zeynep; Baker, Jessica H.; Hubel, Christopher; Gordon, Scott; Medland, Sarah E.; Watson, Hunna J.; Gaspar, Helena A.; Bryois, Julien; Hinney, Anke; Leppa, Virpi M.; Mattheisen, Manuel; Ripke, Stephan; Yao, Shuyang; Giusti-Rodriguez, Paola; Hanscombe, Ken B.; Adan, Roger A. H.; Alfredsson, Lars; Ando, Tetsuya; Andreassen, Ole A.; Berrettini, Wade H.; Boehm, Ilka; Boni, Claudette; Boraska Perica, Vesna; Buehren, Katharina; Burghardt, Roland; Cassina, Matteo; Cichon, Sven; Clementi, Maurizio; Cone, Roger D.; Courtet, Philippe; Crow, Scott; Crowley, James J.; Danner, Unna N.; Davis, Oliver S. P.; de Zwaan, Martina; Dedoussis, George; Degortes, Daniela; DeSocio, Janiece E.; Dick, Danielle M.; Dikeos, Dimitris; Dina, Christian; Dmitrzak-Weglarz, Monika; Docampo, Elisa; Duncan, Laramie E.; Egberts, Karin; Ehrlich, Stefan; Escaramis, Georgia; Esko, Tonu; Estivill, Xavier; Farmer, Anne; Favaro, Angela; Fernandez-Aranda, Fernando; Fichter, Manfred M.; Fischer, Krista; Foecker, Manuel; Foretova, Lenka; Forstner, Andreas J.; Forzan, Monica; Franklin, Christopher S.; Gallinger, Steven; Giegling, Ina; Giuranna, Johanna; Gonidakis, Fragiskos; Gorwood, Philip; Gratacos Mayora, Monica; Guillaume, Sebastien; Guo, Yiran; Hakonarson, Hakon; Hatzikotoulas, Konstantinos; Hauser, Joanna; Hebebrand, Johannes; Helder, Sietske G.; Herms, Stefan; Herpertz-Dahlmann, Beate; Herzog, Wolfgang; Huckins, Laura M.; Hudson, James I.; Imgart, Hartmut; Inoko, Hidetoshi; Janout, Vladimir; Jimenez-Murcia, Susana; Julia, Antonio; Kalsi, Gursharan; Kaminska, Deborah; Karhunen, Leila; Karwautz, Andreas; Kas, Martien J. H.; Kennedy, James L.; Keski-Rahkonen, Anna; Kiezebrink, Kirsty; Kim, Youl-Ri; Klump, Kelly L.; Knudsen, Gun Peggy S.; La Via, Maria C.; Le Hellard, Stephanie; Levitan, Robert D.; Li, Dong; Lilenfeld, Lisa; Lin, Bochao Danae; Lissowska, Jolanta; Luykx, Jurjen; Magistretti, Pierre J.; Maj, Mario; Mannik, Katrin; Marsal, Sara; Marshall, Christian R.; Mattingsdal, Morten; McDevitt, Sara; McGuffin, Peter; Metspalu, Andres; Meulenbelt, Ingrid; Micali, Nadia; Mitchell, Karen; Monteleone, Alessio Maria; Monteleone, Palmiero; Nacmias, Benedetta; Navratilova, Marie; Ntalla, Ioanna; O'Toole, Julie K.; Ophoff, Roel A.; Padyukov, Leonid; Palotie, Aarno; Pantel, Jacques; Papezova, Hana; Pinto, Dalila; Rabionet, Raquel; Raevuori, Anu; Ramoz, Nicolas; Reichborn-Kjennerud, Ted; Ricca, Valdo; Ripatti, Samuli; Ritschel, Franziska; Roberts, Marion; Rotondo, Alessandro; Rujescu, Dan; Rybakowski, Filip; Santonastaso, Paolo; Scherag, Andre; Scherer, Stephen W.; Schmidt, Ulrike; Schork, Nicholas J.; Schosser, Alexandra; Seitz, Jochen; Slachtova, Lenka; Slagboom, P. Eline; Slof-Op't Landt, Margarita C. T.; Slopien, Agnieszka; Sorbi, Sandro; Swiatkowska, Beat; Szatkiewicz, Jin P.; Tachmazidou, Ioanna; Tenconi, Elena; Tortorella, Alfonso; Tozzi, Federica; Treasure, Janet; Tsitsika, Artemis; Tyszkiewicz-Nwafor, Marta; Tziouvas, Konstantinos; van Elburg, Annemarie A.; van Furth, Eric F.; Wagner, Gudrun; Walton, Esther; Widen, Elisabeth; Zeggini, Eleftheria; Zerwas, Stephanie; Zipfel, Stephan; Bergen, Andrew W.; Boden, Joseph M.; Brandt, Harry; Crawford, Steven; Halmi, Katherine A.; Horwood, L. John; Johnson, Craig; Kaplan, Allan S.; Kaye, Walter H.; Mitchell, James; Olsen, Catherine M.; Pearson, John F.; Pedersen, Nancy L.; Strober, Michael; Werge, Thomas; Whiteman, David C.; Woodside, D. Blake; Grove, Jakob; Henders, Anjali K.; Larsen, Janne T.; Parker, Richard; Petersen, Liselotte V.; Jordan, Jennifer; Kennedy, Martin A.; Birgegard, Andreas; Lichtenstein, Paul; Norring, Claes; Landen, Mikael; Mortensen, Preben Bo; Polimanti, Renato; McClintick, Jeanette N.; Adkins, Amy E.; Aliev, Fazil; Bacanu, Silviu-Alin; Batzler, Anthony; Bertelsen, Sarah; Biernacka, Joanna M.; Bigdeli, Tim B.; Chen, Li-Shiun; Clarke, Toni-Kim; Degenhardt, Franziska; Docherty, Anna R.; Edwards, Alexis C.; Foo, Jerome C.; Fox, Louis; Frank, Josef; Hack, Laura M.; Hartmann, Annette M.; Hartz, Sarah M.; Heilmann-Heimbach, Stefanie; Hodgkinson, Colin; Hoffmann, Per; Hottenga, Jouke-Jan; Konte, Bettina; Lahti, Jari; Lahti-Pulkkinen, Marius; Lai, Dongbing; Ligthart, Lannie; Loukola, Anu; Maher, Brion S.; Mbarek, Hamdi; McIntosh, Andrew M.; McQueen, Matthew B.; Meyers, Jacquelyn L.; Milaneschi, Yuri; Palviainen, Teemu; Peterson, Roseann E.; Ryu, Euijung; Saccone, Nancy L.; Salvatore, Jessica E.; Sanchez-Roige, Sandra; Schwandt, Melanie; Sherva, Richard; Streit, Fabian; Strohmaier, Jana; Thomas, Nathaniel; Wang, Jen-Chyong; Webb, Bradley T.; Wedow, Robbee; Wetherill, Leah; Wills, Amanda G.; Zhou, Hang; Boardman, Jason D.; Chen, Danfeng; Choi, Doo-Sup; Copeland, William E.; Culverhouse, Robert C.; Dahmen, Norbert; Degenhardt, Louisa; Domingue, Benjamin W.; Frye, Mark A.; Gabel, Wolfgang; Hayward, Caroline; Ising, Marcus; Keyes, Margaret; Kiefer, Falk; Koller, Gabriele; Kramer, John; Kuperman, Samuel; Lucae, Susanne; Lynskey, Michael T.; Maier, Wolfgang; Mann, Karl; Maennistoe, Satu; Mueller-Myhsok, Bertram; Murray, Alison D.; Nurnberger, John I.; Preuss, Ulrich; Raikkonen, Katri; Reynolds, Maureen D.; Ridinger, Monika; Scherbaum, Norbert; Schuckit, Marc A.; Soyka, Michael; Treutlein, Jens; Witt, Stephanie H.; Wodarz, Norbert; Zill, Peter; Adkins, Daniel E.; Boomsma, Dorret I.; Bierut, Laura J.; Brown, Sandra A.; Bucholz, Kathleen K.; Costello, E. Jane; De Wit, Harriet; Diazgranados, Nancy; Eriksson, Johan G.; Farrer, Lindsay A.; Foroud, Tatiana M.; Gillespie, Nathan A.; Goate, Alison M.; Goldman, David; Grucza, Richard A.; Hancock, Dana B.; Harris, Kathleen Mullan; Hesselbrock, Victor; Hewitt, John K.; Hopfer, Christian J.; Iacono, William G.; Johnson, Eric O.; Karpyak, Victor M.; Kendler, Kenneth S.; Kranzler, Henry R.; Krauter, Kenneth; Lind, Penelope A.; McGue, Matt; MacKillop, James; Madden, Pamela A. F.; Maes, Hermine H.; Magnusson, Patrik K. E.; Nelson, Elliot C.; Noethen, Markus M.; Palmer, Abraham A.; Penninx, Brenda W. J. H.; Porjesz, Bernice; Rice, John P.; Rietschel, Marcella; Riley, Brien P.; Rose, Richard J.; Shen, Pei-Hong; Silberg, Judy; Stallings, Michael C.; Tarter, Ralph E.; Vanyukov, Michael M.; Vrieze, Scott; Wall, Tamara L.; Whitfield, John B.; Zhao, Hongyu; Neale, Benjamin M.; Wade, Tracey D.; Heath, Andrew C.; Montgomery, Grant W.; Martin, Nicholas G.; Sullivan, Patrick F.; Kaprio, Jaakko; Breen, Gerome; Gelernter, Joel; Edenberg, Howard J.; Bulik, Cynthia M.; Agrawal, Arpana 分享 收藏 
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