検索結果 - Tiosano, Dov

Mitochondrial Dysfunction in Primary Ovarian Insufficiency 著者: Tiosano, Dov, Mears, Jason A, Buchner, David A

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Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets 著者: Lorenz-Depiereux, Bettina, Schnabel, Dirk, Tiosano, Dov, Häusler, Gabriele, Strom, Tim M.

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Evidence of ERalpha and ERbeta selectivity and partial estrogen agonism in traditional Chinese medicine 著者: Tiosano, Dov, Paris, Françoise, Grimaldi, Marina, Georgescu, Vera, Servant, Nadège, Hochberg, Zeev, Balaguer, Patrick, Sultan, Charles

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In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant 著者: Cohen, Michal, Pignatti, Emanuele, Dines, Monica, Mory, Adi, Ekhilevitch, Nina, Kolodny, Rachel, Flück, Christa E., Tiosano, Dov

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Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes 著者: Grüters-Kieslich, Annette, Reyes, Monica, Sharma, Amita, Demirci, Cem, DeClue, Terry J., Lankes, Erwin, Tiosano, Dov, Schnabel, Dirk, Jüppner, Harald

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SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4 著者: Mandel, Hannah, Shemer, Revital, Borochowitz, Zvi U., Okopnik, Marina, Knopf, Carlos, Indelman, Margarita, Drugan, Arie, Tiosano, Dov, Gershoni-Baruch, Ruth, Choder, Mordechai, Sprecher, Eli

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Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes 著者: Tiosano, Dov, Audi, Laura, Climer, Sharlee, Zhang, Weixiong, Templeton, Alan R., Fernández-Cancio, Monica, Gershoni-Baruch, Ruth, Sánchez-Muro, José Miguel, El Kholy, Mohamed, Hochberg, Zèev

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An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia 著者: Aljuraibah, Fahad, Bacchetta, Justine, Brandi, Maria Luisa, Florenzano, Pablo, Javaid, Muhammad K, Mäkitie, Outimaija, Raimann, Adalbert, Rodriguez, Mariano, Siggelkow, Heide, Tiosano, Dov, Vervloet, Marc, Wagner, Carsten A

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Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3 著者: Lorenz-Depiereux, Bettina, Benet-Pages, Anna, Eckstein, Gertrud, Tenenbaum-Rakover, Yardena, Wagenstaller, Janine, Tiosano, Dov, Gershoni-Baruch, Ruth, Albers, Norbert, Lichtner, Peter, Schnabel, Dirk, Hochberg, Ze’ev, Strom, Tim M.

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TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)() 著者: Molinaro, Angelo, Tiosano, Dov, Takatani, Rieko, Chrysis, Dionisios, Russell, William, Koscielniak, Nikolas, Kottler, Marie-Laure, Agretti, Patrizia, De Marco, Giuseppina, Ahtiainen, Petteri, Christov, Marta, Mäkitie, Outi, Tonacchera, Massimo, Jüppner, Harald

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Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome 著者: Cohen, Michal, Persky, Rebecca, Stegemann, Rachel, Hernández-Ramírez, Laura C, Zeltser, Deena, Lodish, Maya B, Chen, Anlu, Keil, Margaret F, Tatsi, Christina, Faucz, Fabio R, Buchner, David A, Stratakis, Constantine A, Tiosano, Dov

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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency 著者: Chen, Anlu, Tiosano, Dov, Guran, Tulay, Baris, Hagit N, Bayram, Yavuz, Mory, Adi, Shapiro-Kulnane, Laura, Hodges, Craig A, Akdemir, Zeynep C, Turan, Serap, Jhangiani, Shalini N, van den Akker, Focco, Hoppel, Charles L, Salz, Helen K, Lupski, James R, Buchner, David A

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Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis 著者: Dasgupta, Debayan, Wee, Mark J., Reyes, Monica, Li, Yuwen, Simm, Peter J., Sharma, Amita, Schlingmann, Karl-Peter, Janner, Marco, Biggin, Andrew, Lazier, Joanna, Gessner, Michaela, Chrysis, Dionisios, Tuchman, Shamir, Baluarte, H. Jorge, Levine, Michael A., Tiosano, Dov, Insogna, Karl, Hanley, David A., Carpenter, Thomas O., Ichikawa, Shoji, Hoppe, Bernd, Konrad, Martin, Sävendahl, Lars, Munns, Craig F., Lee, Hang, Jüppner, Harald, Bergwitz, Clemens

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Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations 著者: Villanueva, Carine, Jacobson-Dickman, Elka, Xu, Cheng, Manouvrier, Sylvie, Dwyer, Andrew A., Sykiotis, Gerasimos P., Beenken, Andrew, Liu, Yang, Tommiska, Johanna, Hu, Youli, Tiosano, Dov, Gerard, Marion, Leger, Juliane, Drouin-Garraud, Valérie, Lefebvre, Hervé, Polak, Michel, Carel, Jean-Claude, Phan-Hug, Franziska, Hauschild, Michael, Plummer, Lacey, Rey, Jean-Pierre, Raivio, Taneli, Bouloux, Pierre, Sidis, Yisrael, Mohammadi, Moosa, de Roux, Nicolas, Pitteloud, Nelly

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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction 著者: Tiosano, Dov, Baris, Hagit N., Chen, Anlu, Hitzert, Marrit M., Schueler, Markus, Gulluni, Federico, Wiesener, Antje, Bergua, Antonio, Mory, Adi, Copeland, Brett, Gleeson, Joseph G., Rump, Patrick, van Meer, Hester, Sival, Deborah A., Haucke, Volker, Kriwinsky, Josh, Knaup, Karl X., Reis, André, Hauer, Nadine N., Hirsch, Emilio, Roepman, Ronald, Pfundt, Rolph, Thiel, Christian T., Wiesener, Michael S., Aslanyan, Mariam G., Buchner, David A.

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Global Consensus Recommendations on Prevention and Management of Nutritional Rickets 著者: Munns, Craig F., Shaw, Nick, Kiely, Mairead, Specker, Bonny L., Thacher, Tom D., Ozono, Keiichi, Michigami, Toshimi, Tiosano, Dov, Mughal, M. Zulf, Mäkitie, Outi, Ramos-Abad, Lorna, Ward, Leanne, DiMeglio, Linda A., Atapattu, Navoda, Cassinelli, Hamilton, Braegger, Christian, Pettifor, John M., Seth, Anju, Idris, Hafsatu Wasagu, Bhatia, Vijayalakshmi, Fu, Junfen, Goldberg, Gail, Sävendahl, Lars, Khadgawat, Rajesh, Pludowski, Pawel, Maddock, Jane, Hyppönen, Elina, Oduwole, Abiola, Frew, Emma, Aguiar, Magda, Tulchinsky, Ted, Butler, Gary, Högler, Wolfgang

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PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation 著者: Gulluni, Federico, Prever, Lorenzo, Li, Huayi, Krafcikova, Petra, Corrado, Ilaria, Lo, Wen-Ting, Margaria, Jean Piero, Chen, Anlu, De Santis, Maria Chiara, Cnudde, Sophie J., Fogerty, Joseph, Yuan, Alex, Massarotti, Alberto, Sarijalo, Nasrin Torabi, Vadas, Oscar, Williams, Roger L., Thelen, Marcus, Powell, David R., Schüler, Markus, Wiesener, Michael S., Balla, Tamas, Baris, Hagit N., Tiosano, Dov, McDermott, Brian M., Perkins, Brian D., Ghigo, Alessandra, Martini, Miriam, Haucke, Volker, Boura, Evzen, Merlo, Giorgio Roberto, Buchner, David A., Hirsch, Emilio

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Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features 著者: Li, Dong, Wang, Qin, Gong, Naihua N., Kurolap, Alina, Feldman, Hagit Baris, Boy, Nikolas, Brugger, Melanie, Grand, Katheryn, McWalter, Kirsty, Guillen Sacoto, Maria J., Wakeling, Emma, Hurst, Jane, March, Michael E., Bhoj, Elizabeth J., Nowaczyk, Małgorzata J. M., Gonzaga-Jauregui, Claudia, Mathew, Mariam, Dava-Wala, Ashita, Siemon, Amy, Bartholomew, Dennis, Huang, Yue, Lee, Hane, Martinez-Agosto, Julian A., Schwaibold, Eva M. C., Brunet, Theresa, Choukair, Daniela, Pais, Lynn S., White, Susan M., Christodoulou, John, Brown, Dana, Lindstrom, Kristin, Grebe, Theresa, Tiosano, Dov, Kayser, Matthew S., Tan, Tiong Yang, Deardorff, Matthew A., Song, Yuanquan, Hakonarson, Hakon

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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling 著者: Lin, Yuh-Charn, Niceta, Marcello, Muto, Valentina, Vona, Barbara, Pagnamenta, Alistair T., Maroofian, Reza, Beetz, Christian, van Duyvenvoorde, Hermine, Dentici, Maria Lisa, Lauffer, Peter, Vallian, Sadeq, Ciolfi, Andrea, Pizzi, Simone, Bauer, Peter, Grüning, Nana-Maria, Bellacchio, Emanuele, Del Fattore, Andrea, Petrini, Stefania, Shaheen, Ranad, Tiosano, Dov, Halloun, Rana, Pode-Shakked, Ben, Albayrak, Hatice Mutlu, Işık, Emregül, Wit, Jan M., Dittrich, Marcus, Freire, Bruna L., Bertola, Debora R., Jorge, Alexander A.L., Barel, Ortal, Sabir, Ataf H., Al Tenaiji, Amal M.J., Taji, Sulaima M., Al-Sannaa, Nouriya, Al-Abdulwahed, Hind, Digilio, Maria Cristina, Irving, Melita, Anikster, Yair, Bhavani, Gandham S.L., Girisha, Katta M., Haaf, Thomas, Taylor, Jenny C., Dallapiccola, Bruno, Alkuraya, Fowzan S., Yang, Ruey-Bing, Tartaglia, Marco

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