Genetic architecture of retinoic-acid signaling-associated ocular developmental defects von Nedelec, B., Rozet, J.-M., Fares Taie, L.

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Implication of non-coding PAX6 mutations in aniridia von Plaisancié, Julie, Tarilonte, M., Ramos, P., Jeanton-Scaramouche, C., Gaston, V., Dollfus, H., Aguilera, D., Kaplan, J., Fares-Taie, L., Blanco-Kelly, F., Villaverde, C., Francannet, C., Goldenberg, A., Arroyo, I., Rozet, J. M., Ayuso, C., Chassaing, N., Calvas, P., Corton, M.

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Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A von VENCESLÁ, A., BAENA, M., FARES TAIE, L., CORNET, M., BAIGET, M., TIZZANO, E. F.

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Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations von Papon, J F, Perrault, I, Coste, A, Louis, B, Gérard, X, Hanein, S, Fares-Taie, L, Gerber, S, Defoort-Dhellemmes, S, Vojtek, A M, Kaplan, J, Rozet, J M, Escudier, E

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Specific gene in microphthalmia von Rozet, J.M., Fares‐Taïe, L., Chassaing, N., Gerber, S., Kaplan, J., Ragge, N., Calvas, P.

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Genetics in microphthalmia von Calvas, P., Davis, E., Ragge, N., Fares‐Taïe, L., Srour, M., Michaud, J., Kaplan, J., Rozet, J.M., Chassaing, N.

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Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia von Erjavec, Elisa, Angée, Clémentine, Hadjadj, Djihad, Passet, Bruno, David, Pierre, Kostic, Corinne, Dodé, Emmanuel, Zanlonghi, Xavier, Cagnard, Nicolas, Nedelec, Brigitte, Crippa, Sylvain V., Bole-Feysot, Christine, Zarhrate, Mohammed, Creuzet, Sophie, Castille, Johan, Vilotte, Jean-Luc, Calvas, Patrick, Plaisancié, Julie, Chassaing, Nicolas, Kaplan, Josseline, Rozet, Jean-Michel, Fares Taie, Lucas

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Impact of socio-economic status on the prevalence of severe hypertriglyceridemia in Argentina von Corral, P., Sáenz, B., Blautzik, F., Taie, L. Fares, Larrieu, L. Rosa, Bilbao, M., Sayanes, M., Matta, M.

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Is the modification of the 13q32.1 regulatory landscape the cause of congenital microcoria?

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules von Dodd, Daniel O, Mechaussier, Sabrina, Yeyati, Patricia L, McPhie, Fraser, Anderson, Jacob R, Khoo, Chen Jing, Shoemark, Amelia, Gupta, Deepesh K, Attard, Thomas, Zariwala, Maimoona A, Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Fassad, Mahmoud R, Parry, David A, Tennant, Peter A, Meynert, Alison, Wheway, Gabrielle, Fares-Taie, Lucas, Black, Holly A, Mitri-Frangieh, Rana, Faucon, Catherine, Kaplan, Josseline, Patel, Mitali, McKie, Lisa, Megaw, Roly, Gatsogiannis, Christos, Mohamed, Mai A, Aitken, Stuart, Gautier, Philippe, Reinholt, Finn R, Hirst, Robert A, O'Callaghan, Chris, Heimdal, Ketil, Bottier, Mathieu, Escudier, Estelle, Crowley, Suzanne, Descartes, Maria, Jabs, Ethylin W, Kenia, Priti, Amiel, Jeanne, Bacci, Giacomo Maria, Calogero, Claudia, Palazzo, Viviana, Tiberi, Lucia, Blümlein, Ulrike, Rogers, Andrew, Wambach, Jennifer A, Wegner, Daniel J, Fulton, Anne B, Kenna, Margaret, Rosenfeld, Margaret, Holm, Ingrid A, Quigley, Alan, Hall, Emma A, Murphy, Laura C, Cassidy, Diane M, von Kriegsheim, Alex, Papon, Jean-François, Pasquier, Laurent, Murris, Marlène S, Chalmers, James D, Hogg, Claire, Macleod, Kenneth A, Urquhart, Don S, Unger, Stefan, Aitman, Timothy J, Amselem, Serge, Leigh, Margaret W, Knowles, Michael R, Omran, Heymut, Mitchison, Hannah M, Brown, Alan, Marsh, Joseph A, Welburn, Julie P I, Ti, Shih-Chieh, Horani, Amjad, Rozet, Jean-Michel, Perrault, Isabelle, Mill, Pleasantine

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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment von Zanetti, Andrea, Dujardin, Gwendal, Fares-Taie, Lucas, Amiel, Jeanne, Roger, Jérôme E., Audo, Isabelle, Robert, Matthieu P., David, Pierre, Jung, Vincent, Goudin, Nicolas, Guerrera, Ida Chiara, Moriceau, Stéphanie, Amana, Danielle, Assia Batzir, Nurit, Bachar-Zipori, Anat, Basel Salmon, Lina, Boddaert, Nathalie, Briault, Sylvain, Bruel, Ange-Line, Costet-Fighiera, Christine, Coutinho Santos, Luisa, Gitiaux, Cyril, Kaminska, Karolina, Kuentz, Paul, Orenstein, Naama, Philip-Sarles, Nicole, Plutino, Morgane, Quinodoz, Mathieu, Santos, Cristina, Sigaudy, Sabine, Soeiro e Sá, Mariana, Sofrin, Efrat, Sousa, Ana Berta, Sousa-Luis, Rui, Thauvin-Robinet, Christel, van Dijk, Erwin L., Zaafrane-Khachnaoui, Khaoula, Zur, Dinah, Kaplan, Josseline, Rivolta, Carlo, Rozet, Jean-Michel, Perrault, Isabelle

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Rationale, design, and baseline characteristics for a large international trial of cardiovascular disease prevention in people with dysglycemia: The ORIGIN Trial (Outcome Reduction... von Gerstein, Hertzel, Yusuf, Salim, Riddle, Matthew C, Ryden, Lars, Bosch, Jackie

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SUN-LB061 Midnight Salivary Cortisol (MiSC): Diagnostic Concordance in a Normal Sample Population Using Different Immunoassays von KOZAK, AE, FENILI, CA, SEQUERA, AM, TORRES, M, RUIBAL, GF, OTERO, P, FARELO, H, GURFINKIEL, M, AVILA, V, BENVEGNÚ, C, BONELLI, AL, BRENZONI, P, BURGAR, M, BUSSETTI, J, CANOVAS, E, CHAZARRETA, A, CUCCHI, ME, DEVALLE, ML, FABBRO, D, FARES TAIE, S, GALVEZ, P, GARCIA, R, GIACCOBONI, D, GÓMEZ, M, GOTTA, G, IZAGUIRRE, A, LANDERRECHE, M, LEZCANO, ML, LOTERO POLESEL, D, MIRA, R, MURANO, MS, NIETO, L, PAZ , V, PISSONI, C, RAÑA, M, RICCI, V, SABATINI, M, SALTOS, M, SINGH, L, SOTERAS, S, SUPINO, C, TEVEZ, I, TORRES, F, TORRES, MC, VILLAGGI  VIÑUELA , C, WARGON , V, YABBUR , MS, ZAWADA , L

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Hematology and serum chemistry of female South American fur seals (Arctocephalus australis) from Isla de Lobos , Uruguay von Polizzi, P., Fares Taie, S., Romero, M.B., Ponce de León, A., Davis, R.W., Dolagaratz Carricavur, A., Chiodi Boudet, L., Rodríguez, D., Gerpe, M.

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