Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype von Morin, Matias, Forst, Anna-Lena, Pérez-Torre, Paula, Jiménez-Escrig, Adriano, Barca-Tierno, Verónica, García-Galloway, Eva, Warth, Richard, Lopez-Sendón Moreno, Jose Luis, Moreno-Pelayo, Miguel Angel

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NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development von Aza-Carmona, Miriam, Barca-Tierno, Veronica, Hisado-Oliva, Alfonso, Belinchón, Alberta, Gorbenko-del Blanco, Darya, Rodriguez, Jose Ignacio, Benito-Sanz, Sara, Campos-Barros, Angel, Heath, Karen E

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Genetic testing for primary aldosteronism in SPAIN: Results from the SPAIN-ALDO Registry and review of the literature von Araujo-Castro, Marta, Ruiz-Sánchez, Jorge Gabriel, Gonzalvo, César, Lamas, Cristina, Parra Ramírez, Paola, Martín Marcos-Rojas, Patricia, Paja, Miguel, Robles Lázaro, Cristina, Michalapou, Theodora, Tous, María, González, Margarita, Recio Córdova, José María, Casteras, Anna, Fernández-Álvarez, Paula, Barca Tierno, Verónica, Mulatero, Paolo

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Constitutional Mutation of PIK3CA : A Variant of Cowden Syndrome? von Vida-Navas, Elena, Barca-Tierno, Verónica, López-Gómez, Victoria, Salazar, María Teresa, Moreno-Pelayo, Miguel A, Guillén-Ponce, Carmen

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Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia von BARCA-TIERNO, Veronica, AZA-CARMONA, Miriam, SANTOS, Fernando, IGNACIO RODRIGUEZ, Jose, POZO, Jesus, ARGENTE, Jesus, KALAYDJIEVA, Luba, GRACIA, Ricardo, CAMPOS-BARROS, Angel, BENITO-SANZ, Sara, HEATH, Karen E, BARROSO, Eva, HEINE-SUNER, Damia, AZMANOV, Dimitar, ROSELL, Jordi, EZQUIETA, Begona, SENTCHORDI MONTANE, Lucia, VENDRELL, Teresa, CRUZ, Jaime

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Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study von Dowty, James G., Lee, Grant, Templeton, Allyson S., Alvarez, Karin, Ankathil, Ravindran, Austin, Rachel, Barca-Tierno, Verónica, Berthet, Pascaline, Boisjoli, Talya, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Coupier, Isabelle, de la Chapelle, Albert, Dębniak, Tadeusz, Della Valle, Adriana, Dominguez-Valentin, Mev, Engel, Christoph, Esperon, Patricia, Foulkes, William, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Giraud, Sophie, Goodwin, Annabel, Green, Kate, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hampel, Heather, Ho, Judy W.C., Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, Jensen, Uffe B, Juhari, Wan K.W., Kloor, Matthias, Kupfer, Sonia S., Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, Lindor, Noralane, Loeffler, Markus, Lucassen, Anneke M, Lynch, Patrick M., Møller, Pål, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Nixon, Dawn M., Palmero, Edenir I., Pande, Mala, Parry, Susan, Pineda, Marta, Qiu, Jay, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Ricciardiello, Luigi, Schulmann, Karsten, Schuster, Helène, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Soto, Jose Luis, Spigelman, Allan, Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Therkildsen, Christina, Thibodeau, Steve, Tucker, Katherine M., Tunca, Berrin, Uhrhammer, Nancy, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Ward, Robyn L., Wise, Paul E., Yamaguchi, Tatsuro, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Jenkins, Mark A.

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SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer von AZA-CARMONA, Miriam, SHEARS, Debbie J, SCAMBLER, Peter J, HEATH, Karen E, YUSTE-CHECA, Patricia, BARCA-TIERNO, Verónica, HISADO-OLIVA, Alfonso, BELINCHON, Alberta, BENITO-SANZ, Sara, RODRIGUEZ, J. Ignacio, ARGENTE, Jesus, CAMPOS-BARROS, Angel

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Local recurrence and metastatic disease in pheochromocytomas and sympathetic paragangliomas von Araujo-Castro, Marta, García Sanz, Iñigo, Mínguez Ojeda, César, Hanzu, Felicia, Mora, Mireia, Vicente, Almudena, Blanco Carrera, Concepción, de Miguel Novoa, Paz, López García, María Del Carmen, Lamas, Cristina, Manjón-Miguélez, Laura, Del Castillo Tous, María, Rodríguez de Vera, Pablo, Barahona San Millán, Rebeca, Recasens, Mónica, Tomé Fernández-Ladreda, Mariana, Valdés, Nuria, Gracia Gimeno, Paola, Robles Lazaro, Cristina, Michalopoulou, Theodora, Álvarez Escolá, Cristina, García Centeno, Rogelio, Barca-Tierno, Verónica, Herrera-Martínez, Aura D, Calatayud, María

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NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development von Aza-Carmona, Miriam, Barca Tierno, Verónica, Hisado Oliva, Alberta, Belinchón, Alberta, Gorbenko del Blanco, Darya, Rodriguez, José Ignacio, Benito Sanz, Sara, Campos Barros, Ángel, Heath, Karen E

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Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium von Møller, Pål, Seppälä, Toni T, Dominguez Valentin, Mev, Bernstein, Inge, Engel, Christoph, Nielsen, Maartje, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Thomas, Huw, Poplawski, Nicola, Aronson, Melyssa, Kohonen Corish, Maija R. J, Lee, Grant, Chen Shtoyerman, Rakefet, Mecklin, Jukka Pekka, Pylvänäinen, Kirsi, Schmiegel, Wolff, Hüneburg, Robert, Gerdes, Anne Marie, Snyder, Carrie, Renkonen Sinisalo, Laura, Lepisto, Anna, Therkildsen, Christina, Heuveline, Vincent, Newcomb, Polly A, Von Knebel Doeberitz, Magnus, Palmero, Edenir, Amor, David, Senter, Leigha, Rahner, Nils, Duijkers, Floor, Hall, Michael J, Buchanan, Daniel D, Hovig, Eivind, Williams, Heinric, Rasmussen, Lene J, Ricciardiello, Luigi, James, Paul, Reece, Jeanette, Ngeow, Joanne, Bassaneze, Thiago, Ward, Robyn, Arnold, Julie, Jenkins, Mark A, Wadt, Karin, Holinski Feder, Elke, Monahan, Kevin, Parry, Susan, Sampson, Julian R, Dębniak, Tadeusz, John, Thomas, Hopper, John L, Gallinger, Steven, Ten Broeke, Sanne W, Caldés, Trinidad, Yamaguchi, Tatsuro, Gluck, Nathan, Garre, Pilar, Kennelly, Rory, Greenblatt, Marc, Pineda, Marta, Lino Silva, Leonardo S, Redler, Silke, Nakken, Sigve, Burn, John, Büttner, Reinhard, Brunet, Joan, Rossi, Benedito Mauro, Stakelum, Aine, Lalloo, Fiona, Newton, Katie, Torrezan, Giovana Tardin, Kloor, Matthias, Bertario, Lucio, Crosbie, Emma J, Neffa, Florencia, Perne, Claudia, Esperon, Patricia, Winship, Ingrid, Latchford, Andrew, Macrae, Finlay, Rosner, Guy, Levi, Zohar, Pavicic, Walter Hernán, Plazzer, John Paul, Sijmons, Rolf, Backman, Ann Sofie, De Vargas, Aída Falcón, Lautrup, Charlotte K, Abu Freha, Naim, Winter, Des, Bohorquez, Mabel, Heinimann, Karl, Alvarez Valenzuela, Karin, Van Hest, Liselotte P, Ligtenberg, Marjolijn J. L, Katz, Lior, Da Silva, Leandro Apolinário, Laish, Ido, Vainer, Elez

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