Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly
Rodriguez-Laguna, Lara, Agra, Noelia, Ibañez, Kristina, Oliva-Molina, Gloria, Gordo, Gema, Khurana, Noor, Hominick, Devon, Beato, María, Colmenero, Isabel, Herranz, Gonzalo, Torres Canizalez, Juan M, Rodríguez Pena, Rebeca, Vallespín, Elena, Martín-Arenas, Rubén, Del Pozo, Ángela, Villaverde, Cristina, Bustamante, Ana, Ayuso, Carmen, Lapunzina, Pablo, Lopez-Gutierrez, Juan C, Dellinger, Michael T, Martinez-Glez, Victor
Published in The Journal of experimental medicine (04.02.2019)
Published in The Journal of experimental medicine (04.02.2019)
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Journal Article
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females
Fernández, Luis, Casamayor Polo, Laura, Bravo García‐Morato, María, Enguita Valls, Ana Belén, Ruiz‐Bravo, Elena, Muñoz‐Cabello, Patricia, Ibáñez, Kristina, Rodríguez‐Laguna, Lara, Martín‐Arenas, Rubén, Ortega, Marta, Palomares‐Bralo, María, Pozo, Ángela, García‐Guereta, Luis, García‐Miñaúr, Sixto, Lapunzina, Pablo, Vallespín, Elena
Published in Clinical genetics (01.03.2021)
Published in Clinical genetics (01.03.2021)
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Journal Article
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH
Blanco-Kelly, Fiona, Palomares, María, Vallespín, Elena, Villaverde, Cristina, Martín-Arenas, Rubén, Vélez-Monsalve, Camilo, Lorda-Sánchez, Isabel, Nevado, Julián, Trujillo-Tiebas, María José, Lapunzina, Pablo, Ayuso, Carmen, Corton, Marta
Published in PloS one (23.02.2017)
Published in PloS one (23.02.2017)
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Journal Article
A Novel Role for the Tumor Suppressor Gene ITF2 in Tumorigenesis and Chemotherapy Response
Pernía, Olga, Sastre-Perona, Ana, Rodriguez-Antolín, Carlos, García-Guede, Alvaro, Palomares-Bralo, María, Rosas, Rocío, Sanchez-Cabrero, Darío, Cruz, Patricia, Rodriguez, Carmen, Diestro, MDolores, Martín-Arenas, Rubén, Pulido, Verónica, Santisteban, Pilar, Castro, Javier de, Vera, Olga, Ibáñez de Cáceres, Inmaculada
Published in Cancers (26.03.2020)
Published in Cancers (26.03.2020)
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Journal Article
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
Rodriguez-Laguna, Lara, Ibañez, Kristina, Gordo, Gema, Garcia-Minaur, Sixto, Santos-Simarro, Fernando, Agra, Noelia, Vallespín, Elena, Fernández-Montaño, Victoria E, Martín-Arenas, Rubén, del Pozo, Ángela, González-Pecellín, Héctor, Mena, Rocío, Rueda-Arenas, Inmaculada, Gomez, María V, Villaverde, Cristina, Bustamante, Ana, Ayuso, Carmen, Ruiz-Perez, Víctor L, Nevado, Julián, Lapunzina, Pablo, Lopez-Gutierrez, Juan C, Martinez-Glez, Victor
Published in Genetics in medicine (01.08.2018)
Published in Genetics in medicine (01.08.2018)
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Journal Article
Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor
Cabral de Almeida Cardoso, Leila, Rodriguez-Laguna, Lara, Del Carmen Crespo, María, Vallespín, Elena, Palomares-Bralo, María, Martin-Arenas, Rubén, Rueda-Arenas, Inmaculada, Silvestre de Faria, Paulo Antonio, García-Miguel, Purificación, Lapunzina, Pablo, Regla Vargas, Fernando, Seuanez, Hector N, Martínez-Glez, Víctor
Published in PloS one (28.08.2015)
Published in PloS one (28.08.2015)
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Journal Article
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
Nevado, Julián, Rosenfeld, Jill A, Mena, Rocío, Palomares-Bralo, María, Vallespín, Elena, Ángeles Mori, María, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, Del Campo, Miguel, Plaja, Alberto, Martín-Arenas, Rubén, Santos-Simarro, Fernando, Armengol, Lluis, Gowans, Gordon, Orera, María, Sanchez-Hombre, M Carmen, Corbacho-Fernández, Esther, Fernández-Jaén, Alberto, Haldeman-Englert, Chad, Saitta, Sulagna, Dubbs, Holly, Bénédicte, Duban B, Li, Xia, Devaney, Lani, Dinulos, Mary Beth, Vallee, Stephanie, Crespo, M Carmen, Fernández, Blanca, Fernández-Montaño, Victoria E, Rueda-Arenas, Inmaculada, de Torres, María Luisa, Ellison, Jay W, Raskin, Salmo, Venegas-Vega, Carlos A, Fernández-Ramírez, Fernando, Delicado, Alicia, García-Miñaúr, Sixto, Lapunzina, Pablo
Published in European journal of human genetics : EJHG (01.12.2015)
Published in European journal of human genetics : EJHG (01.12.2015)
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Journal Article
Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system
Espeche, Lucía Daniela, Solari, Andrea Paula, Mori, María Ángeles, Arenas, Rubén Martín, Palomares, María, Pérez, Myriam, Martínez, Cinthia, Lotersztein, Vanesa, Segovia, Mabel, Armando, Romina, Dain, Liliana Beatriz, Nevado, Julián, Lapunzina, Pablo, Rozental, Sandra
Published in Molecular biology reports (01.09.2020)
Published in Molecular biology reports (01.09.2020)
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Journal Article
A novel role for the tumor suppressor gene ITF2 in lung tumorigenesis and chemotherapy response
Pernia, Olga, Sastre-Perona, Ana, Rodriguez-Antolin, Carlos, Garcia-Guede, Alvaro, Palomares-Bralo, Maria, Rosas, Rocio, Sanchez-Cabrero, Dario, Rodriguez, Carmen, Martin-Arenas, Ruben, Pulido, Veronica, De Castro, Javier, Santisteban, Pilar, Vera, Olga, Inmaculada Ibanez De Caceres
Published in bioRxiv (15.01.2020)
Published in bioRxiv (15.01.2020)
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CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
Rodriguez-Laguna, Lara, Ibanez, Kristina, Gordo, Gema, Garcia-Minaur, Sixto, Santos-Simarro, Fernando, Agra, Noelia, Vallespin, Elena, Fernandez-Montano, Victoria E, Martin-Arenas, Ruben, Angela Del Pozo, Gonzalez-Pecellin, Hector, Mena, Rocio, Rueda-Arenas, Inmaculada, Gomez, Maria V, Villaverde, Cristina, Bustamante, Ana, Ayuso, Carmen, Ruiz-Perez, Victor L, Nevado, Julian, Lapunzina, Pablo, Lopez-Gutierrez, Juan C, Martinez-Glez, Victor
Published in bioRxiv (26.06.2017)
Published in bioRxiv (26.06.2017)
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