Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

por Nieves-Moreno, Maria, Noval, Susana, Peralta, Jesus, Palomares-Bralo, María, del Pozo, Angela, Garcia-Miñaur, Sixto, Santos-Simarro, Fernando, Vallespin, Elena
Publicado 2021

Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation

por Fernández-Gutiérrez, Eva, Fernández-Pérez, Pedro, Boto-De-Los-Bueis, Ana, García-Fernández, Laura, Rodríguez-Solana, Patricia, Solís, Mario, Vallespín, Elena
Publicado 2022

Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing

por Gómez-González, Clara, Esteban-Rodríguez, Maria Isabel, Ruano, Yolanda, Vallespín, Elena, Lapunzina, Pablo, Martínez, Paloma, Pascual, Samuel I., Molano, Jesús, Prior, Carmen
Publicado 2017

Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families

por Fernández-Alcalde, Celia, Nieves-Moreno, María, Noval, Susana, Peralta, Jesús M., Montaño, Victoria E. F., del Pozo, Ángela, Santos-Simarro, Fernando, Vallespín, Elena
Publicado 2021

A new variant in PHKA2 is associated with glycogen storage disease type IXa

por Rodríguez-Jiménez, Carmen, Santos-Simarro, Fernando, Campos-Barros, Ángel, Camarena, Carmen, Lledín, Dolores, Vallespín, Elena, del Pozo, Ángela, Mena, Rocío, Lapunzina, Pablo, Rodríguez-Nóvoa, Sonia
Publicado 2017

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa

por Riveiro-Alvarez, Rosa, Vallespin, Elena, Wilke, Robert, Garcia-Sandoval, Blanca, Cantalapiedra, Diego, Aguirre-Lamban, Jana, Avila-Fernandez, Almudena, Gimenez, Ascension, Trujillo-Tiebas, Maria-Jose, Ayuso, Carmen
Publicado 2008

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X

por García, Marta, Barreda-Bonis, Ana C, Jiménez, Paula, Rabanal, Ignacio, Ortiz, Arancha, Vallespín, Elena, del Pozo, Ángela, Martínez-San Millán, Juan, González-Casado, Isabel, Moreno, José C
Publicado 2018

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

por Bustamante-Aragones, Ana, Vallespin, Elena, Rodriguez de Alba, Marta, Trujillo-Tiebas, Maria Jose, Gonzalez-Gonzalez, Cristina, Diego-Alvarez, Dan, Riveiro-Alvarez, Rosa, Lorda-Sanchez, Isabel, Ayuso, Carmen, Ramos, Carmen
Publicado 2008

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population

por Corton, Marta, Tatu, Sorina D, Avila-Fernandez, Almudena, Vallespín, Elena, Tapias, Ignacio, Cantalapiedra, Diego, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Bernal, Sara, García-Sandoval, Blanca, Baiget, Montserrat, Ayuso, Carmen
Publicado 2013

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

por Delicado, Alicia, Fernández, Luis, de Torres, María Luisa, Nevado, Julián, García-Santiago, Fe Amalia, Rodríguez, Roberto, Mansilla, Elena, Palomares, María, Santos-Simarro, Fernando, Vallespín, Elena, Mori, María Ángeles, Lapunzina, Pablo
Publicado 2014

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

por 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
Publicado 2017

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

por Arruti, Natalia, Rodríguez-Solana, Patricia, Nieves-Moreno, María, Guerrero-Carretero, Marta, del Pozo, Ángela, Montaño, Victoria E. F., Santos-Simarro, Fernando, Rikeros-Orozco, Emi, Delgado-Mora, Luna, Vallespín, Elena, Noval, Susana
Publicado 2023

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

por Ávila-Fernández, Almudena, Cantalapiedra, Diego, Aller, Elena, Vallespín, Elena, Aguirre-Lambán, Jana, Blanco-Kelly, Fiona, Corton, M., Riveiro-Álvarez, Rosa, Allikmets, Rando, Trujillo-Tiebas, María José, Millán, José M., Cremers, Frans P.M., Ayuso, Carmen
Publicado 2010

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study

por González-Iglesias, Eva, López-Vázquez, Ana, Noval, Susana, Nieves-Moreno, María, Granados-Fernández, María, Arruti, Natalia, Rosa-Pérez, Irene, Pacio-Míguez, Marta, Montaño, Victoria E. F., Rodríguez-Solana, Patricia, del Pozo, Angela, Santos-Simarro, Fernando, Vallespín, Elena
Publicado 2022

New microdeletion and microduplication syndromes: A comprehensive review

por Nevado, Julián, Mergener, Rafaella, Palomares-Bralo, María, Souza, Karen Regina, Vallespín, Elena, Mena, Rocío, Martínez-Glez, Víctor, Mori, María Ángeles, Santos, Fernando, García-Miñaur, Sixto, García-Santiago, Fé, Mansilla, Elena, Fernández, Luis, de Torres, María Luisa, Riegel, Mariluce, Lapunzina, Pablo
Publicado 2014

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

por 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
Publicado 2015

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

por 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
Publicado 2019

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes

por Gálvez, Eva, Vallespín, Elena, Arias-Salgado, Elena G., Sánchez-Valdepeñas, Carmen, Giménez, Yari, Navarro, Susana, Río, Paula, Bogliolo, Massimo, Pujol, Roser, Peiró, Montserrat, Nevado, Julián, Zubicaray, Josune, Sebastián, Elena, Catalá, Albert, Beléndez, Cristina, Díaz de Heredia, Cristina, Galera, Ana, Badell, Isabel, Madero, Luis, Perona, Rosario, Sastre, Leandro, Surrallés, Jordi, Bueren, Juan, Lapunzina, Pablo, Sevilla, Julián
Publicado 2021

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts

por Rodríguez-Solana, Patricia, Arruti, Natalia, Nieves-Moreno, María, Mena, Rocío, Rodríguez-Jiménez, Carmen, Guerrero-Carretero, Marta, Acal, Juan Carlos, Blasco, Joana, Peralta, Jesús M., Del Pozo, Ángela, Montaño, Victoria E. F., Dios-Blázquez, Lucía De, Fernández-Alcalde, Celia, González-Atienza, Carmen, Sánchez-Cazorla, Eloísa, Gómez-Cano, María de Los Ángeles, Delgado-Mora, Luna, Noval, Susana, Vallespín, Elena
Publicado 2023

The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways

por García, Marta, Barrio, Raquel, García-Lavandeira, Montserrat, Garcia-Rendueles, Angela R., Escudero, Adela, Díaz-Rodríguez, Esther, Gorbenko Del Blanco, Darya, Fernández, Ana, de Rijke, Yolanda B., Vallespín, Elena, Nevado, Julián, Lapunzina, Pablo, Matre, Vilborg, Hinkle, Patricia M., Hokken-Koelega, Anita C. S., de Miguel, María P., Cameselle-Teijeiro, José Manuel, Nistal, Manuel, Alvarez, Clara V., Moreno, José C.
Publicado 2017