Showing 1 - 19 results of 19 for search 'Carmen Ayuso', query time: 0.04s
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Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in <i>PAX6</i> in Congenital Aniridia by Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damian, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Minguez, Marta Corton
Published 2023-01-01
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Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks by Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Cortón, Carmen Ayuso, Pablo Mínguez
Published 2023-01-01
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Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells by Ana Artero-Castro, Kathleen Long, Andrew Bassett, Almudena Ávila-Fernandez, Marta Cortón, Antonio Vidal-Puig, Pavla Jendelova, Francisco Javier Rodriguez-Jimenez, Eleonora Clemente, Carmen Ayuso, Slaven Erceg
Published 2021-02-01
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Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases by Alejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, Alejandra Tamayo, Marta Rodríguez de Alba, Cristina Villaverde, Cédric Fund, Marc Delépine, Aurélie Leduc, Jean François Deleuze, Pablo Mínguez, Carmen Ayuso, Marta Corton
Published 2023-06-01
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MRI USING GADOXETIC ACID IN THE WORK-UP OF LIVER NODULES NOT CONCLUSIVELY BENIGN IN BUDD-CHIARI SYNDROME. A PROSPECTIVE LONG-TERM FOLLOW-UP by Angeles Garcia-Criado, Jordi Rimola, Susana Seijo, Anna Darnell, Ernest Belmonte, Victor Sapena, Julián Moreno-Rojas, Valeria Pérez, Virginia Hernández-Gea, Carmen Ayuso, Maria Reig, Juan Carlos Garcia-Pagan, Jordi Bruix
Published 2023-08-01
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ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease by María Rodríguez-Hidalgo, María Rodríguez-Hidalgo, Suzanne E. de Bruijn, Zelia Corradi, Kim Rodenburg, Araceli Lara-López, Alicia Valverde-Megías, Almudena Ávila-Fernández, Almudena Ávila-Fernández, Lidia Fernandez-Caballero, Lidia Fernandez-Caballero, Marta Del Pozo-Valero, Marta Del Pozo-Valero, Jordi Corominas, Jordi Corominas, Christian Gilissen, Christian Gilissen, Cristina Irigoyen, Cristina Irigoyen, Frans P. M. Cremers, Carmen Ayuso, Carmen Ayuso, Javier Ruiz-Ederra, Javier Ruiz-Ederra, Susanne Roosing
Published 2023-09-01
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A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia by Nejla Erkilic, Vincent Gatinois, Simona Torriano, Pauline Bouret, Carla Sanjurjo-Soriano, Valerie De Luca, Krishna Damodar, Nicolas Cereso, Jacques Puechberty, Rocio Sanchez-Alcudia, Christian P. Hamel, Carmen Ayuso, Isabelle Meunier, Franck Pellestor, Vasiliki Kalatzis
Published 2019-09-01
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Risk of Treatment Failure and Death after Ablation in Hepatocellular Carcinoma Patients—A Multiparametric Prediction by Sergio Muñoz-Martínez, Victor Sapena, Ángeles García-Criado, Anna Darnell, Alejandro Forner, Ernest Belmonte, Marco Sanduzzi-Zamparelli, Jordi Rimola, Alexandre Soler, Neus Llarch, Gemma Iserte, Ezequiel Mauro, Carmen Ayuso, Jose Rios, Jordi Bruix, Ramon Vilana, María Reig
Published 2023-06-01
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Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations... by Carolina Sanchez-Jimeno, Fiona Blanco-Kelly, Fermina López-Grondona, Rebeca Losada-Del Pozo, Beatriz Moreno, María Rodrigo-Moreno, Elena Martinez-Cayuelas, Rosa Riveiro-Alvarez, María Fenollar-Cortés, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
Published 2021-08-01
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Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the <i>NHS</i> Gene in a Patient with Syndromic Cataracts by Alejandra Damián, Raluca Oancea Ionescu, Marta Rodríguez de Alba, Alejandra Tamayo, María José Trujillo-Tiebas, María Carmen Cotarelo-Pérez, Olga Pérez Rodríguez, Cristina Villaverde, Lorena de la Fuente, Raquel Romero, Gonzalo Núñez-Moreno, Pablo Mínguez, Carmen Ayuso, Marta Cortón
Published 2021-11-01
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Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies by Ionut-Florin Iancu, Irene Perea-Romero, Gonzalo Núñez-Moreno, Lorena de la Fuente, Raquel Romero, Almudena Ávila-Fernandez, María José Trujillo-Tiebas, Rosa Riveiro-Álvarez, Berta Almoguera, Inmaculada Martín-Mérida, Marta Del Pozo-Valero, Alejandra Damián-Verde, Marta Cortón, Carmen Ayuso, Pablo Minguez
Published 2022-07-01
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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa by Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis
Published 2023-11-01
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<i>PRPH2</i>-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort by Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo, María Pilar Martin-Gutierrez, Pablo Minguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud T. Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
Published 2024-03-01
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Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease by Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters
Published 2024-01-01
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SARS-CoV-2 Mutant Spectra at Different Depth Levels Reveal an Overwhelming Abundance of Low Frequency Mutations by Brenda Martínez-González, María Eugenia Soria, Lucía Vázquez-Sirvent, Cristina Ferrer-Orta, Rebeca Lobo-Vega, Pablo Mínguez, Lorena de la Fuente, Carlos Llorens, Beatriz Soriano, Ricardo Ramos-Ruíz, Marta Cortón, Rosario López-Rodríguez, Carlos García-Crespo, Pilar Somovilla, Antoni Durán-Pastor, Isabel Gallego, Ana Isabel de Ávila, Soledad Delgado, Federico Morán, Cecilio López-Galíndez, Jordi Gómez, Luis Enjuanes, Llanos Salar-Vidal, Mario Esteban-Muñoz, Jaime Esteban, Ricardo Fernández-Roblas, Ignacio Gadea, Carmen Ayuso, Javier Ruíz-Hornillos, Nuria Verdaguer, Esteban Domingo, Celia Perales
Published 2022-06-01
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Schuurs–Hoeijmakers Syndrome (<em>PACS1</em> Neurodevelopmental Disorder): Seven Novel Patients and a Review by Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Irene Valenzuela, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J. Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J. Kaiser, Luis A. Pérez-Jurado, Ángel Carracedo, The ENoD-CIBERER Consortium, The SIDE Consortium, Pablo Lapunzina
Published 2021-05-01
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Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review by Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, María Palomares, Emi Rikeros, Feliciano J. Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D’Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The SOGRI Consortium, Julián Nevado, Pablo Lapunzina
Published 2023-08-01
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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes by Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Published 2024-03-01
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