Expanding the phenotype of the X-linked BCOR microphthalmia syndromes von Ragge, Nicola, Isidor, Bertrand, Bitoun, Pierre, Odent, Sylvie, Giurgea, Irina, Cogné, Benjamin, Deb, Wallid, Vincent, Marie, Le Gall, Jessica, Morton, Jenny, Lim, Derek, Le Meur, Guylène, Zazo Seco, Celia, Zafeiropoulou, Dimitra, Bax, Dorine, Zwijnenburg, Petra, Arteche, Anara, Swafiri, Saoud Tahsin, Cleaver, Ruth, McEntagart, Meriel, Kini, Usha, Newman, William, Ayuso, Carmen, Corton, Marta, Herenger, Yvan, Jeanne, Médéric, Calvas, Patrick, Chassaing, Nicolas

Volltext

Genetic background of congenital aniridia von Damian, Alejandra, Blanco‐Kelly, Fiona, Tamayo, Alejandra, Swafiri, Saoud T., Villaverde, Cristina, Ruiz‐Sánchez, Carolina, Tory, Kálmán, Szentmáry, Nóra, Ayuso, Carmen, Corton, Marta

Volltext

RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients von Lopez-Rodriguez, Rosario, Lantero, Esther, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Martin Merida, Inmaculada, del Pozo-Valero, Marta, Perea-Romero, Irene, Zurita, Olga, Jiménez-Rolando, Belén, Swafiri, Saoud Tahsin, Riveiro-Alvarez, Rosa, Trujillo-Tiebas, María José, Carreño Salas, Ester, García-Sandoval, Blanca, Corton, Marta, Ayuso, Carmen

Volltext

PRPH2 -Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort von Fernández-Caballero, Lidia, Martín-Merida, Inmaculada, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Carreño, Ester, Fernandez-San Jose, Patricia, Irigoyen, Cristina, Jimenez-Rolando, Belen, Lopez-Grondona, Fermina, Mahillo, Ignacio, Martin-Gutierrez, María Pilar, Minguez, Pablo, Perea-Romero, Irene, Del Pozo-Valero, Marta, Riveiro-Alvarez, Rosa, Rodilla, Cristina, Rodriguez-Peña, Lidya, Sánchez-Barbero, Ana Isabel, Swafiri, Saoud T, Trujillo-Tiebas, María José, Zurita, Olga, García-Sandoval, Blanca, Corton, Marta, Ayuso, Carmen

Volltext

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders von Martinez-Granero, Francisco, Blanco-Kelly, Fiona, Sanchez-Jimeno, Carolina, Avila-Fernandez, Almudena, Arteche, Ana, Bustamante-Aragones, Ana, Rodilla, Cristina, Rodríguez-Pinilla, Elvira, Riveiro-Alvarez, Rosa, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria Jose, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta

Volltext

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia von Tarilonte, María, Morín, Matías, Ramos, Patricia, Galdós, Marta, Blanco-Kelly, Fiona, Villaverde, Cristina, Rey-Zamora, Dolores, Rebolleda, Gema, Muñoz-Negrete, Francisco J, Tahsin-Swafiri, Saoud, Gener, Blanca, Moreno-Pelayo, Miguel-Angel, Ayuso, Carmen, Villamar, Manuela, Corton, Marta

Volltext

Genomic Landscape of Sporadic Retinitis Pigmentosa von Martin-Merida, Inmaculada, Avila-Fernandez, Almudena, Del Pozo-Valero, Marta, Blanco-Kelly, Fiona, Zurita, Olga, Perez-Carro, Raquel, Aguilera-Garcia, Domingo, Riveiro-Alvarez, Rosa, Arteche, Ana, Trujillo-Tiebas, Maria Jose, Tahsin-Swafiri, Saoud, Rodriguez-Pinilla, Elvira, Lorda-Sanchez, Isabel, Garcia-Sandoval, Blanca, Corton, Marta, Ayuso, Carmen

Volltext

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome von Perea-Romero, Irene, Solarat, Carlos, Blanco-Kelly, Fiona, Sanchez-Navarro, Iker, Bea-Mascato, Brais, Martin-Salazar, Eduardo, Lorda-Sanchez, Isabel, Swafiri, Saoud Tahsin, Avila-Fernandez, Almudena, Martin-Merida, Inmaculada, Trujillo-Tiebas, Maria Jose, Carreño, Ester, Jimenez-Rolando, Belen, Garcia-Sandoval, Blanca, Minguez, Pablo, Corton, Marta, Valverde, Diana, Ayuso, Carmen

Volltext

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review von Pascual, Patricia, Tenorio-Castano, Jair, Mignot, Cyril, Afenjar, Alexandra, Arias, Pedro, Gallego-Zazo, Natalia, Parra, Alejandro, Miranda, Lucia, Cazalla, Mario, Silván, Cristina, Heron, Delphine, Keren, Boris, Popa, Ioana, Palomares, María, Rikeros, Emi, Ramos, Feliciano J., Almoguera, Berta, Ayuso, Carmen, Swafiri, Saoud Tahsin, Barbero, Ana Isabel Sánchez, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Morleo, Manuela, Nigro, Vicenzo, D’Arrigo, Stefano, Ciaccio, Claudia, Martin Mesa, Carmen, Paumard, Beatriz, Guillen, Gema, Anton, Ana Teresa Serrano, Jimenez, Marta Domínguez, Seidel, Veronica, Suárez, Julia, Cormier-Daire, Valerie, Consortium, The SOGRI, Nevado, Julián, Lapunzina, Pablo

Volltext

A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs von Mascaro, Martina, D’Ambrosio, Luigi, Lazzari, Elisa, Almoguera, Berta, Swafiri, Saoud Tahsin, Zanchetta, Melania Eva, Meroni, Germana

Volltext

A renal hyperechogenicity study: From the phenotype to the genotype in the mutation of hepatocyte nuclear factor-1 beta gene von Hernández, Pilar Ribes, Molina, Adoración Granados, Pérez, Alicia García, Swafiri, Saoud Tahsin, Carbajo, Esther Pérez

Volltext

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases von Martin-Merida, Inmaculada, Avila-Fernandez, Almudena, Del Pozo-Valero, Marta, Blanco-Kelly, Fiona, Zurita, Olga, Perez-Carro, Raquel, Aguilera-Garcia, Domingo, Riveiro-Alvarez, Rosa, Arteche, Ana, Trujillo-Tiebas, Maria Jose, Tahsin-Swafiri, Saoud, Rodriguez-Pinilla, Elvira, Lorda-Sanchez, Isabel, Garcia-Sandoval, Blanca, Corton, Marta, Ayuso, Carmen

Volltext

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications von Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

Volltext

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies von Del Pozo-Valero, Marta, Riveiro-Alvarez, Rosa, Martin-Merida, Inmaculada, Blanco-Kelly, Fiona, Swafiri, Saoud, Lorda-Sanchez, Isabel, Trujillo-Tiebas, Maria José, Carreño, Ester, Jimenez-Rolando, Belen, Garcia-Sandoval, Blanca, Corton, Marta, Avila-Fernandez, Almudena, Ayuso, Carmen

Volltext

Genotype–Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants von Del Pozo-Valero, Marta, Riveiro-Alvarez, Rosa, Blanco-Kelly, Fiona, Aguirre-Lamban, Jana, Martin-Merida, Inmaculada, Iancu, Ionut-Florin, Swafiri, Saoud, Lorda-Sanchez, Isabel, Rodriguez-Pinilla, Elvira, Trujillo-Tiebas, Maria José, Jimenez-Rolando, Belen, Carreño, Ester, Mahillo-Fernandez, Ignacio, Rivolta, Carlo, Corton, Marta, Avila-Fernandez, Almudena, Garcia-Sandoval, Blanca, Ayuso, Carmen

Volltext

Estudio de hiperecogenicidad renal: del fenotipo al genotipo en la mutación del gen del factor nuclear hepático1β von Ribes Hernández, Pilar, Granados Molina, Adoración, García Pérez, Alicia, Tahsin Swafiri, Saoud, Pérez Carbajo, Esther

Volltext

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies von Rodilla, Cristina, Martín-Merida, Inmaculada, Blanco-Kelly, Fiona, Trujillo-Tiebas, María José, Avila-Fernandez, Almudena, Riveiro-Alvarez, Rosa, del Pozo-Valero, Marta, Perea-Romero, Irene, Swafiri, Saoud Tahsin, Zurita, Olga, Villaverde, Cristina, López, Miguel Ángel, Romero, Raquel, Iancu, Ionut Florin, Núñez-Moreno, Gonzalo, Jiménez-Rolando, Belén, Martin-Gutierrez, María Pilar, Carreño, Ester, Minguez, Pablo, García-Sandoval, Blanca, Ayuso, Carmen, Corton, Marta

Volltext

IPRPH2/I-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort von Fernández-Caballero, Lidia, Martín-Merida, Inmaculada, Blanco-Kelly, Fiona, Avila-Fernandez, Almudena, Carreño, Ester, Fernandez-San Jose, Patricia, Irigoyen, Cristina, Jimenez-Rolando, Belen, Lopez-Grondona, Fermina, Mahillo, Ignacio, Ma, Minguez, Pablo, Perea-Romero, Irene, Del Pozo-Valero, Marta, Riveiro-Alvarez, Rosa, Rodilla, Cristina, Rodriguez-Peña, Lidya, Sánchez-Barbero, Ana Isabel, Swafiri, Saoud T, Trujillo-Tiebas, María José, Zurita, Olga, García-Sandoval, Blanca, Corton, Marta, Ayuso, Carmen

Volltext

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant von Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C, Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M, Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, Van Esch, Hilde

Volltext

Genotype–Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA 4 Pathogenic Variants von Marta Del Pozo-Valero, Riveiro-Alvarez, Rosa, Blanco-Kelly, Fiona, Aguirre-Lamban, Jana, Martin-Merida, Inmaculada, Ionut-Florin Iancu, Saoud Swafiri, Lorda-Sanchez, Isabel, Rodriguez-Pinilla, Elvira, Trujillo-Tiebas, Maria José, Jimenez-Rolando, Belen, Carreño, Ester, Mahillo-Fernandez, Ignacio, Rivolta, Carlo, Corton, Marta, Avila-Fernandez, Almudena, Garcia-Sandoval, Blanca, Ayuso, Carmen

Volltext