Search Results - "Ionescu, Raluca Oancea"

Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts by Damián, Alejandra, Ionescu, Raluca Oancea, Rodríguez de Alba, Marta, Tamayo, Alejandra, Trujillo-Tiebas, María José, Cotarelo-Pérez, María Carmen, Pérez Rodríguez, Olga, Villaverde, Cristina, de la Fuente, Lorena, Romero, Raquel, Núñez-Moreno, Gonzalo, Mínguez, Pablo, Ayuso, Carmen, Cortón, Marta

“…Inversions are structural variants that are generally balanced. However, they could lead to gene disruptions or have positional effects leading to diseases…”
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Telangiectasias on the lips and hands of a teenage girl by Campos‐Muñoz, Lucía, Oancea Ionescu, Raluca, Iglesias‐Puzas, Alvaro, Conde‐Taboada, Alberto, López‐Bran, Eduardo

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A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening by Cotarelo-Pérez, Carmen, Oancea-Ionescu, Raluca, Asenjo-de-la-Fuente, Eloy, Ortega-de-Heredia, Dolores, Soler-Ruiz, Patricia, Coronado-Martín, Pluvio, Fenollar-Cortés, María

“…To assess the results of the first trimester combined test to design a prenatal protocol for the introduction of the cell-free fetal DNA test as a contingent…”
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MECP2 Duplications in Symptomatic Females by San Antonio-Arce Victoria, Fenollar-Cortés María, Oancea Ionescu Raluca, DeSantos-Moreno, Teresa, Gallego-Merlo Jesús, Illana Cámara Francisco José, Cotarelo Pérez María Carmen

“…Xq28 microduplications including the MECP2 gene constitute a 100% penetrant X-linked syndrome in males caused by overexpression of normal MeCP2 protein. A…”
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by 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

“…Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at…”
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Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families by Soengas-Gonda, Emma, Pérez de la Fuente, Rubén, Arteche-López, Ana, Gómez-Cano, María de Los Ángeles, Quesada-Espinosa, Juan Francisco, Palma Milla, Carmen, Lezana Rosales, José Miguel, Mayo de Andrés, Sonia, Sánchez-Calvín, María Teresa, Gómez-Rodríguez, María José, Sierra Tomillo, Olalla, Juarez Rufian, Alexandra, Ramos Gomez, Patricia, Herrero-Forte, Clara, Fenollar-Cortés, Maria, Cotarelo-Pérez, Carmen, García Ron, Adrián, Pérez Rodríguez, Olga, Oancea-Ionescu, Raluca, Moreno-García, Marta

“…Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the gene. Clinically, it is mainly…”
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by 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

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call by Bellusci, Marcello, Paredes-Fuentes, Abraham J, Ruiz-Pesini, Eduardo, Gómez, Beatriz, Martín, Miguel A, Montoya, Julio, Artuch, Rafael

“…The frequency of mitochondrial diseases (MD) has been scarcely documented, and only a few studies have reported data in certain specific geographical areas. In…”
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MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum by San Antonio-Arce, Victoria, Fenollar-Cortés, María, Oancea Ionescu, Raluca, DeSantos-Moreno, Teresa, Gallego-Merlo, Jesús, Illana Cámara, Francisco José, Cotarelo Pérez, María Carmen

“…Xq28 microduplications including the MECP2 gene constitute a 100% penetrant X-linked syndrome in males caused by overexpression of normal MeCP2 protein. A…”
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