Search Results - "Pozo, Angela del"

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype by 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

“…Purpose CLAPO syndrome is a rare vascular disorder characterized by capillary malformation of the lower lip, lymphatic malformation predominant on the face and…”
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Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families by Fernández-Alcalde, Celia, Nieves-Moreno, María, Noval, Susana, Peralta, Jesús M, Montaño, Victoria E F, Del Pozo, Ángela, Santos-Simarro, Fernando, Vallespín, Elena

“…Our purpose was to identify mutations responsible for non-syndromic congenital cataracts through the implementation of next-generation sequencing (NGS) in our…”
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Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts by 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

“…Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other…”
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Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia by Sánchez-Cazorla, Eloísa, González-Atienza, Carmen, López-Vázquez, Ana, Arruti, Natalia, Nieves-Moreno, María, Noval, Susana, Mena, Rocío, Rodríguez-Jiménez, Carmen, Rodríguez-Solana, Patricia, González-Iglesias, Eva, Guerrero-Carretero, Marta, D’Anna Mardero, Oriana, Coca-Robinot, Javier, Acal, Juan Carlos, Blasco, Joana, Castañeda, Carlos, Fraile Maya, Jesús, Del Pozo, Ángela, Gómez-Pozo, María V, Montaño, Victoria E. F, Dios-Blázquez, Lucía De, Rodríguez-Antolín, Carlos, Gómez-Cano, María de Los Ángeles, Delgado-Mora, Luna, Vallespín, Elena

“…High myopia is the most severe and pathological form of myopia. It occurs when the spherical refractive error exceeds –6.00 spherical diopters (SDs) or the…”
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Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus by Nieves-Moreno, Maria, Noval, Susana, Peralta, Jesus, Palomares-Bralo, María, del Pozo, Angela, Garcia-Miñaur, Sixto, Santos-Simarro, Fernando, Vallespin, Elena

“…Background: Congenital aniridia is a complex ocular disorder, usually associated with severe visual impairment, generally caused by mutations on the PAX6 gene…”
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Broadening the phenotypic spectrum of EVEN‐PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype by Pacio‐Miguez, Marta, Parrón‐Pajares, Manuel, Gordon, Christopher T., Santos‐Simarro, Fernando, Rodríguez Jiménez, Carmen, Mena, Rocio, Rueda Arenas, Inmaculada, F. Montaño, Victoria Eugenia, Fernández, María, Solís, Mario, Pozo, Ángela, Amiel, Jeanne, García‐Miñaur, Sixto, Palomares‐Bralo, María

“…EVEN‐PLUS syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the mitochondrial chaperone called mortalin, encoded by…”
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Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature by Siccha, Sofía M., Cueto, Anna María, Parrón‐Pajares, Manuel, González‐Morán, Gaspar, Pacio‐Miguez, Marta, Del Pozo, Ángela, Solís, Mario, Rodriguez‐Jimenez, Carmen, Caino, Silvia, Fano, Virginia, Heath, Karen E., García‐Miñaúr, Sixto, Palomares‐Bralo, María, Santos‐Simarro, Fernando

“…Stuve–Wiedemann syndrome (SWS; MIM 601559) is a rare autosomal recessive disease caused by mutations in the leukemia inhibitor factor receptor gene (LIFR)…”
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OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population by 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

“…A clinical and genetic study was conducted with pediatric patients and their relatives with optic atrophy 1 ( mutations to establish whether there is a…”
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Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability by Pacio Miguez, Marta, Santos‐Simarro, Fernando, García‐Miñaúr, Sixto, Velázquez Fragua, Ramón, Pozo, Ángela, Solís, Mario, Jiménez Rodríguez, Carmen, Rufo‐Rabadán, Virginia, Fernandez, Victoria Eugenia, Rueda, Inmaculada, Gomez del Pozo, Maria Victoria, Gallego, Natividad, Lapunzina, Pablo, Palomares‐Bralo, María

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Molecular and histologic insights on early onset cardiomyopathy in Danon disease females by 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

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Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism—MAGEL2 as an example by Palomares-Bralo, María, Vallespín, Elena, del Pozo, Ángela, Ibañez, Kristina, Silla, Juan Carlos, Galán, Enrique, Gordo, Gema, Martínez-Glez, Víctor, Alba-Valdivia, Lázaro I, Heath, Karen E, García-Miñaúr, Sixto, Lapunzina, Pablo, Santos-Simarro, Fernando

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Loss of function BMP4 mutation supports the implication of the BMP/TGF‐β pathway in the etiology of combined pituitary hormone deficiency by Rodríguez‐Contreras, Francisco J., Marbán‐Calzón, Mercedes, Vallespín, Elena, del Pozo, Ángela, Solís‐López, Mario, Lobato‐Vidal, Nerea, Fernández‐Elvira, María, del Valle Rex‐Romero, María, Heath, Karen E., González‐Casado, Isabel, Campos‐Barros, Ángel

“…Despite BMP4 signaling being critical to Rathke's pouch induction and maintenance during early stages of pituitary development, its implication in the etiology…”
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Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations by Barraza-García, Jimena, Iván Rivera-Pedroza, Carlos, Salamanca, Luis, Belinchón, Alberta, López-González, Vanesa, Sentchordi-Montané, Lucía, del Pozo, Ángela, Santos-Simarro, Fernando, Campos-Barros, Ángel, Lapunzina, Pablo, Guillén-Navarro, Encarna, González-Casado, Isabel, García-Miñaur, Sixto, Heath, Karen E.

“…Primordial dwarfism encompasses rare conditions characterized by severe intrauterine growth retardation and growth deficiency throughout life. Recently, three…”
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Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X by 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

“…Abstract Transducin β-like 1 X-linked (TBL1X) gene encodes a subunit of the nuclear corepressor-silencing mediator for retinoid and thyroid hormone receptor…”
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A new variant in PHKA2 is associated with glycogen storage disease type IXa by 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

“…Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage…”
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Chimeras taking shape: potential functions of proteins encoded by chimeric RNA transcripts by Frenkel-Morgenstern, Milana, Lacroix, Vincent, Ezkurdia, Iakes, Levin, Yishai, Gabashvili, Alexandra, Prilusky, Jaime, Del Pozo, Angela, Tress, Michael, Johnson, Rory, Guigo, Roderic, Valencia, Alfonso

“…Chimeric RNAs comprise exons from two or more different genes and have the potential to encode novel proteins that alter cellular phenotypes. To date, numerous…”
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Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly by 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

“…Generalized lymphatic anomaly (GLA) is a vascular disorder characterized by diffuse or multifocal lymphatic malformations (LMs). The etiology of GLA is poorly…”
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A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ by Villafuerte, Beatriz, Carrasco-López, Carlos, Herranz, Amanda, Garzón, Lucía, Simón, Rogelio, Natera-de-Benito, Daniel, Alikhani, Pouya, Tenorio, Jair, García-Santiago, Fe, Solis, Mario, Del-Pozo, Ángela, Lapunzina, Pablo, Ortigoza-Escobar, Juan Darío, Santisteban, Pilar, Moreno, José C

“…Brain-lung-thyroid syndrome (BLTS) is caused by haploinsufficiency, resulting in chorea/choreoathetosis, respiratory problems, and hypothyroidism. Genes…”
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Alternatively Spliced Homologous Exons Have Ancient Origins and Are Highly Expressed at the Protein Level by Abascal, Federico, Ezkurdia, Iakes, Rodriguez-Rivas, Juan, Rodriguez, Jose Manuel, del Pozo, Angela, Vázquez, Jesús, Valencia, Alfonso, Tress, Michael L

“…Alternative splicing of messenger RNA can generate a wide variety of mature RNA transcripts, and these transcripts may produce protein isoforms with diverse…”
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FGF9 mutation causes craniosynostosis along with multiple synostoses by Rodriguez‐Zabala, Maria, Aza‐Carmona, Miriam, Rivera‐Pedroza, Carlos I., Belinchón, Alberta, Guerrero‐Zapata, Isabel, Barraza‐García, Jimena, Vallespin, Elena, Lu, Min, del Pozo, Angela, Glucksman, Marc J., Santos‐Simarro, Fernando, Heath, Karen E.

“…Craniosynostosis is commonly caused by mutations in fibroblast growth factor receptors (FGFRs), highlighting the essential role of FGF‐mediated signaling in…”
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