Search Results - "Mena, Roció"

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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A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1 by Peces, Ramón, Peces, Carlos, Espinosa, Laura, Mena, Rocío, Blanco, Carolina, Tenorio-Castaño, Jair, Lapunzina, Pablo, Nevado, Julián

“…(1) Background: Gordon syndrome (GS) or familial hyperkalemic hypertension is caused by pathogenic variants in the genes WNK1, WNK4, KLHL3, and CUL3. Patients…”
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New microdeletion and microduplication syndromes: A comprehensive review by 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

“…Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated…”
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Inherited human ezrin deficiency impairs adaptive immunity by García-Solís, Blanca, Van Den Rym, Ana, Martinez-Martínez, Laura, Franco, Teresa, Pérez-Caraballo, Jareb J., Markle, Janet, Cubillos-Zapata, Carolina, Marín, Ana V., Recio, María J., Regueiro, José R., Navarro-Zapata, Alfonso, Mestre-Durán, Carmen, Ferreras, Cristina, Martín Cotázar, Carla, Mena, Roció, de la Calle-Fabregat, Carlos, López-Lera, Alberto, Fernández Arquero, Miguel, Pérez-Martínez, Antonio, López-Collazo, Eduardo, Sánchez-Ramón, Silvia, Casanova, Jean-Laurent, Martínez-Barricarte, Rubén, de la Calle-Martín, Oscar, Pérez de Diego, Rebeca

“…Inborn errors of immunity (IEI) are a group of monogenic diseases that confer susceptibility to infection, autoimmunity, and cancer. Despite the…”
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Birth of two healthy girls following preimplantation genetic diagnosis and gestational surrogacy in a rapidly progressive autosomal dominant polycystic kidney disease case using tolvaptan by Peces, Ramon, Mena, Rocio, Peces, Carlos, Cuesta, Emilio, Lapunzina, Pablo, Selgas, Rafael, Nevado, Julian

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A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation by López-Lera, Alberto, MS, Favier, Bertrand, PhD, de la Cruz, Rocío Mena, MS, Garrido, Sofía, BS, Drouet, Christian, PhD, López-Trascasa, Margarita, PhD

“…C1-Inh is a serum glycoprotein belonging to the serpin superfamily of protease inhibitors, the main function of which is to prevent the activation of the…”
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Prevalence of hepatocarcinoma-related hepatitis B virus mutants in patients in grey zone of treatment by Gil-García, Ana Isabel, Madejón, Antonio, Francisco-Recuero, Irene, López-López, Ana, Villafranca, Emiliana, Romero, Miriam, García, Araceli, Olveira, Antonio, Mena, Rocío, Larrubia, Juan Ramón, García-Samaniego, Javier

“…Antiviral treatment of patients with chronic hepatitis B (CHB) in the grey zone of treatment comands risk management in order to optimize the health outcome…”
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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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Detecting sociosemantic communities by applying social network analysis in tweets by Abascal-Mena, Rocío, Lema, Rose, Sèdes, Florence

“…Virtual social networks have led to a new way of communication that is different from the oral one, where the restriction of time and space generates new…”
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Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain by Peces, Ramón, Mena, Rocío, Peces, Carlos, Barruz, Pilar, Trujillo, Hernando, Carreño, Agustín, Espinosa, Laura, Selgas, Rafael, Lapunzina, Pablo, Nevado, Julián

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Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes by Peces, Ramón, Peces, Carlos, Mena, Rocío, Cuesta, Emilio, García-Santiago, Fe Amalia, Ossorio, Marta, Afonso, Sara, Lapunzina, Pablo, Nevado, Julián

“…Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenetic hereditary renal disease, promoting end-stage renal disease (ESRD)…”
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Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype by Santos-Simarro, Fernando, Pacio, Marta, Cueto-González, Anna María, Mansilla, Elena, Valenzuela-Palafoll, María Irene, López-Grondona, Fermina, Lledín, María Dolores, Schuffelmann, Cristina, del Pozo, Ángela, Solis, Mario, Vallcorba, Patricia, Lapunzina, Pablo, Menéndez Suso, Juan José, Siccha, Sofia M., Montejo, Juan Manuel, Mena, Rocío, Jiménez-Rodríguez, Carmen, García-Miñaúr, Sixto, Palomares-Bralo, María

“…Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, characterized by mosaic aneuploidies involving multiple…”
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Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2 by Peces, Ramón, Mena, Rocío, Martín, Yolanda, Hernández, Concepción, Peces, Carlos, Tellería, Dolores, Cuesta, Emilio, Selgas, Rafael, Lapunzina, Pablo, Nevado, Julián

“…Background Autosomal dominant polycystic kidney disease (ADPKD) and neurofibromatosis type 1 (NF1) are both autosomal dominant disorders with a high rate of…”
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Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques by Tenorio, Jair, Romanelli, Valeria, Martin-Trujillo, Alex, Fernández, García-Moya, Segovia, Mabel, Perandones, Claudia, Pérez Jurado, Luis A., Esteller, Manel, Fraga, Mario, Arias, Pedro, Gordo, Gema, Dapía, Irene, Mena, Rocío, Palomares, María, Pérez de Nanclares, Guiomar, Nevado, Julián, García-Miñaur, Sixto, Santos-Simarro, Fernando, Martinez-Glez, Víctor, Vallespín, Elena, Monk, David, Lapunzina, Pablo

“…Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by an excessive prenatal and postnatal growth, macrosomia, macroglossia, and…”
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Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus by González-Atienza, Carmen, Sánchez-Cazorla, Eloísa, Villoldo-Fernández, Natalia, del Hierro, Almudena, Boto, Ana, Guerrero-Carretero, Marta, Nieves-Moreno, María, Arruti, Natalia, Rodríguez-Solana, Patricia, Mena, Rocío, Rodríguez-Jiménez, Carmen, Rosa-Pérez, Irene, Acal, Juan Carlos, Blasco, Joana, Naranjo-Castresana, Marta, Ruz-Caracuel, Beatriz, Montaño, Victoria E. F, Ortega Patrón, Cristina, Rubio-Martín, M. Esther, García-Fernández, Laura, Rikeros-Orozco, Emi, Gómez-Cano, María de Los Ángeles, Delgado-Mora, Luna, Noval, Susana, Vallespín, Elena

“…Keratoconus is a corneal dystrophy that is one of the main causes of corneal transplantation and for which there is currently no effective treatment for all…”
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Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report by Peces, Ramón, Mena, Rocío, Peces, Carlos, Santos‐Simarro, Fernando, Fernández, Luis, Afonso, Sara, Lapunzina, Pablo, Selgas, Rafael, Nevado, Julián

“…Background Congenital nephrogenic diabetes insipidus (NDI) is a rare condition characterized by severe polyuria, due to the inability of the kidneys to…”
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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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Molecular characterization of three new mutations causing C5 deficiency in two non-related families by López-Lera, Alberto, Garrido, Sofía, de la Cruz, Rocío Mena, Fontán, Gumersindo, López-Trascasa, Margarita

“…Deficiencies in complement components are rare diseases whose diagnosis is often underestimated. In addition, in only a few cases molecular studies have been…”
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INTEGRATION OF GAMIFICATION AND ACTIVE LEARNING IN THE CLASSROOM by Sergio Zepeda-Hernández, Rocío Abascal-Mena, Erick López-Ornelas

“…Teachers who currently use the traditional method teacher-centered learning, are having various difficulties with the new generations of students. New learning…”
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Analysis of SERPING1 expression on hereditary angioedema patients: Quantitative analysis of full-length and exon 3 splicing variants by Mena de la Cruz, Rocío, López-Lera, Alberto, López-Trascasa, Margarita

“…Highlights ► The expression of the SERPING1 (C1 inhibitor, C1-Inh) gene was analyzed in a hereditary angioedema (HAE) cohort from Spain. ► Total C1-Inh mRNA…”
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