Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome
Nevado, Julián, Bel-Fenellós, Cristina, Sandoval-Talamantes, Ana Karen, Hernández, Adolfo, Biencinto-López, Chantal, Martínez-Fernández, María Luisa, Barrúz, Pilar, Santos-Simarro, Fernando, Mori-Álvarez, María Ángeles, Mansilla, Elena, García-Santiago, Fé Amalia, Valcorba, Isabel, Sáenz-Rico, Belén, Martínez-Frías, María Luisa, Lapunzina, Pablo
Published in Frontiers in genetics (30.07.2021)
Published in Frontiers in genetics (30.07.2021)
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International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay
Nevado, Julián, Ho, Karen S., Zollino, Marcella, Blanco, Raquel, Cobaleda, César, Golzio, Christelle, Beaudry‐Bellefeuille, Isabelle, Berrocoso, Sarah, Limeres, Jacobo, Barrúz, Pilar, Serrano‐Martín, Candela, Cafiero, Concetta, Málaga, Ignacio, Marangi, Giuseppe, Campos‐Sánchez, Elena, Moriyón‐Iglesias, Tania, Márquez, Sorangui, Markham, Leah, Twede, Hope, Lortz, Amanda, Olson, Lenora, Sheng, Xiaoming, Weng, Cindy, Wassman, Edward Robert, Newcomb, Tara, Wassman, Edward Robert, Carey, John C., Battaglia, Agatino, López‐Granados, Eduardo, Douglas, Damien, Lapunzina, Pablo
Published in American journal of medical genetics. Part A (01.01.2020)
Published in American journal of medical genetics. Part A (01.01.2020)
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Journal Article
Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays
Cammarata-Scalisi, Francisco, Blanco Lago, Raquel, Barruz Galián, Pilar, Lapunzina Badía, Pablo, Araque, Dianora, Da Silva, Gloria, Lacruz-Rengel, María A, Avendaño, Andrea, Nevado Blanco, Julián
Published in Archivos argentinos de pediatría (01.08.2019)
Published in Archivos argentinos de pediatría (01.08.2019)
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GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome
Palencia-Campos, Adrian, Ullah, Asmat, Nevado, Julian, Yildirim, Ruken, Unal, Edip, Ciorraga, Maria, Barruz, Pilar, Chico, Lucia, Piceci-Sparascio, Francesca, Guida, Valentina, De Luca, Alessandro, Kayserili, Hülya, Ullah, Irfan, Burmeister, Margit, Lapunzina, Pablo, Ahmad, Wasim, Morales, Aixa V, Ruiz-Perez, Victor L
Published in Human molecular genetics (01.12.2017)
Published in Human molecular genetics (01.12.2017)
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Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early‐onset and fast cyst progression
Peces, Ramón, Mena, Rocio, Peces, Carlos, Cuesta, Emilio, Selgas, Rafael, Barruz, Pilar, Lapunzina, Pablo, Nevado, Julián
Published in Clinical genetics (01.06.2020)
Published in Clinical genetics (01.06.2020)
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Longitudinal Changes in Epigenetic Age Acceleration in Aviremic Human Immunodeficiency Virus–Infected Recipients of Long-term Antiretroviral Treatment
Esteban-Cantos, Andrés, Montejano, Rocio, Rodríguez-Centeno, Javier, Saiz-Medrano, Gabriel, De Miguel, Rosa, Barruz, Pilar, Bernardino, Jose I, Mena-Garay, Beatriz, Cadiñanos, Julen, Jiménez-González, María, Nevado, Julián, Valencia, Eulalia, Mayoral-Muñoz, Mario, Arribas, Jose R, Rodés, Berta
Published in The Journal of infectious diseases (18.01.2022)
Published in The Journal of infectious diseases (18.01.2022)
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Epigenetic age acceleration changes 2 years after antiretroviral therapy initiation in adults with HIV: a substudy of the NEAT001/ANRS143 randomised trial
Esteban-Cantos, Andrés, Rodríguez-Centeno, Javier, Barruz, Pilar, Alejos, Belén, Saiz-Medrano, Gabriel, Nevado, Julián, Martin, Artur, Gayá, Francisco, De Miguel, Rosa, Bernardino, Jose I, Montejano, Rocío, Mena-Garay, Beatriz, Cadiñanos, Julen, Florence, Eric, Mulcahy, Fiona, Banhegyi, Denes, Antinori, Andrea, Pozniak, Anton, Wallet, Cédrick, Raffi, François, Rodés, Berta, Arribas, Jose R
Published in The lancet HIV (01.04.2021)
Published in The lancet HIV (01.04.2021)
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Journal Article
Historical and geographical distribution of the founder mutation c.610GA; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain
Peces, Ramon, Mena, Rocio, Peces, Carlos, Barruz, Pilar, Trujillo, Hernando, Carreno, Agustin, Espinosa, Laura, Selgas, Rafael, Lapunzina, Pablo, Nevado, Julian
Published in Clinical kidney journal (01.08.2021)
Published in Clinical kidney journal (01.08.2021)
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Journal Article
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
Nevado, Julián, García-Miñaúr, Sixto, Palomares-Bralo, María, Vallespín, Elena, Guillén-Navarro, Encarna, Rosell, Jordi, Bel-Fenellós, Cristina, Mori, María Ángeles, Milá, Montserrat, Del Campo, Miguel, Barrúz, Pilar, Santos-Simarro, Fernando, Obregón, Gabriela, Orellana, Carmen, Pachajoa, Harry, Tenorio, Jair Antonio, Galán, Enrique, Cigudosa, Juan C, Moresco, Angélica, Saleme, César, Castillo, Silvia, Gabau, Elisabeth, Pérez-Jurado, Luis, Barcia, Ana, Martín, Maria Soledad, Mansilla, Elena, Vallcorba, Isabel, García-Murillo, Pedro, Cammarata-Scalisi, Franco, Gonçalves Pereira, Natálya, Blanco-Lago, Raquel, Serrano, Mercedes, Ortigoza-Escobar, Juan Dario, Gener, Blanca, Seidel, Verónica Adriana, Tirado, Pilar, Lapunzina, Pablo
Published in Frontiers in genetics (12.04.2022)
Published in Frontiers in genetics (12.04.2022)
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Journal Article
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
Peces, Ramón, Mena, Rocío, Peces, Carlos, Barruz, Pilar, Trujillo, Hernando, Carreño, Agustín, Espinosa, Laura, Selgas, Rafael, Lapunzina, Pablo, Nevado, Julián
Published in Clinical Kidney Journal (01.08.2021)
Published in Clinical Kidney Journal (01.08.2021)
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Journal Article
Effect of HIV infection and antiretroviral therapy initiation on genome-wide DNA methylation patternsResearch in context
Andrés Esteban-Cantos, Javier Rodríguez-Centeno, Juan C. Silla, Pilar Barruz, Fátima Sánchez-Cabo, Gabriel Saiz-Medrano, Julián Nevado, Beatriz Mena-Garay, María Jiménez-González, Rosa de Miguel, Jose I. Bernardino, Rocío Montejano, Julen Cadiñanos, Cristina Marcelo, Lucía Gutiérrez-García, Patricia Martínez-Martín, Cédrick Wallet, François Raffi, Berta Rodés, José R. Arribas
Published in EBioMedicine (01.02.2023)
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Published in EBioMedicine (01.02.2023)
Journal Article
Effect of HIV infection and antiretroviral therapy initiation on genome-wide DNA methylation patterns
Esteban-Cantos, Andrés, Rodríguez-Centeno, Javier, Silla, Juan C., Barruz, Pilar, Sánchez-Cabo, Fátima, Saiz-Medrano, Gabriel, Nevado, Julián, Mena-Garay, Beatriz, Jiménez-González, María, de Miguel, Rosa, Bernardino, Jose I., Montejano, Rocío, Cadiñanos, Julen, Marcelo, Cristina, Gutiérrez-García, Lucía, Martínez-Martín, Patricia, Wallet, Cédrick, Raffi, François, Rodés, Berta, Arribas, José R.
Published in EBioMedicine (01.02.2023)
Published in EBioMedicine (01.02.2023)
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Journal Article
Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review
Blanco-Lago, R, Malaga-Dieguez, I, Granizo-Martinez, J J, Carrera-Garcia, L, Barruz-Galian, P, Lapunzina, P, Nevado-Blanco, J, En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn, En Representacion Del Grupo Colaborativo Para El Estudio Del Sindrome de Wolf-Hirschhorn
Published in Revista de neurologiá (01.05.2017)
Published in Revista de neurologiá (01.05.2017)
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Journal Article
Síndrome de Wolf-Hirschhorn: Descripción de cinco casos caracterizados por microarrays de polimorfismos de nucleótido único
Cammarata-Scalisi, Francisco, Blanco Lago, Raquel, Barruz Galián, Pilar, Lapunzina Badía, Pablo, Araque, Dianora, Da Silva, Gloria, Lacruz-Rengel, María A, Avendaño, Andrea, Nevado Blanco, Julián
Published in Archivos argentinos de pediatría (01.08.2019)
Published in Archivos argentinos de pediatría (01.08.2019)
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Journal Article
Síndrome de Wolf-Hirschhorn. Descripción de una cohorte española de 51 casos y revisión de la bibliografía
Blanco Lago, Raquel, Málaga Diéguez, Ignacio, Granizo Martínez, Juan José, Carrera García, Laura, Barruz Galián, Pilar, Lapunzina, Pablo, Nevado Blanco, Julián, en representación del Grupo Colabo, AA.VV
Published in Revista de neurologiá (2017)
Published in Revista de neurologiá (2017)
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