Søgeresultater - Julián Nevado

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  1. 1
    Simpson-Golabi-Behmel syndrome types I and II

    Simpson-Golabi-Behmel syndrome types I and II af Jair Tenorio, Pedro Arias, Víctor Martínez‐Glez, Fernando Santos, Sixto García‐Miñaúr, Julián Nevado, Pablo Lapunzina

    Udgivet 2014
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  2. 2
    Extracellular PBEF/NAMPT/visfatin activates pro-inflammatory signalling in human vascular smooth muscle cells through nicotinamide phosphoribosyltransferase activity

    Extracellular PBEF/NAMPT/visfatin activates pro-inflammatory signalling in human vascular smooth muscle cells through nicotinamide phosphoribosyltransferase activity af Tania Romacho, Verónica Azcutia, Marta Vázquez-Bella, Nuria Matesanz, Elena Cercas, Julián Nevado, Raffaele Carraro, Leocadio Rodríguez‐Mañas, Carlos F. Sánchez‐Ferrer, Concepción Peiró

    Udgivet 2009
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  3. 3
    Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature

    Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature af Gallego-Zazo, Natalia, Cruz-Utrilla, Alejandro, del Cerro, María Jesús, Ochoa Parra, Nuria, Blanco, Julián Nevado, Arias, Pedro, Lapunzina, Pablo, Escribano-Subias, Pilar, Tenorio-Castaño, Jair

    Udgivet 2022
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  4. 4
    Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

    Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain af Hannah Verdin, Barbara D′haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julián Nevado, Claudia M.B. Carvalho, James R. Lupski, Elfride De Baere

    Udgivet 2013
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  5. 5
    The anticancer drug cisplatin induces an intrinsic apoptotic pathway inside the inner ear

    The anticancer drug cisplatin induces an intrinsic apoptotic pathway inside the inner ear af José Ramón García‐Berrocal, Julián Nevado, Rafael Ramírez‐Camacho, Ricardo Sanz‐Fernández, José Ángel González-García, Carolina Sánchez‐Rodríguez, Blanca Cantos, Pilar España, José María Verdaguer, Andres Cabezas

    Udgivet 2007
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  6. 6
    Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

    Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome af Michael Schön, Pablo Lapunzina, Julián Nevado, Teresa Mattina, Cecilia Gunnarsson, Kinga Hadzsiev, Chiara Verpelli, Thomas Bourgeron, Sarah Jesse, Conny M.A. van Ravenswaaij‐Arts, Raoul C. M. Hennekam

    Udgivet 2023
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  7. 7
    Endothelial dysfunction in aged humans is related with oxidative stress and vascular inflammation

    Endothelial dysfunction in aged humans is related with oxidative stress and vascular inflammation af Leocadio Rodríguez‐Mañas, Mariam El‐Assar, Susana Vallejo, Pedro López‐Dóriga, Joaquı́n Solı́s, Roberto Petidier Torregrossa, Manuel Montes, Julián Nevado, Marta Castro, Carmen Gómez‐Guerrero, Concepción Peiró, Carlos F. Sánchez‐Ferrer

    Udgivet 2009
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  8. 8
    Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

    Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas af Patricia Sarrión, Anna Sangorrin, Roser Urreizti, María Andrea Delgado, Rafael Artuch, Loreto Martorell, Judith Armstrong, Jordi Antón, Ferrán Torner, Marina Vilaseca, Julián Nevado, Pablo Lapunzina, Carla Asteggiano, Susana Balcells, Daniel Grinberg

    Udgivet 2013
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  9. 9
    A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

    A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review af Luís Fernández, Julián Nevado, Fernando Santos, Damián Heine‐Suñer, Víctor Martínez‐Glez, Sixto García‐Miñaúr, R. Garrido Palomo, Alicia Delicado, I. López Pajares, María Palomares‐Bralo, Luis García‐Guereta, Eva Valverde, Federico Hawkins, Pablo Lapunzina

    Udgivet 2009
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  10. 10
    Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

    Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants af Leila Cabral de Almeida Cardoso, Alejandro Parra, Cristina Ríos Gil, Pedro Arias, Natalia Gallego, Valeria Romanelli, Piranit Nik Kantaputra, L.S. Lima, Juan Clinton Llerena Júnior, Claudia Arberas, Encarna Guillén‐Navarro, Julián Nevado, Jair Tenorio, Pablo Lapunzina

    Udgivet 2022
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  11. 11
    Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

    Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis af Lluı́s Armengol, Julián Nevado, Clara Serra‐Juhé, Alberto Plaja, C. Mediano, Fe Amalia García‐Santiago, Manel García‐Aragonés, Olaya Villa, Elena Mansilla, Cristina Preciado, Luís Fernández, María Ángeles Mori, Lidia García‐Pérez, Pablo Lapunzina, Luis A. Pérez‐Jurado

    Udgivet 2011
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  12. 12
    A six-attribute classification of geneticmosaicism

    A six-attribute classification of geneticmosaicism af Víctor Martínez‐Glez, Jair Tenorio, Julián Nevado, Gema Gordo, Lara Rodríguez‐Laguna, Marta Feito Rodríguez, R. de Lucas, Luis A. Pérez‐Jurado, Víctor L. Ruiz‐Pérez, Antonio Torrelo, Nancy B. Spinner, Rudolf Happle, Leslie G. Biesecker, Pablo Lapunzina

    Udgivet 2020
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  13. 13
    Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients

    Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients af Leila C.A. Cardoso, Jair Tenorio, H. Soares Pereira, Maria Angélica de F.D. Lima, Anna Cláudia Evangelista dos Santos, P.S. Faria, Sima Ferman, Héctor N. Seuánez, Julián Nevado, José Carlos Cabral de Almeida, Pablo Lapunzina, Fernando Regla Vargas

    Udgivet 2012
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  14. 14
    New microdeletion and microduplication syndromes: a comprehensive review

    New microdeletion and microduplication syndromes: a comprehensive review af Julián Nevado, Rafaella Mergener, María Palomares‐Bralo, Karen Regina de Souza, Elena Vallespín, Rocío Mena, Víctor Martínez‐Glez, María Ángeles Mori, Fernando Santos, Sixto García‐Miñaúr, Fe Amalia García‐Santiago, Elena Mansilla, Luís Fernández, María Torres, Mariluce Riegel, Pablo Lapunzina

    Udgivet 2014
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  15. 15
    GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome

    GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome af Adrián Palencia‐Campos, Asmat Ullah, Julián Nevado, Ruken Yıldırım, Edip Ünal, María Ciorraga, Pilar Barrúz, Lucia Chico, Francesca Piceci‐Sparascio, Valentina Guida, Alessandro De Luca, Hülya Kayserili, Irfan Ullah, Margit Burmeister, Pablo Lapunzina, Wasim Ahmad, Aixa V. Morales, Víctor L. Ruiz‐Pérez

    Udgivet 2017
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  16. 16
    Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism

    Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism af Valeria Romanelli, Julián Nevado, Mario F. Fraga, Alejandro Martin Trujillo, M. A. Mori, Luis Carlos Sainz Fernandez, Guiomar Pérez de Nanclares, Víctor Martínez‐Glez, Guillermo Pita, H. Meneses, R Gracia, Sixto García‐Miñaúr, Purificación García de Miguel, Beatriz Lecumberri, José Ignacio Rodrı́guez, Anna González‐Neira, David Monk, Pablo Lapunzina

    Udgivet 2010
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  17. 17
    Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

    Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium af José A. Caparrós‐Martín, Alessandro De Luca, François Cartault, Mona Aglan, Samia A. Temtamy, Ghada A. Otaify, Mennat Mehrez, Eulalia Valencia, Laura Vázquez, Jean-Luc Alessandri, Julián Nevado, Inmaculada Rueda‐Arenas, Karen E. Heath, M. Cristina Digilio, Bruno Dallapiccola, Judith A. Goodship, Pleasantine Mill, Pablo Lapunzina, Víctor L. Ruiz‐Pérez

    Udgivet 2015
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  18. 18
    <i>mTOR</i> mutations in Smith‐Kingsmore syndrome: Four additional patients and a review

    <i>mTOR</i> mutations in Smith‐Kingsmore syndrome: Four additional patients and a review af Gema Gordo, Jair Tenorio, Pedro Arias, Fernando Santos‐Simarro, Sixto García‐Miñaúr, J.C. Moreno, Julián Nevado, Elena Vallespín, Lara Rodríguez‐Laguna, Rafael Mena‐Osuna, Irene Dapía, María Palomares‐Bralo, Ángela del Pozo, Kristina Ibáñez, Juan Carlos Silla-Castro, Eva Barroso, Víctor L. Ruiz‐Pérez, Víctor Martínez‐Glez, Pablo Lapunzina

    Udgivet 2017
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  19. 19
    Effect of HIV infection and antiretroviral therapy initiation on genome-wide DNA methylation patterns

    Effect of HIV infection and antiretroviral therapy initiation on genome-wide DNA methylation patterns af Andrés Esteban-Cantos, Javier Rodríguez-Centeno, Juan Carlos Silla-Castro, Pilar Barrúz, Fátima Sánchez‐Cabo, Gabriel Saiz-Medrano, Julián Nevado, Beatriz Mena-Garay, María Jiménez-González, Rosa de Miguel Buckley, José Ignacio Bernardino, Rocío Montejano, Julen Cadiñanos, Cristina Marcelo, Lucía Gutiérrez-García, Patricia Martínez, Cédrick Wallet, F. Raffi, Berta Rodés, José Ramón Arribas

    Udgivet 2023
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  20. 20
    The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways

    The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways af Marta García, Raquel Barrio, Montserrat García-Lavandeira, Ángela R. Garcia-Rendueles, Adela Escudero, Esther Díaz‐Rodriguez, Darya Gorbenko del Blanco, Ana Fernández, Yolanda B. de Rijke, Elena Vallespín, Julián Nevado, Pablo Lapunzina, Vilborg Matre, Patricia M. Hinkle, Anita C. S. Hokken‐Koelega, María P. De Miguel, José Cameselle‐Teijeiro, Manuel Nistal, Clara V. Álvarez, J.C. Moreno

    Udgivet 2017
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