Suchergebnisse - Nevado, Julian

Transcriptional activation by artificial recruitment in mammalian cells von Nevado, Julián, Gaudreau, Luc, Adam, Maryse, Ptashne, Mark

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Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report von Peces, Ramón, Afonso, Sara, Peces, Carlos, Nevado, Julián, Selgas, Rafael

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Polyphenols Attenuate Highly-Glycosylated Haemoglobin-Induced Damage in Human Peritoneal Mesothelial Cells von Sánchez-Rodríguez, Carolina, Peiró, Concepción, Rodríguez-Mañas, Leocadio, Nevado, Julián

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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 to... von Peces, Ramón, Mena, Rocío, Peces, Carlos, Cuesta, Emilio, Lapunzina, Pablo, Selgas, Rafael, Nevado, Julián

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Transcriptional activation by artificial recruitment in yeast is influenced by promoter architecture and downstream sequences von Gaudreau, Luc, Keaveney, Marie, Nevado, Julián, Zaman, Zafar, Bryant, Gene O., Struhl, Kevin, Ptashne, Mark

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

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First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities von Candelo, Estephania, Caicedo, Gabriela, Rosso, Fernando, Ballesteros, Adriana, Orrego, Jaime, Escobar, Luis, Lapunzina, Pablo, Nevado, Julían, Pachajoa, Harry

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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 von Peces, Ramón, Mena, Rocío, Peces, Carlos, Santos‐Simarro, Fernando, Fernández, Luis, Afonso, Sara, Lapunzina, Pablo, Selgas, Rafael, Nevado, Julián

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Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2 von Peces, Ramón, Mena, Rocío, Martín, Yolanda, Hernández, Concepción, Peces, Carlos, Tellería, Dolores, Cuesta, Emilio, Selgas, Rafael, Lapunzina, Pablo, Nevado, Julián

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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 von 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 von Peces, Ramón, Peces, Carlos, Mena, Rocío, Cuesta, Emilio, García-Santiago, Fe Amalia, Ossorio, Marta, Afonso, Sara, Lapunzina, Pablo, Nevado, Julián

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Glycosylated human oxyhaemoglobin activates nuclear factor-κB and activator protein-1 in cultured human aortic smooth muscle von Peiró, Concepción, Matesanz, Nuria, Nevado, Julián, Lafuente, Nuria, Cercas, Elena, Azcutia, Verónica, Vallejo, Susana, Rodríguez-Mañas, Leocadio, Sánchez-Ferrer, Carlos F

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Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature von Rivera-Pedroza, Carlos I., Barraza-García, Jimena, Paumard-Hernández, Beatriz, Nevado, Julian, Orbea-Gallardo, Carlos, Sánchez del Pozo, Jaime, Heath, Karen E.

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A Possible Association Between Zika Virus Infection and CDK5RAP2 Mutation von Candelo, Estephania, Sanz, Ana Maria, Ramirez-Montaño, Diana, Diaz-Ordoñez, Lorena, Granados, Ana Maria, Rosso, Fernando, Nevado, Julian, Lapunzina, Pablo, Pachajoa, Harry

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Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases von Bueno, Anibal, Rodríguez-López, Rocío, Reyes-Palomares, Armando, Rojano, Elena, Corpas, Manuel, Nevado, Julián, Lapunzina, Pablo, Sánchez-Jiménez, Francisca, Ranea, Juan A. G.

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Amadori adducts activate nuclear factor-κB-related proinflammatory genes in cultured human peritoneal mesothelial cells von Nevado, Julián, Peiró, Concepción, Vallejo, Susana, El-Assar, Mariam, Lafuente, Nuria, Matesanz, Nuria, Azcutia, Veronica, Cercas, Elena, Sánchez-Ferrer, Carlos F, Rodríguez-Mañas, Leocadio

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Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension von Gallego, Natalia, Cruz-Utrilla, Alejandro, Guillén, Inmaculada, Bonora, Amparo Moya, Ochoa, Nuria, Arias, Pedro, Lapunzina, Pablo, Escribano-Subias, Pilar, Nevado, Julián, Tenorio-Castaño, Jair

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Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome von Campuzano, Victoria, Segura-Puimedon, Maria, Terrado, Verena, Sánchez-Rodríguez, Carolina, Coustets, Mathilde, Menacho-Márquez, Mauricio, Nevado, Julián, Bustelo, Xosé R., Francke, Uta, Pérez-Jurado, Luis A.

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

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Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management von Cammarata-Scalisi, Francisco, Callea, Michele, Martinelli, Diego, Willoughby, Colin Eric, Tadich, Antonio Cárdenas, Araya Castillo, Maykol, Lacruz-Rengel, María Angelina, Medina, Marco, Grimaldi, Piercesare, Bertini, Enrico, Nevado, Julián

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