Transcriptional activation by artificial recruitment in mammalian cells

Por Nevado, Julián, Gaudreau, Luc, Adam, Maryse, Ptashne, Mark
Publicado em 1999

Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report

Por Peces, Ramón, Afonso, Sara, Peces, Carlos, Nevado, Julián, Selgas, Rafael
Publicado no BMC Med Genet (2017)

Polyphenols Attenuate Highly-Glycosylated Haemoglobin-Induced Damage in Human Peritoneal Mesothelial Cells

Por Sánchez-Rodríguez, Carolina, Peiró, Concepción, Rodríguez-Mañas, Leocadio, Nevado, Julián
Publicado no Antioxidants (Basel) (2020)

Transcriptional activation by artificial recruitment in yeast is influenced by promoter architecture and downstream sequences

Por Gaudreau, Luc, Keaveney, Marie, Nevado, Julián, Zaman, Zafar, Bryant, Gene O., Struhl, Kevin, Ptashne, Mark
Publicado em 1999

Simpson-Golabi-Behmel syndrome types I and II

Por Tenorio, Jair, Arias, Pedro, Martínez-Glez, Víctor, Santos, Fernando, García-Miñaur, Sixto, Nevado, Julián, Lapunzina, Pablo
Publicado no Orphanet J Rare Dis (2014)

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

Por Candelo, Estephania, Caicedo, Gabriela, Rosso, Fernando, Ballesteros, Adriana, Orrego, Jaime, Escobar, Luis, Lapunzina, Pablo, Nevado, Julían, Pachajoa, Harry
Publicado no Appl Clin Genet (2019)

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report

Por Peces, Ramón, Mena, Rocío, Peces, Carlos, Santos‐Simarro, Fernando, Fernández, Luis, Afonso, Sara, Lapunzina, Pablo, Selgas, Rafael, Nevado, Julián
Publicado no Mol Genet Genomic Med (2019)

Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

Por Peces, Ramón, Mena, Rocío, Martín, Yolanda, Hernández, Concepción, Peces, Carlos, Tellería, Dolores, Cuesta, Emilio, Selgas, Rafael, Lapunzina, Pablo, Nevado, Julián
Publicado no Mol Genet Genomic Med (2020)

Glycosylated human oxyhaemoglobin activates nuclear factor-κB and activator protein-1 in cultured human aortic smooth muscle

Por Peiró, Concepción, Matesanz, Nuria, Nevado, Julián, Lafuente, Nuria, Cercas, Elena, Azcutia, Verónica, Vallejo, Susana, Rodríguez-Mañas, Leocadio, Sánchez-Ferrer, Carlos F
Publicado em 2003

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

Por Rivera-Pedroza, Carlos I., Barraza-García, Jimena, Paumard-Hernández, Beatriz, Nevado, Julian, Orbea-Gallardo, Carlos, Sánchez del Pozo, Jaime, Heath, Karen E.
Publicado no Mol Syndromol (2017)

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases

Por Bueno, Anibal, Rodríguez-López, Rocío, Reyes-Palomares, Armando, Rojano, Elena, Corpas, Manuel, Nevado, Julián, Lapunzina, Pablo, Sánchez-Jiménez, Francisca, Ranea, Juan A. G.
Publicado no Eur J Hum Genet (2018)

Amadori adducts activate nuclear factor-κB-related proinflammatory genes in cultured human peritoneal mesothelial cells

Por Nevado, Julián, Peiró, Concepción, Vallejo, Susana, El-Assar, Mariam, Lafuente, Nuria, Matesanz, Nuria, Azcutia, Veronica, Cercas, Elena, Sánchez-Ferrer, Carlos F, Rodríguez-Mañas, Leocadio
Publicado em 2005

Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome

Por 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.
Publicado em 2012

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

Por 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
Publicado em 2013

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

Por Delicado, Alicia, Fernández, Luis, de Torres, María Luisa, Nevado, Julián, García-Santiago, Fe Amalia, Rodríguez, Roberto, Mansilla, Elena, Palomares, María, Santos-Simarro, Fernando, Vallespín, Elena, Mori, María Ángeles, Lapunzina, Pablo
Publicado no BMC Med Genet (2014)

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

Por Blanco-Kelly, Fiona, Palomares, María, Vallespín, Elena, Villaverde, Cristina, Martín-Arenas, Rubén, Vélez-Monsalve, Camilo, Lorda-Sánchez, Isabel, Nevado, Julián, Trujillo-Tiebas, María José, Lapunzina, Pablo, Ayuso, Carmen, Corton, Marta
Publicado no PLoS One (2017)

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

Por Fernández, Luis, Nevado, Julián, Santos, Fernando, Heine-Suñer, Damià, Martinez-Glez, Victor, García-Miñaur, Sixto, Palomo, Rebeca, Delicado, Alicia, Pajares, Isidora López, Palomares, María, García-Guereta, Luis, Valverde, Eva, Hawkins, Federico, Lapunzina, Pablo
Publicado em 2009

Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

Por Romanelli, Valeria, Meneses, Heloisa N M, Fernández, Luis, Martínez-Glez, Victor, Gracia-Bouthelier, Ricardo, F Fraga, Mario, Guillén, Encarna, Nevado, Julián, Gean, Esther, Martorell, Loreto, Marfil, Victoria Esteban, García-Miñaur, Sixto, Lapunzina, Pablo
Publicado em 2011

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

Por Armengol, Lluís, Nevado, Julián, Serra-Juhé, Clara, Plaja, Alberto, Mediano, Carmen, García-Santiago, Fe Amalia, García-Aragonés, Manel, Villa, Olaya, Mansilla, Elena, Preciado, Cristina, Fernández, Luis, Mori, María Ángeles, García-Pérez, Lidia, Lapunzina, Pablo Daniel, Pérez-Jurado, Luis Alberto
Publicado em 2011

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

Por Blackburn, Patrick R., Zepeda-Mendoza, Cinthya J., Kruisselbrink, Teresa M., Schimmenti, Lisa A., García-Miñaur, Sixto, Palomares, María, Nevado, Julián, Mori, María A., Le Meur, Guylène, Klee, Eric W., Le Caignec, Cédric, Lapunzina, Pablo, Isidor, Bertrand, Babovic-Vuksanovic, Dusica
Publicado no Eur J Hum Genet (2019)