ECLip-the European consortium on lipodystrophies: an update

gan Araújo-Vilar, David
Cyhoeddwyd yn Orphanet J Rare Dis (2015)

Laminopathies

gan Lattanzi, Giovanna, Maggi, Lorenzo, Araujo-Vilar, David
Cyhoeddwyd yn Nucleus (2018)

Clinical Utility Gene Card for: Congenital Generalized Lipodystrophy

gan Jéru, Isabelle, Vatier, Camille, Araujo-Vilar, David, Vigouroux, Corinne, Lascols, Olivier
Cyhoeddwyd yn Eur J Hum Genet (2016)

Clinical Utility Gene Card for: Familial partial lipodystrophy

gan Jéru, Isabelle, Vatier, Camille, Araujo-Vilar, David, Vigouroux, Corinne, Lascols, Olivier
Cyhoeddwyd yn Eur J Hum Genet (2017)

Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges

gan Chiquette, Elaine, Oral, Elif A, Garg, Abhimanyu, Araújo-Vilar, David, Dhankhar, Praveen
Cyhoeddwyd yn Diabetes Metab Syndr Obes (2017)

Lipodystrophic laminopathies: Diagnostic clues

gan Guillín-Amarelle, Cristina, Fernández-Pombo, Antía, Sánchez-Iglesias, Sofía, Araújo-Vilar, David
Cyhoeddwyd yn Nucleus (2018)

LMNA missense mutations causing familial partial lipodystrophy do not lead to an accumulation of prelamin A

gan Tu, Yiping, Sánchez-Iglesias, Sofía, Araújo-Vilar, David, Fong, Loren G., Young, Stephen G.
Cyhoeddwyd yn Nucleus (2016)

Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy

gan Corvillo, Fernando, Aparicio, Verónica, López-Lera, Alberto, Garrido, Sofía, Araújo-Vilar, David, de Miguel, María P., López-Trascasa, Margarita
Cyhoeddwyd yn Front Immunol (2018)

Long-term effectiveness and safety of metreleptin in the treatment of patients with partial lipodystrophy

gan Oral, Elif A., Gorden, Phillip, Cochran, Elaine, Araújo-Vilar, David, Savage, David B., Long, Alison, Fine, Gregory, Salinardi, Taylor, Brown, Rebecca
Cyhoeddwyd yn Endocrine (2019)

Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy

gan Brown, Rebecca J., Oral·, Elif A., Cochran, Elaine, Araújo-Vilar, David, Savage, David B., Long, Alison, Fine, Gregory, Salinardi, Taylor, Gorden, Phillip
Cyhoeddwyd yn Endocrine (2018)

Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene

gan Araújo-Vilar, David, Sánchez-Iglesias, Sofía, Castro, Ana I., Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Rodríguez-Carnero, Gemma, Casanueva, Felipe F., Fernández-Pombo, Antía
Cyhoeddwyd yn J Clin Med (2021)

Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant

gan Araújo-Vilar, David, Fernández-Pombo, Antía, Victoria, Berta, Mosquera-Orgueira, Adrián, Cobelo-Gómez, Silvia, Castro-Pais, Ana, Hermida-Ameijeiras, Álvaro, Loidi, Lourdes, Sánchez-Iglesias, Sofía
Cyhoeddwyd yn J Clin Med (2021)

Celia’s Encephalopathy (BSCL2-Gene-Related): Current Understanding

gan Sánchez-Iglesias, Sofía, Fernández-Pombo, Antía, Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Alarcón-Martínez, Helena, Domingo-Jiménez, Rosario, Ruíz Riquelme, Alejandro Iván, Requena, Jesús R., Araújo-Vilar, David
Cyhoeddwyd yn J Clin Med (2021)

Skipped BSCL2 Transcript in Celia’s Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis

gan Sánchez-Iglesias, Sofía, Unruh-Pinheiro, Alexander, Guillín-Amarelle, Cristina, González-Méndez, Blanca, Ruiz-Riquelme, Alejandro, Rodríguez-Cañete, Blanca Leticia, Rodríguez-García, Silvia, Guillén-Navarro, Encarnación, Domingo-Jiménez, Rosario, Araújo-Vilar, David
Cyhoeddwyd yn PLoS One (2016)

Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

gan Fernández-Pombo, Antía, Cameselle-Teijeiro, José M., Puñal-Rodríguez, Jose A., Loidi, Lourdes, Peinó-García, Roberto, Cabanas-Rodríguez, Paloma, Garrido-Pumar, Miguel, Baleato-González, Sandra, Flores-Ríos, Enrique, Araújo-Vilar, David
Cyhoeddwyd yn Case Rep Endocrinol (2019)

Immunological features of patients affected by Barraquer-Simons syndrome

gan Corvillo, Fernando, Ceccarini, Giovanni, Nozal, Pilar, Magno, Silvia, Pelosini, Caterina, Garrido, Sofía, López-Lera, Alberto, Moraru, Manuela, Vilches, Carlos, Fornaciari, Silvia, Gabbriellini, Sabrina, Santini, Ferruccio, Araújo-Vilar, David, López-Trascasa, Margarita
Cyhoeddwyd yn Orphanet J Rare Dis (2020)

Correction to: Immunological features of patients affected by Barraquer-Simons syndrome

gan Corvillo, Fernando, Ceccarini, Giovanni, Nozal, Pilar, Magno, Silvia, Pelosini, Caterina, Garrido, Sofía, López-Lera, Alberto, Moraru, Manuela, Vilches, Carlos, Fornaciari, Silvia, Gabbriellini, Sabrina, Santini, Ferruccio, Araújo-Vilar, David, López-Trascasa, Margarita
Cyhoeddwyd yn Orphanet J Rare Dis (2020)

Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer–Simons syndrome)

gan Corvillo, Fernando, González-Sánchez, Laura, López-Lera, Alberto, Arjona, Emilia, Ceccarini, Giovanni, Santini, Ferruccio, Araújo-Vilar, David, Brown, Rebecca J, Villarroya, Joan, Villarroya, Francesc, Rodríguez de Córdoba, Santiago, Caballero, Teresa, Nozal, Pilar, López-Trascasa, Margarita
Cyhoeddwyd yn Int J Mol Sci (2021)

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

gan Araujo-Vilar, David, Sánchez-Iglesias, Sofía, Guillín-Amarelle, Cristina, Castro, Ana, Lage, Mary, Pazos, Marcos, Rial, José Manuel, Blasco, Javier, Guillén-Navarro, Encarna, Domingo-Jiménez, Rosario, del Campo, María Ruiz, González-Méndez, Blanca, Casanueva, Felipe F.
Cyhoeddwyd yn Endocrine (2014)

Altered adipocyte differentiation and unbalanced autophagy in type 2 Familial Partial Lipodystrophy: an in vitro and in vivo study of adipose tissue browning

gan Pellegrini, Camilla, Columbaro, Marta, Schena, Elisa, Prencipe, Sabino, Andrenacci, Davide, Iozzo, Patricia, Angela Guzzardi, Maria, Capanni, Cristina, Mattioli, Elisabetta, Loi, Manuela, Araujo-Vilar, David, Squarzoni, Stefano, Cinti, Saverio, Morselli, Paolo, Giorgetti, Assuero, Zanotti, Laura, Gambineri, Alessandra, Lattanzi, Giovanna
Cyhoeddwyd yn Exp Mol Med (2019)