High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency

著者: Parajes, Silvia, Quinteiro, Celsa, Domínguez, Fernando, Loidi, Lourdes
出版事項 2008

Genetic study of the hepcidin gene (HAMP) promoter and functional analysis of the c.-582A > G variant

著者: Parajes, Silvia, González-Quintela, Arturo, Campos, Joaquín, Quinteiro, Celsa, Domínguez, Fernando, Loidi, Lourdes
出版事項 2010

Determinants of Serum Concentrations of Lipopolysaccharide-Binding Protein (LBP) in the Adult Population: The Role of Obesity

著者: Gonzalez-Quintela, Arturo, Alonso, Manuela, Campos, Joaquin, Vizcaino, Luis, Loidi, Lourdes, Gude, Francisco
出版事項 2013

Pegvisomant-Induced Cholestatic Hepatitis in an Acromegalic Patient with UGT1A1 (⁎) 28 Mutation

著者: Mallea-Gil, Maria Susana, Bernabeu, Ignacio, Spiraquis, Adriana, Avangina, Alejandra, Loidi, Lourdes, Ballarino, Carolina
出版年 Case Rep Endocrinol (2016)

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

著者: 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
出版年 J Clin Med (2021)

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

著者: 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
出版年 Case Rep Endocrinol (2019)

Pendred Syndrome in Two Galician Families: Insights into Clinical Phenotypes through Cellular, Genetic, and Molecular Studies

著者: Palos, Fernando, García-Rendueles, María E. R., Araujo-Vilar, David, Obregon, Maria Jesús, Calvo, Rosa Maria, Cameselle-Teijeiro, Jose, Bravo, Susana B., Perez-Guerra, Oscar, Loidi, Lourdes, Czarnocka, Barbara, Alvarez, Paula, Refetoff, Samuel, Dominguez-Gerpe, Lourdes, Alvarez, Clara V., Lado-Abeal, Joaquin
出版事項 2008

Functional Consequences of Seven Novel Mutations in the CYP11B1 Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency

著者: Parajes, Silvia, Loidi, Lourdes, Reisch, Nicole, Dhir, Vivek, Rose, Ian T., Hampel, Rainer, Quinkler, Marcus, Conway, Gerard S., Castro-Feijóo, Lidia, Araujo-Vilar, David, Pombo, Manuel, Dominguez, Fernando, Williams, Emma L., Cole, Trevor R., Kirk, Jeremy M., Kaminsky, Elke, Rumsby, Gill, Arlt, Wiebke, Krone, Nils
出版事項 2010

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)(2)D serum levels are associated with PHEX mutation...

著者: Morey, Marcos, Castro-Feijóo, Lidia, Barreiro, Jesús, Cabanas, Paloma, Pombo, Manuel, Gil, Marta, Bernabeu, Ignacio, Díaz-Grande, José M, Rey-Cordo, Lourdes, Ariceta, Gema, Rica, Itxaso, Nieto, José, Vilalta, Ramón, Martorell, Loreto, Vila-Cots, Jaime, Aleixandre, Fernando, Fontalba, Ana, Soriano-Guillén, Leandro, García-Sagredo, José M, García-Miñaur, Sixto, Rodríguez, Berta, Juaristi, Saioa, García-Pardos, Carmen, Martínez-Peinado, Antonio, Millán, José M, Medeira, Ana, Moldovan, Oana, Fernandez, Angeles, Loidi, Lourdes
出版事項 2011

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

著者: Nitschke, Yvonne, Baujat, Geneviève, Botschen, Ulrike, Wittkampf, Tanja, du Moulin, Marcel, Stella, Jacqueline, Le Merrer, Martine, Guest, Geneviève, Lambot, Karen, Tazarourte-Pinturier, Marie-Frederique, Chassaing, Nicolas, Roche, Olivier, Feenstra, Ilse, Loechner, Karen, Deshpande, Charu, Garber, Samuel J., Chikarmane, Rashmi, Steinmann, Beat, Shahinyan, Tatevik, Martorell, Loreto, Davies, Justin, Smith, Wendy E., Kahler, Stephen G., McCulloch, Mignon, Wraige, Elizabeth, Loidi, Lourdes, Höhne, Wolfgang, Martin, Ludovic, Hadj-Rabia, Smaïl, Terkeltaub, Robert, Rutsch, Frank
出版事項 2012

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

著者: Kumar, Raman, Gardner, Alison, Homan, Claire C, Douglas, Evelyn, Mefford, Heather, Wieczorek, Dagmar, Lüdecke, Hermann-Josef, Stark, Zornitza, Sadedin, Simon, Nowak, Catherine Bearce, Douglas, Jessica, Parsons, Gretchen, Mark, Paul, Loidi, Lourdes, Herman, Gail E, Mosher, Theresa Mihalic, Gillespie, Meredith K, Brady, Lauren, Tarnopolsky, Mark, Madrigal, Irene, Eiris, Jesús, Salgado, Laura Domènech, Rabionet, Raquel, Strom, Tim M, Ishihara, Naoko, Inagaki, Hidehito, Kurahashi, Hiroki, Dudding-Byth, Tracy, Palmer, Elizabeth E, Field, Michael, Gecz, Jozef
出版年 Hum Mutat (2018)