Lourdes Loidi

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

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen et al. · The American Journal of Human Genetics · 2011 · 343 citations · Full text

Medicine, Genetics, Pediatrics +13

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

Arturo González‐Quintela, Manuela Alonso‐Sampedro, Luis Vizcaíno et al. · PLoS ONE · 2013 · 214 citations · Full text

Life Sciences, Immunology, Immunogenetics +16

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

Silvia Parajes, Lourdes Loidi, Nicole Reisch et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 112 citations · Full text

Life Sciences, Endocrinology, Genetics +17

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

Marcos Morey, Lidia Castro-Feijóo, Jesús Barreiro et al. · BMC Medical Genetics · 2011 · 91 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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

Silvia Parajes, Celsa Quinteiro, Fernando Domı́nguez et al. · PLoS ONE · 2008 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17