Ángeles Pié

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Linkage of the Human Inducible Nitric Oxide Synthase Gene to Type 1 Diabetes¹

Jesper Johannesen, Ángeles Pié, Flemming Pociot et al. · The Journal of Clinical Endocrinology & Metabolism · 2001 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway

Beatriz Puisac, Mónica Ramos, María Arnedo et al. · Molecular Biology Reports · 2011 · 32 citations

Life Sciences, Biochemistry, Molecular Biology +11

Ten novel<i>HMGCL</i>mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria

Sebastián Menao, Eduardo López‐Viñas, Cecilia Mir et al. · Human Mutation · 2009 · 27 citations

Life Sciences, Genetics, Molecular Genetics +16

Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM Barrel model of HL

Beatriz Puisac, Eduardo López‐Viñas, Susana Elisa Moreno et al. · Biophysical Chemistry · 2005 · 11 citations

Life Sciences, Genetics, Molecular Biology +14