Paula Scaglia

Deficiency of the Circulating Insulin-like Growth Factor System Associated with Inactivation of the Acid-Labile Subunit Gene

Horacio M. Domené, Sonia V. Bengolea, Alicia S. Martínez et al. · New England Journal of Medicine · 2004 · 243 citations · Full text

Life Sciences, Endocrinology, Molecular Biology +16

Phenotypic Effects of Null and Haploinsufficiency of Acid-Labile Subunit in a Family with Two Novel<i>IGFALS</i>Gene Mutations

Horacio M. Domené, Paula Scaglia, Aida Lteif et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

Mariana Gutiérrez, Paula Scaglia, Ana Keselman et al. · Molecular and Cellular Endocrinology · 2018 · 54 citations · Full text

Medicine, Genetics, Molecular Genetics +14

A Novel Missense Mutation in the SH2 Domain of the<i>STAT5B</i>Gene Results in a Transcriptionally Inactive STAT5b Associated with Severe IGF-I Deficiency, Immune Dysfunction, and Lack of Pulmonary Disease

Paula Scaglia, Alicia S. Martínez, Eva Feigerlová et al. · The Journal of Clinical Endocrinology & Metabolism · 2012 · 43 citations · Full text

Life Sciences, Genetics, Immunology +16

Normal Growth Spurt and Final Height despite Low Levels of All Forms of Circulating Insulin-Like Growth Factor-I in a Patient with Acid-Labile Subunit Deficiency

Horacio M. Domené, Alicia S. Martínez, Jan Frystyk et al. · Hormone Research in Paediatrics · 2007 · 43 citations

Medicine, Biochemistry, Endocrinology +15