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Nora Sanguineti

Observed names: Nora Maria Sanguineti, Nora María Sanguineti, Nora Sanguinetti, Sanguineti N, Sanguineti, Nora María
ORCID: 0000-0002-6380-9742
Observed ORCID: 0000-0002-6380-9742
OpenAlex ID: A5089188459
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations
2018 · Mariana Gutiérrez, Paula Scaglia, et al. · Molecular and Cellular Endocrinology · 52
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A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency
2019 · Ana Claudia Keselman, Ayelen Martin, et al. · European Journal of Endocrinology · 19
p.R209H GH1 variant challenges short stature assessment
2019 · Nora Sanguineti, Debora Braslavsky, et al. · Growth Hormone & IGF Research · 12
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A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI)
2019 · Laura Ramírez, Nora Sanguineti, et al. · Growth Hormone & IGF Research · 11
Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome
2024 · Lourdes Correa Brito, Ana Keselman, et al. · Frontiers in Genetics · 6
A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile
2025 · Maria Natalia Rojas Velazquez, Jimena Lopez Dacal, et al. · The Journal of Clinical Endocrinology & Metabolism · 2
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An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development
2023 · Estefanía Landi, Liliana Karabatas, et al. · Human Molecular Genetics · 2
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Síndrome de osteoporosis-pseudoglioma: a propósito de un caso pediátrico de osteoporosis primaria
2020 · Débora Braslavsky, Paula Scaglia, et al. · Conicet · 1
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations
2018 · Gutiérrez M, Scaglia P, et al. · Yearbook of pediatric endocrinology · 1
THU211 Novel SIN3A Loss-Of-Function Variant As Potentially Pathogenic For Hypogonadotropic Hypogonadism In Witteveen-Kolk Syndrome
2023 · Lourdes Magdalena Correa Brito, Ana Claudia Keselman, et al. · Journal of the Endocrine Society
Potentially Pathogenic Variants Identified by Next- Generation Sequencing in Patients With Short Stature of Unknown Origin
2021 · Nora Sanguineti, Paula Scaglia, et al.
Síndrome de osteoporosis-pseudoglioma: a propósito de un caso pediátrico de osteoporosis primaria
2020 · Débora Braslavsky, Paula Scaglia, et al. · Archivos Argentinos de Pediatria
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MON-716 A Novel Human Heterozygous STAT5B Variant Leads to Impaired Growth and Developmental Defects in Zebrafish Embryos
2020 · Estefania Landi, Liliana Karabatas, et al. · Journal of the Endocrine Society
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SUN-245 Heterozygous GH1 p.R209H Variant within a Large Pedigree May Mimic a Growth Hormone Insensitivity Pattern
2019 · Nora Sanguineti, Paula Scaglia, et al. · Journal of the Endocrine Society
Monogenic and Digenic Gene Mutations are Present in Children with Idiopathic Short Stature (ISS)
2018 · Nora Sanguineti, Laura Ramírez, et al. · 57th Annual ESPE
Novel LRP5 Loss-of-function Mutation Causes Osteoporosis-pseudoglioma Syndrome
2018 · Débora Braslavsky, Paula Scaglia, et al. · ESPE Abstracts
Functional in vitro Characterization of Two Novel Germinal STAT3 Mutations Associated with Short Stature, Immunodeficiency and Autoimmune Disease
2016 · Mariana Gutiérrez, Paula Scaglia, et al. · 55th Annual ESPE
Severe IGF1 Deficiency and Multi-Organ Autoimmune Disease Associated with Novel Germline STAT3 Mutations
2015 · Paula Scaglia, Ana Keselman, et al. · 54th Annual ESPE
GnRH Infusion in Females with Hypogonadotropic Hypogonadism
2015 · Analía V. Freire, Andrea Arcari, et al. · 54th Annual ESPE
Works count: 21
Citation count: 106
H-index: 5
I10-index: 4
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