Elisa Vaiani

B, Argentina

Last Updated: 09/26/2026

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Found 15 publications

Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss.

Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss.

Journal: Human mutation

Published: January 02, 2026

A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.

A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 10, 2025

A novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile.

A novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 10, 2025

Clinical Impact of Genetic Alterations in Pediatric Papillary Thyroid Carcinoma: A Next-Generation Sequencing Study from Argentina.

Clinical Impact of Genetic Alterations in Pediatric Papillary Thyroid Carcinoma: A Next-Generation Sequencing Study from Argentina.

Journal: Hormone research in paediatrics

Published: January 27, 2025

Characterization of a cohort of patients with hypercalcemia in a tertiary pediatric hospital.

Characterization of a cohort of patients with hypercalcemia in a tertiary pediatric hospital.

Journal: Archivos argentinos de pediatria

Published: August 05, 2024

Treatment with TRIAC in pediatric patients with MCT8.

Treatment with TRIAC in pediatric patients with MCT8.

Journal: Archivos argentinos de pediatria

Published: March 08, 2023

Gonadal tumor development in 46,XX disorders of gonadal development.

Gonadal tumor development in 46,XX disorders of gonadal development.

Journal: European journal of endocrinology

Published: March 30, 2022

Paediatric Langerhans Cell Histiocytosis Disease: Long-Term Sequelae in the Hypothalamic Endocrine System.

Paediatric Langerhans Cell Histiocytosis Disease: Long-Term Sequelae in the Hypothalamic Endocrine System.

Journal: Hormone research in paediatrics

Published: February 16, 2021

Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.

Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 16, 2020

The Low-Dose ACTH Test: Usefulness of Combined Analysis of Serum and Salivary Maximum Cortisol Response in Pediatrics.

The Low-Dose ACTH Test: Usefulness of Combined Analysis of Serum and Salivary Maximum Cortisol Response in Pediatrics.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 06, 2019

Atypical presentation of a giant prolactinoma in a 15-year-old boy

Atypical presentation of a giant prolactinoma in a 15-year-old boy

Journal: Archivos argentinos de pediatria

Published: August 03, 2017

Predictor Variables of Developing Anterior Pituitary Deficiencies in a Group of Paediatric Patients with Central Diabetes Insipidus and Langerhans Cell Histiocytosis.

Predictor Variables of Developing Anterior Pituitary Deficiencies in a Group of Paediatric Patients with Central Diabetes Insipidus and Langerhans Cell Histiocytosis.

Journal: Hormone research in paediatrics

Published: August 16, 2016

Showing 1-12 of 15

Last Updated: 09/26/2026