Publications by authors named "Elisa Vaiani"

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Clinical Impact of Genetic Alterations in Pediatric Papillary Thyroid Carcinoma: A Next-Generation Sequencing Study from Argentina.
Noelia Dujovne, Natalia Gazek, Elisa Vaiani, Pablo Ramirez, Natalia Perez Garrido

Horm Res Paediatr· November 2025

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A novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile.
Maria Natalia Rojas Velazquez, Jimena Lopez Dacal, Flemming S Jørgensen, Nora Sanguineti, Katyayani Sharma, Elisa Vaiani

J Clin Endocrinol Metab· November 2025

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Generation of an iPSC line from congenital hypopituitarism patient with a nonsense heterozygous variant in FOXA2.
María Andrea Camilletti, Chirino Felker Gonzalo Tomás, Castañeda Sheila, Zabalegui Federico, Amin Guadalupe, Vaiani Elisa

Stem Cell Res· September 2025

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Characterization of a cohort of patients with hypercalcemia in a tertiary pediatric hospital.
Ana Feller, Mariana Aziz, Silvia Gil, Marta Ciaccio, Elisa Vaiani

Arch Argent Pediatr· December 2024

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Treatment with TRIAC in pediatric patients with MCT8.
Natalia Gazek, Ana L Feller, Elisa Vaiani, Isabel Di Palma, Andrea Savransky

Arch Argent Pediatr· December 2023

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Gonadal tumor development in 46,XX disorders of gonadal development.
Mariana Costanzo, María Sol Touzon, Roxana Marino, Gabriela Guercio, Pablo Ramirez, Elisa Vaiani

Eur J Endocrinol· September 2022

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Paediatric Langerhans Cell Histiocytosis Disease: Long-Term Sequelae in the Hypothalamic Endocrine System.
Elisa Vaiani, Guido Felizzia, Fabiana Lubieniecki, Jorge Braier, Alicia Belgorosky

Horm Res Paediatr· December 2021

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Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia.
Roxana Marino, Natalia Perez Garrido, Pablo Ramirez, Guillermo Notaristéfano, Angélica Moresco, Elisa Vaiani

J Clin Endocrinol Metab· June 2021

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The Low-Dose ACTH Test: Usefulness of Combined Analysis of Serum and Salivary Maximum Cortisol Response in Pediatrics.
Elisa Vaiani, Juan Manuel Lazzati, Pablo Ramirez, Mariana Costanzo, Silvia Gil

J Clin Endocrinol Metab· October 2019

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[Atypical presentation of a giant prolactinoma in a 15-year-old boy].
Elisa Vaiani, Cintia Morales, Florencia Soto, Yeny Blanco, Carlos Rugilo

Arch Argent Pediatr· April 2018

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Predictor Variables of Developing Anterior Pituitary Deficiencies in a Group of Paediatric Patients with Central Diabetes Insipidus and Langerhans Cell Histiocytosis.
Elisa Vaiani, Carmen Malossetti, Lina Margarita Vega, Pedro Zubizarreta, Jorge Braier

Horm Res Paediatr· April 2017

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Central adrenal insufficiency could not be confirmed by measurement of basal serum DHEAS levels in pubertal children.
Elisa Vaiani, Mercedes Maceiras, Eduardo Chaler, Juan Manuel Lazzati, Monica Chiavero

Horm Res Paediatr· July 2015

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[Novel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia].
María Sonia Baquedano, Gabriela Guercio, Roxana Marino, Esperanza Berensztein, Mariana Costanzo, Elisa Vaiani

Medicina (B Aires)· June 2014

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Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia.
María Sonia Baquedano, Gabriela Guercio, Roxana Marino, Esperanza Berensztein, Mariana Costanzo, Elisa Vaiani

J Clin Endocrinol Metab· January 2013

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Effectiveness of rhGH treatment on final height of renal-transplant recipients in childhood.
Silvia Gil, Elisa Vaiani, Gabriela Guercio, Marta Ciaccio, Amalia Turconi

Pediatr Nephrol· June 2012

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Thyroid axis dysfunction in patients with Prader-Willi syndrome during the first 2 years of life.
Elisa Vaiani, Viviana Herzovich, Eduardo Chaler, Lilien Chertkoff, Marco A Rivarola

Clin Endocrinol (Oxf)· October 2010

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Treatment results in patients with retinoblastoma and invasion to the cut end of the optic nerve.
Guillermo L Chantada, Myriam R Guitter, Adriana C Fandiño, Elsa C Raslawski, Maria T G de Davila, Elisa Vaiani

Pediatr Blood Cancer· February 2009

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[Exon 5 alternative splicing of the cytochrome P450 aromatase could be a regulatory mechanism for estrogen production in humans].
Carolina M Pepe, Nora I Saraco, María Sonia Baquedano, Gabriela Guercio, Elisa Vaiani

Medicina (B Aires)· September 2008

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The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.
Carolina M Pepe, Nora I Saraco, Maria Sonia Baquedano, Gabriela Guercio, Elisa Vaiani

Clin Endocrinol (Oxf)· November 2007

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[Evolution of children one year post liver transplant].
Miriam Cuarterolo, Mirta Ciocca, Susana López, Guillermo Cervio, Luis Rojas, Elisa Vaiani

Medicina (B Aires)· April 2006

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Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene.
Alicia Belgorosky, Carolina Pepe, Roxana Marino, Gabriela Guercio, Nora Saraco, Elisa Vaiani

J Clin Endocrinol Metab· November 2003

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Hypothalamic-pituitary-testicular function in prepubertal children with chronic liver disease.
Elisa Vaiani, Mirta Ciocca, Miriam Cuarterolo, Oscar Imventarza, Marco A Rivarola

J Pediatr Endocrinol Metab· March 2002

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