Publications by authors named "Maria Sol Touzon"

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46,XX Testicular/Ovotesticular Disorders of Sexual Development: A Single-Center Retrospective Experience.
Mariana Costanzo, María Celeste Mattone, Roxana Marino, Esperanza Berensztein, María Sol Touzón

Sex Dev· December 2025

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Rapid Electroclinical Evolution in HECW2-Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission.
Sergio Melgarejo, Gabriela Reyes Valenzuela, Matías Juanes, Maria Sol Touzon, Carol Suyo

Int J Dev Neurosci· August 2025

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De novo absence status epilepticus associated with the SLC6A1 gene in a pediatric patient.
Roberto H Caraballo, Santiago Chacón, Maria Sol Touzon, Mariana Loos, Matías Juanes

Epileptic Disord· April 2024

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Biochemical profiling study in umbilical cord blood in mothers with metabolic disorders.
Silvina Ema Cocucci, María Beatriz Di Carlo, María Sol Touzón, Mirtha Gabriela Santacruz, Sandra Noemi Payalef

J Matern Fetal Neonatal Med· December 2022

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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

Eur J Endocrinol· September 2022

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Modeling primary ovarian insufficiency-associated loci in C. elegans identifies novel pathogenic allele of MSH5.
Nicolas Macaisne, Maria Sol Touzon, Aleksander Rajkovic, Judith L Yanowitz

J Assist Reprod Genet· June 2022

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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, Maria Sol Touzon

J Clin Endocrinol Metab· June 2021

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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 () gene.
Caroline Eozenou, Nitzan Gonen, Maria Sol Touzon, Anne Jorgensen, Svetlana A Yatsenko

Proc Natl Acad Sci U S A· June 2020

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Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient.
Mariana Costanzo, José Garcia-Feyling, Nora Saraco, Roxana Marino, Natalia Pérez Garrido, Maria Sol Touzon

Horm Res Paediatr· April 2019

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Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort.
Maria Sol Touzon, Natalia Perez Garrido, Roxana Marino, Pablo Ramirez, Mariana Costanzo

J Clin Res Pediatr Endocrinol· February 2019

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Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region.
Pankaj Dangle, María Sol Touzon, Miguel Reyes-Múgica, Selma F Witchel, Aleksandar Rajkovic

J Med Genet· October 2017

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Optimization of Trichomonas vaginalis Diagnosis during Pregnancy at a University Hospital, Argentina.
Pamela Testardini, María Lucía Gallo Vaulet, Andrea Carolina Entrocassi, Claudia Menghi, Martha Cora Eliseht

Korean J Parasitol· April 2016

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