Response to Letter to the Editor from Lao and Merke: “Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia”
Marino, Roxana, Perez Garrido, Natalia, Ramirez, Pablo, Belgorosky, Alicia
Published in The journal of clinical endocrinology and metabolism (01.07.2021)
Published in The journal of clinical endocrinology and metabolism (01.07.2021)
Get full text
Journal Article
Ehlers–Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia
Marino, Roxana, Garrido, Natalia Perez, Ramirez, Pablo, Notaristéfano, Guillermo, Moresco, Angélica, Touzon, Maria Sol, Vaiani, Elisa, Finkielstain, Gabriela, Obregón, María Gabriela, Balbi, Viviana, Soria, Ianina, Belgorosky, Alicia
Published in The journal of clinical endocrinology and metabolism (01.07.2021)
Published in The journal of clinical endocrinology and metabolism (01.07.2021)
Get full text
Journal Article
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders
Vishnopolska, Sebastian Alexis, Mercogliano, Maria Florencia, Camilletti, Maria Andrea, Mortensen, Amanda Helen, Braslavsky, Debora, Keselman, Ana, Bergadá, Ignacio, Olivieri, Federico, Miranda, Lucas, Marino, Roxana, Ramírez, Pablo, Pérez Garrido, Natalia, Patiño Mejia, Helen, Ciaccio, Marta, Di Palma, Maria Isabel, Belgorosky, Alicia, Martí, Marcelo Adrian, Kitzman, Jacob Otto, Camper, Sally Ann, Pérez-Millán, Maria Ines
Published in The journal of clinical endocrinology and metabolism (01.07.2021)
Published in The journal of clinical endocrinology and metabolism (01.07.2021)
Get full text
Journal Article
Five New Cases of 46,XX Aromatase Deficiency: Clinical Follow-Up From Birth to Puberty, a Novel Mutation, and a Founder Effect
Marino, Roxana, Perez Garrido, Natalia, Costanzo, Mariana, Guercio, Gabriela, Juanes, Matías, Rocco, Carlos, Ramirez, Pablo, Warman, Diana M, Ciaccio, Marta, Pena, Gladys, Feyling, José García, Miras, Mirta, Rivarola, Marco A, Belgorosky, Alicia, Saraco, Nora
Published in The journal of clinical endocrinology and metabolism (01.02.2015)
Published in The journal of clinical endocrinology and metabolism (01.02.2015)
Get full text
Journal Article
Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort
Touzon, Maria Sol, Garrido, Natalia Perez, Marino, Roxana, Ramirez, Pablo, Costanzo, Mariana, Guercio, Gabriela, Berensztein, Esperanza, Rivarola, Marco A., Belgorosky, Alicia
Published in Journal of clinical research in pediatric endocrinology (01.03.2019)
Published in Journal of clinical research in pediatric endocrinology (01.03.2019)
Get full text
Journal Article
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene
Eozenou, Caroline, Gonen, Nitzan, Touzon, Maria Sol, Jorgensen, Anne, Yatsenko, Svetlana A., Fusee, Leila, Kamel, Alaa K., Gellen, Balazs, Guercio, Gabriela, Singh, Priti, Witchel, Selma, Berman, Andrea J., Mainpal, Rana, Totonchi, Mehdi, Meybodi, Anahita Mohseni, Askari, Masomeh, Merel-Chali, Tiphanie, Bignon-Topalovic, Joelle, Migale, Roberta, Costanzo, Mariana, Marino, Roxana, Ramirez, Pablo, Garrido, Natalia Perez, Berensztein, Esperanza, Mekkawy, Mona K., Schimenti, John C., Bertalan, Rita, Mazen, Inas, McElreavey, Ken, Belgorosky, Alicia, Lovell-Badge, Robin, Rajkovic, Aleksandar, Bashamboo, Anu
Published in Proceedings of the National Academy of Sciences - PNAS (16.06.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (16.06.2020)
Get full text
Journal Article
Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome
Marino, Roxana, Moresco, Angélica, Perez Garrido, Natalia, Ramirez, Pablo, Belgorosky, Alicia
Published in Frontiers in endocrinology (Lausanne) (25.02.2022)
Published in Frontiers in endocrinology (Lausanne) (25.02.2022)
Get full text
Journal Article
Gonadal tumor development in 46,XX disorders of gonadal development
Costanzo, Mariana, Touzon, María Sol, Marino, Roxana, Guercio, Gabriela, Ramirez, Pablo, Mattone, María Celeste, Pérez Garrido, Natalia, Bailez, María Marcela, Vaiani, Elisa, Ciaccio, Marta, Galluzzo Mutti, María Laura, Belgorosky, Alicia, Berensztein, Esperanza
Published in European journal of endocrinology (01.09.2022)
Published in European journal of endocrinology (01.09.2022)
Get full text
Journal Article
A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings
Mattone, María Celeste, Lobo de la Vega, María Victoria, Redondo, Emiro J., D’Alessandro, Pablo, Perez Garrido, Natalia, Galluzzo, María Laura, Costanzo, Mariana, Zaidman, Verónica, Lazzati, Juan Manuel, Berensztein, Esperanza, Ramirez, Pablo, Marino, Roxana, Belgorosky, Alicia, Ciaccio, Marta, Bailez, Marcela, Guercio, Gabriela
Published in Sexual development (01.08.2023)
Published in Sexual development (01.08.2023)
Get full text
Journal Article
An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues
Saraco, Nora, Nesi-Franca, Suzana, Sainz, Romina, Marino, Roxana, Marques-Pereira, Rosana, La Pastina, Julia, Perez Garrido, Natalia, Sandrini, Romolo, Rivarola, Marco Aurelio, de Lacerda, Luiz, Belgorosky, Alicia
Published in Hormone research in paediatrics (01.01.2015)
Published in Hormone research in paediatrics (01.01.2015)
Get full text
Journal Article
Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient
Costanzo, Mariana, Garcia-Feyling, José, Saraco, Nora, Marino, Roxana, Pérez Garrido, Natalia, Touzon, Maria Sol, Viterbo, Gisela, Lazzati, Juan Manuel, Patiño, Hellem Carolina, Mattone, Celeste, Maceiras, Mercedes, Belgorosky, Alicia, Guercio, Gabriela
Published in Hormone research in paediatrics (01.01.2018)
Published in Hormone research in paediatrics (01.01.2018)
Get more information
Journal Article
Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty
Aliberti, Paula, Perez Garrido, Natalia, Marino, Roxana, Ramirez, Pablo, Solari, Alberto J., Sciurano, Roberta, Costanzo, Mariana, Guercio, Gabriela, Warman, Diana Mónica, Bailez, Marcela, Baquedano, María Sonia, Rivarola, Marco A, Belgorosky, Alicia, Berensztein, Esperanza
Published in Sexual development (01.01.2017)
Published in Sexual development (01.01.2017)
Get full text
Journal Article
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes
Martinez-Mayer, Julian, Vishnopolska, Sebastian, Perticarari, Catalina, Garcia, Lucia Iglesias, Hackbartt, Martina, Martinez, Marcela, Zaiat, Jonathan, Jacome-Alvarado, Andrea, Braslavsky, Debora, Keselman, Ana, Bergadá, Ignacio, Marino, Roxana, Ramírez, Pablo, Garrido, Natalia Pérez, Ciaccio, Marta, Di Palma, Maria Isabel, Belgorosky, Alicia, Forclaz, Maria Veronica, Benzrihen, Gabriela, D'Amato, Silvia, Cirigliano, Maria Lujan, Miras, Mirta, Nuñez, Alejandra Paez, Castro, Laura, Mallea-Gil, Maria Susana, Ballarino, Carolina, Latorre-Villacorta, Laura, Casiello, Ana Clara, Hernandez, Claudia, Figueroa, Veronica, Alonso, Guillermo, Morin, Analia, Guntsche, Zelmira, Lee, Hane, Lee, Eugene, Song, Yongjun, Marti, Marcelo Adrian, Perez-Millan, Maria Ines
Published in The journal of clinical endocrinology and metabolism (08.05.2024)
Published in The journal of clinical endocrinology and metabolism (08.05.2024)
Get more information
Journal Article
Treatment with TRIAC in pediatric patients with MCT8
Gazek, Natalia, Feller, Ana L, Vaiani, Elisa, Di Palma, Isabel, Savransky, Andrea, Ramírez, Pablo, Marino, Roxana, Pérez Garrido, Natalia, Lazzati, Juan M, Herzovich, Viviana, Dujovne, Noelia
Published in Archivos argentinos de pediatría (01.12.2023)
Published in Archivos argentinos de pediatría (01.12.2023)
Get full text
Journal Article
12279 Molecular Strategy And Genetic Characterization Of A Large Cohort Of Pediatric Patients With Hereditary Hypophosphatemic Rickets: Advantages Of Next Generation Sequencing
Garrido, Natalia Perez, Ramirez, Pablo, Viterbo, Gisela Lorena, del Pino, Mariana, Abbate, Silvina, Saraco, Nora Isabel, Tesan, Fiorella, Ciaccio, Marta, Fano, Virginia, Belgorosky, Alicia, Marino, Roxana
Published in Journal of the Endocrine Society (05.10.2024)
Published in Journal of the Endocrine Society (05.10.2024)
Get full text
Journal Article
THU157 Epigenetic Regulation Of Genes Involved In The Signaling Cascade Of The GH Axis - IGF1 And Insulin. Implication In Children Postnatal Growth
Zoff, Luciana, Garcia, Francisco, Aschettino, Giovanna, Veneruzzo, Gabriel, Mattone, María Celeste, Garrido, Natalia Perez, Juanes, Matías, Saraco, Nora Isabel, Alonso, Cristina, Alonso, Cristina, Guercio, Gabriela, Belgorosky, Alicia, Baquedano, Maria Sonia
Published in Journal of the Endocrine Society (05.10.2023)
Published in Journal of the Endocrine Society (05.10.2023)
Get full text
Journal Article
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia
Marino, Roxana, Ramirez, Pablo, Galeano, Jesica, Perez Garrido, Natalia, Rocco, Carlos, Ciaccio, Marta, Warman, Diana M., Guercio, Gabriela, Chaler, Eduardo, Maceiras, Mercedes, Bergadá, Ignacio, Gryngarten, Mirta, Balbi, Viviana, Pardes, Esther, Rivarola, Marco A., Belgorosky, Alicia
Published in Clinical endocrinology (Oxford) (01.10.2011)
Published in Clinical endocrinology (Oxford) (01.10.2011)
Get full text
Journal Article
DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex
Baquedano, María Sonia, Perez Garrido, Natalia, Goñi, Javier, Saraco, Nora, Aliberti, Paula, Berensztein, Esperanza, Rivarola, Marco A., Belgorosky, Alicia
Published in Molecular and cellular endocrinology (05.02.2017)
Published in Molecular and cellular endocrinology (05.02.2017)
Get full text
Journal Article