Inherited Human XY Sex Reversal and Gonadal Neoplasia Due to Enhanced Formation of Non-Specific Enhanceosomes by an Architectural Transcription Factor

por Chen, Yen-Shan, Racca, Joseph D, Belgorosky, Alicia, Weiss, Michael Aaron
Publicado 2021

Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome

por Marino, Roxana, Moresco, Angélica, Perez Garrido, Natalia, Ramirez, Pablo, Belgorosky, Alicia
Publicado 2022

SAT-202 ERRγ1 Might Regulate Aromatase mRNA Variant Expression in Human Placental Tissues from Term Deliveries of Large for Gestational Age (LGA) Newborns Deliveries

por Palligas, Marcos, Nemer, Cristina, Cannizzaro, Claudia, Baquedano, Maria, Belgorosky, Alicia, Saraco, Nora
Publicado 2019

SUN-210 Differentially Expressed Mirnas in Zona Reticularis (ZR) Cells of the Human Adrenal Cortex

por Garcia, Francisco, Colman, Diego, Zoff, Luciana, Saraco, Nora Isabel, Belgorosky, Alicia, Baquedano, Maria Sonia
Publicado 2020

Estrogens in Human Male Gonadotropin Secretion and Testicular Physiology From Infancy to Late Puberty

por Guercio, Gabriela, Saraco, Nora, Costanzo, Mariana, Marino, Roxana, Ramirez, Pablo, Berensztein, Esperanza, Rivarola, Marco A., Belgorosky, Alicia
Publicado 2020

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

por Touzon, Maria Sol, Garrido, Natalia Perez, Marino, Roxana, Ramirez, Pablo, Costanzo, Mariana, Guercio, Gabriela, Berensztein, Esperanza, Rivarola, Marco A., Belgorosky, Alicia
Publicado 2019

SAT-093 Two Cases of Autosomal Dominant Familial Central Diabetes Insipidus: A Novel Variant in Neurophysin II Region of AVP Gene

por Ramirez, Biochemist, Pablo, Vaiani, Elisa, Marino, Biochemist, Roxana Marcela, Perez-Garrido, Biochemist, Natalia Isabel, Morales, Cintia, Rubio, Betty, Rivarola, Marco A, Belgorosky, Alicia
Publicado 2020

SAT-069 Advantages of Next Generation Sequencing (NGS) in Hypophosphatemic Disorders Diagnosis. First Case of SLC9A3R1 Gene Pathogenic Variant Detected in a Pediatric Patient

por Ramirez, Biochemist, Pablo, Palma, Isabel Di, Viterbo, Gisela, Perez-Garrido, Biochemist, Natalia Isabel, Pujana, Biochemist, Matias, Juanes, Matias, Belgorosky, Alicia, Marino, Roxana Marcela
Publicado 2020

GH deficiency status combined with GH receptor polymorphism affects response to GH in children

por Valsesia, Armand, Chatelain, Pierre, Stevens, Adam, Peterkova, Valentina A, Belgorosky, Alicia, Maghnie, Mohamad, Antoniazzi, Franco, Koledova, Ekaterina, Wojcik, Jerome, Farmer, Pierre, Destenaves, Benoit, Clayton, Peter
Publicado 2015

SUN-212 Differences of Sex Development Patients: Characterization of Histological Findings and Immunohistochemistry Markers in 46,Xx Gonads During Early Childhood.

por Touzon, Maria Sol, Galluzzo Mutti, Maria Laura, Ramirez, Pablo, Perez Garrido, Natalia, Marino, Roxana, Bailez, Marcela, Costanzo, Mariana, Guercio, Gabriela, Vaiani, Elisa, Ciaccio, Marta, Belgorosky, Alicia, Berensztein, Esperanza
Publicado 2019

SAT-LB051 Longitudinal Growth in Height and Changes in Body Proportions in Children with Hereditary Hypophosphatemic Rickets in a Single Center

por Viterbo, Gisela, Del Pino, Maria Sol, Arenas, Maria Alejandra, Marino, Roxana, Perez Garrido, Natalia, Pujana, Matias, Ramirez, Pablo, De Dona, Valeria, Guercio, Gabriela, Vaiani, Elisa, Fano, Victoria, Belgorosky, Alicia
Publicado 2019

THU157 Epigenetic Regulation Of Genes Involved In The Signaling Cascade Of The GH Axis - IGF1 And Insulin. Implication In Children Postnatal Growth

por 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
Publicado 2023

SUN-047 Germline and Somatic Mutations in DICER1 Gene Associated with Different Hereditary Tumours in Paediatric Patients

por Trobo, Sofia, Ramirez, Pablo, Perez- Garrido, Natalia, Touzon, Maria, Vaiani, Elisa, Costanzo, Mariana, Herzovich, Viviana, Moresco, Angela, Dujovne, Noelia, Lubieniecki, Fabiana, Galeano, Jesica, Chantada, Guillermo, Obregon, Maria Gabriela, Belgorosky, Alicia, Marino, Roxana
Publicado 2019

Latin American Consensus: Children Born Small for Gestational Age

por Boguszewski, Margaret CS, Mericq, Veronica, Bergada, Ignacio, Damiani, Durval, Belgorosky, Alicia, Gunczler, Peter, Ortiz, Teresa, Llano, Mauricio, Domené, Horacio M, Calzada-León, Raúl, Blanco, Armando, Barrientos, Margarita, Procel, Patricio, Lanes, Roberto, Jaramillo, Orlando
Publicado 2011

MON-472 Potentially Pathogenic Variants Identified in Patients with Hypopituitarism by Molecular Inversion Probe Sequencing (MIPS), a New Molecular Approach for Low Cost Gene Panel...

por Vishnopolska, Sebastian, Mortensen, Amanda, Braslavsky, Debora, Keselman, Ana, Bergada, Ignacio, Marino, Roxana, Ramirez, Pablo, Perez Garrido, Natalia, Ciaccio, Marta, Di Palma, María, Belgorosky, Alicia, Marti, Marcelo, Kitzman, Jacob, Camper, Sally, Perez Millan, Maria
Publicado 2019

SUN-712 Familial 46, XY Complete Female External Sex Development with a Non-Mosaic Inherited SRY Gene Variation

por Vaiani, Elisa, Chen, Yen-Shan, Ramirez, Pablo, Baquedano, Maria Sonia, Malosetti, Maria del carmen, Racca, Joseph, Touzon, Maria Sol, Marino, Roxana, Costanzo, Mariana, Bailez, Marcela, Berensztein, Esperanza, Galuzzo, Laura, Weiss, Michael Aaron, Belgorosky, Alicia
Publicado 2020

MON-717 Novel GLI2 Mutations Identified in Pediatric Patients with Combined Pituitary Hormone Deficiency: One Gene, Various Genotypes

por Vishnopolska, Sebastian A, Braslavsky, Debora, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana M, Ramirez, Pablo C, Natalia, Perez Garrido, Ciaccio, Marta, Palma, María I Di, Belgorosky, Alicia, Miras, Mirta, Nicola, Juan P, Mortensen, Amanda Helen, Martí, Marcelo A, Camper, Sally Ann, Kitzman, Jacob, Perez Millán, Maria I
Publicado 2020

Gene expression signatures predict response to therapy with growth hormone

por Stevens, Adam, Murray, Philip, De Leonibus, Chiara, Garner, Terence, Koledova, Ekaterina, Ambler, Geoffrey, Kapelari, Klaus, Binder, Gerhard, Maghnie, Mohamad, Zucchini, Stefano, Bashnina, Elena, Skorodok, Julia, Yeste, Diego, Belgorosky, Alicia, Siguero, Juan-Pedro Lopez, Coutant, Regis, Vangsøy-Hansen, Eirik, Hagenäs, Lars, Dahlgren, Jovanna, Deal, Cheri, Chatelain, Pierre, Clayton, Peter
Publicado 2021

Novel Pathogenic Variants in LHX3, LHX4 and GLI2 Identified in Pediatric Patients With Congenital Hypopituitarism: From Variant Calling To Variant Testing

por Vishnopolska, Sebastian, Mercogliano, María Florencia, Camilletti, Maria Andrea, Mortensen, Amanda Helen, Braslavsky, Debora Giselle, Keselman, Ana Claudia, Bergada, Ignacio, Marino, Roxana Marcela, Ramirez, Pablo, Garrido, Natalia Perez, Ciaccio, Marta, Di Palma, María Isabel, Belgorosky, Alicia, Miras, Mirta, Nicola, Juan Pablo, Marti, Marcelo, Kitzman, Jacob, Camper, Sally Ann, Perez-Millan, Maria Ines
Publicado 2021

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

por 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, Mohseni Meybodi, Anahita, Askari, Masomeh, Merel-Chali, Tiphanie, Bignon-Topalovic, Joelle, Migale, Roberta, Costanzo, Mariana, Marino, Roxana, Ramirez, Pablo, Perez Garrido, Natalia, Berensztein, Esperanza, Mekkawy, Mona K., Schimenti, John C., Bertalan, Rita, Mazen, Inas, McElreavey, Ken, Belgorosky, Alicia, Lovell-Badge, Robin, Rajkovic, Aleksandar, Bashamboo, Anu
Publicado 2020