Male Hypogonadism and Disorders of Sex Development

بواسطة Grinspon, Romina P., Bergadá, Ignacio, Rey, Rodolfo A.
الحاوية / القاعدة Front Endocrinol (Lausanne) (2020)

SUN-345 Use of Anti-FGF23 Monoclonal Antibody in the Treatment of Children and Adolescents with X-Linked Hypophosphatemic Rickets

بواسطة Cassinelli, Hamilton Raul, Brenzoni, Luciana, Alconcher, Laura, Forclaz, Veronica, D′Amato, Silvia, Rozenfeld, Paula, Bergada, Ignacio
الحاوية / القاعدة J Endocr Soc (2020)

Male Central Precocious Puberty: Serum Profile of Anti-Müllerian Hormone and Inhibin B before, during, and after Treatment with GnRH Analogue

بواسطة Grinspon, Romina P., Andreone, Luz, Bedecarrás, Patricia, Ropelato, María Gabriela, Rey, Rodolfo A., Campo, Stella M., Bergadá, Ignacio
منشور في 2013

Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency

بواسطة Jullien, Nicolas, Romanet, Pauline, Philippon, Mélanie, Quentien, Marie-Hélène, Beck-Peccoz, Paolo, Bergada, Ignacio, Odent, Sylvie, Reynaud, Rachel, Barlier, Anne, Saveanu, Alexandru, Brue, Thierry, Castinetti, Frederic
الحاوية / القاعدة Eur J Hum Genet (2018)

Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue

بواسطة Rochette, Claire, Jullien, Nicolas, Saveanu, Alexandru, Caldagues, Emmanuelle, Bergada, Ignacio, Braslavsky, Debora, Pfeifer, Marija, Reynaud, Rachel, Herman, Jean-Paul, Barlier, Anne, Brue, Thierry, Enjalbert, Alain, Castinetti, Frederic
الحاوية / القاعدة PLoS One (2015)

Exome Sequencing Identifies a Novel Homozygous Mutation in the Phosphate Transporter SLC34A1 in Hypophosphatemia and Nephrocalcinosis

بواسطة Rajagopal, Abbhirami, Braslavsky, Débora, Lu, James T., Kleppe, Soledad, Clément, Florencia, Cassinelli, Hamilton, Liu, David S., Liern, Jose Miguel, Vallejo, Graciela, Bergadá, Ignacio, Gibbs, Richard A., Campeau, Phillipe M., Lee, Brendan H.
الحاوية / القاعدة J Clin Endocrinol Metab (2014)

MON-716 A Novel Human Heterozygous STAT5B Variant Leads to Impaired Growth and Developmental Defects in Zebrafish Embryos

بواسطة Landi, Estefania, Karabatas, Liliana, Ramirez, Laura, Gutierrez, Mariana, Scaglia, Paula Alejandra, Keselman, Ana Claudia, Braslavsky, Debora, Sanguineti, Nora, Bergada, Ignacio, Jasper, Hector Guillermo, Domene, Horacio M, Plazas, Paola, Domene, Sabina
الحاوية / القاعدة J Endocr Soc (2020)

Spreading the Clinical Window for Diagnosing Fetal-Onset Hypogonadism in Boys

بواسطة Grinspon, Romina P., Loreti, Nazareth, Braslavsky, Débora, Valeri, Clara, Schteingart, Helena, Ballerini, María Gabriela, Bedecarrás, Patricia, Ambao, Verónica, Gottlieb, Silvia, Ropelato, María Gabriela, Bergadá, Ignacio, Campo, Stella M., Rey, Rodolfo A.
منشور في 2014

SUN-245 Heterozygous GH1 p.R209H Variant within a Large Pedigree May Mimic a Growth Hormone Insensitivity Pattern

بواسطة Sanguineti, Nora, Scaglia, Paula, Braslavsky, Debora, Keselman, Ana, Ballerini, Maria, Ropelato, Maria, Suco, Sofia, Kitzman, Jacob, Vishnopolska, Sebastian, Marti, Marcelo, Domene, Horacio, Rey, Rodolfo, Perez-Millan, Maria, Camper, Sally, Bergadá, Ignacio
الحاوية / القاعدة J Endocr Soc (2019)

Latin American Consensus: Children Born Small for Gestational Age

بواسطة 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
منشور في 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...

بواسطة 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
الحاوية / القاعدة J Endocr Soc (2019)

An eHealth Framework for Managing Pediatric Growth Disorders and Growth Hormone Therapy

بواسطة Dimitri, Paul, Fernandez-Luque, Luis, Banerjee, Indraneel, Bergadá, Ignacio, Calliari, Luis Eduardo, Dahlgren, Jovanna, de Arriba, Antonio, Lapatto, Risto, Reinehr, Thomas, Senniappan, Senthil, Thomas-Teinturier, Cécile, Tsai, Meng-Che, Anuar Zaini, Azriyanti, Bagha, Merat, Koledova, Ekaterina
الحاوية / القاعدة J Med Internet Res (2021)

Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism

بواسطة Pérez Millán, María I., Vishnopolska, Sebastian A., Daly, Alexandre Z., Bustamante, Juan P., Seilicovich, Adriana, Bergadá, Ignacio, Braslavsky, Débora, Keselman, Ana C., Lemons, Rosemary M., Mortensen, Amanda H., Marti, Marcelo A., Camper, Sally A., Kitzman, Jacob O.
الحاوية / القاعدة Mol Genet Genomic Med (2018)

Development and Validation of a Prediction Rule for Growth Hormone Deficiency Without Need for Pharmacological Stimulation Tests in Children With Risk Factors

بواسطة Clément, Florencia, Grinspon, Romina P., Yankelevich, Daniel, Martín Benítez, Sabrina, De La Ossa Salgado, María Carolina, Ropelato, María Gabriela, Ballerini, María Gabriela, Keselman, Ana C., Braslavsky, Débora, Pennisi, Patricia, Bergadá, Ignacio, Finkielstain, Gabriela P., Rey, Rodolfo A.
الحاوية / القاعدة Front Endocrinol (Lausanne) (2021)

p.R209H GH1 variant challenges short stature assessment

بواسطة Sanguineti, Nora, Braslavsky, Debora, Scaglia, Paula A, Keselman, Ana, Ballerini, Maria G, Ropelato, Maria G, Suco, Sofia, Vishnopolska, Sebastian, Berenstein, Ariel J, Jasper, Héctor, Domené, Horacio M, Rey, Rodolfo A, Millán, Maria I Pérez, Camper, Sally A, Bergadá, Ignacio
الحاوية / القاعدة Growth Horm IGF Res (2019)

High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic

بواسطة Bessa, Danielle S., Macedo, Delanie B., Brito, Vinicius N., França, Monica M., Montenegro, Luciana R., Cunha-Silva, Marina, Silveira, Leticia G., Hummel, Tiago, Bergadá, Ignacio, Braslavsky, Debora, Abreu, Ana Paula, Dauber, Andrew, Mendonca, Berenice B., Kaiser, Ursula B., Latronico, Ana Claudia
الحاوية / القاعدة Neuroendocrinology (2016)

Mutations in the PCNA-binding domain of CDKN1C cause IMAGE Syndrome

بواسطة Arboleda, Valerie A., Lee, Hane, Parnaik, Rahul, Fleming, Alice, Banerjee, Abhik, Ferraz-de-Souza, Bruno, Délot, Emmanuèle C., Rodriguez-Fernandez, Imilce A., Braslavsky, Debora, Bergadá, Ignacio, Dell’Angelica, Esteban C., Nelson, Stanley F., Martinez-Agosto, Julian A., Achermann, John C., Vilain, Eric
منشور في 2012

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

بواسطة 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
الحاوية / القاعدة J Endocr Soc (2020)

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

بواسطة 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
الحاوية / القاعدة J Endocr Soc (2021)

Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders

بواسطة 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
الحاوية / القاعدة J Clin Endocrinol Metab (2021)