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

ανά 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
Τόπος έκδοσης PLoS One (2015)

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

ανά 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.
Τόπος έκδοσης J Clin Endocrinol Metab (2014)

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

ανά 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
Τόπος έκδοσης J Endocr Soc (2020)

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

ανά 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.
Έκδοση 2014

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

ανά 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
Τόπος έκδοσης J Endocr Soc (2019)

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...

ανά 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
Τόπος έκδοσης J Endocr Soc (2019)

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

ανά 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.
Τόπος έκδοσης 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

ανά 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.
Τόπος έκδοσης Front Endocrinol (Lausanne) (2021)

p.R209H GH1 variant challenges short stature assessment

ανά 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
Τόπος έκδοσης Growth Horm IGF Res (2019)

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

ανά 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
Τόπος έκδοσης Neuroendocrinology (2016)

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

ανά 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
Έκδοση 2012

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

ανά 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
Τόπος έκδοσης 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

ανά 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
Τόπος έκδοσης J Endocr Soc (2021)

Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders

ανά 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
Τόπος έκδοσης J Clin Endocrinol Metab (2021)

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

ανά Prasad, Rathi, Hadjidemetriou, Irene, Maharaj, Avinaash, Meimaridou, Eirini, Buonocore, Federica, Saleem, Moin, Hurcombe, Jenny, Bierzynska, Agnieszka, Barbagelata, Eliana, Bergadá, Ignacio, Cassinelli, Hamilton, Das, Urmi, Krone, Ruth, Hacihamdioglu, Bulent, Sari, Erkan, Yesilkaya, Ediz, Storr, Helen L., Clemente, Maria, Fernandez-Cancio, Monica, Camats, Nuria, Ram, Nanik, Achermann, John C., Van Veldhoven, Paul P., Guasti, Leonardo, Braslavsky, Debora, Guran, Tulay, Metherell, Louise A.
Τόπος έκδοσης J Clin Invest (2017)