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

Por 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
Publicado no PLoS One (2015)

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

Por 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.
Publicado no J Clin Endocrinol Metab (2014)

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

Por 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.
Publicado em 2014

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

Por 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
Publicado no Neuroendocrinology (2016)

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

Por 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
Publicado em 2012

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

Por 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.
Publicado no J Clin Invest (2017)