Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies von Martucci, Lucía C., Gutiérrez, Mariana L., Karabatas, Liliana M., Scaglia, Paula A., Rey, Rodolfo A., Domené, Horacio M., Jasper, Héctor G., Domené, Sabina

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An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development von Landi, Estefanía, Karabatas, Liliana, Rodríguez Gomez, Tomás, Salatino, Lucía, Scaglia, Paula, Ramírez, Laura, Keselman, Ana, Braslavsky, Débora, Sanguineti, Nora, Pennisi, Patricia, Rey, Rodolfo A, Bergadá, Ignacio, Jasper, Héctor G, Domené, Horacio M, Plazas, Paola V, Domené, Sabina

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Acid-labile subunit (ALS) deficiency von Domené, Horacio M, Hwa, Vivian, Jasper, Héctor G, Rosenfeld, Ron G

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STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability von Scalco, Renata C, Hwa, Vivian, Domené, Horacio M, Jasper, Héctor G, Belgorosky, Alicia, Marino, Roxana, Pereira, Alberto M, Tonelli, Carlos A, Wit, Jan M, Rosenfeld, Ron G, Jorge, Alexander A L

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A Novel Missense Mutation in the SH2 Domain of the STAT5B Gene Results in a Transcriptionally Inactive STAT5b Associated with Severe IGF-I Deficiency, Immune Dysfunction, and Lack... von Scaglia, Paula A, Martínez, Alicia S, Feigerlová, Eva, Bezrodnik, Liliana, Gaillard, María Isabel, Di Giovanni, Daniela, Ballerini, María Gabriela, Jasper, Héctor G, Heinrich, Juan J, Fang, Peng, Domené, Horacio M, Rosenfeld, Ron G, Hwa, Vivian

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Phenotypic Effects of Null and Haploinsufficiency of Acid-Labile Subunit in a Family with Two Novel IGFALS Gene Mutations von Domené, Horacio M., Scaglia, Paula A., Lteif, Aida, Mahmud, Farid H., Kirmani, Salman, Frystyk, Jan, Bedecarrás, Patricia, Gutiérrez, Mariana, Jasper, Héctor G.

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Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development von Landi, Estefanía, Karabatas, Liliana, Scaglia, Paula, Pisciottano, Francisco, Gutiérrez, Mariana, Ramírez, Laura, Bergadá, Ignacio, Rey, Rodolfo A., Jasper, Héctor Guillermo, Domené, Horacio Mario, Plazas, Paola Viviana, Domené, Sabina

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Deficiency of the Circulating Insulin-like Growth Factor System Associated with Inactivation of the Acid-Labile Subunit Gene von Domené, Horacio M, Bengolea, Sonia V, Martínez, Alicia S, Ropelato, M. Gabriela, Pennisi, Patricia, Scaglia, Paula, Heinrich, Juan J, Jasper, Héctor G

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Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences von Domené, Horacio M., Hwa, Vivian, Argente, Jesús, Wit, Jan M., Camacho-Hübner, Cecilia, Jasper, Héctor G., Pozo, Jesús, van Duyvenvoorde, Hermine A., Yakar, Shoshana, Fofanova-Gambetti, Olga V., Rosenfeld, Ron G.

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Circulating IGF-I, IGFBP-3 and the IGF-I/IGFBP-3 Molar Ratio Concentration and Height Outcome in Prepubertal Short Children on rhGH Treatment over Two Years of Therapy von Ballerini, María Gabriela, Braslavsky, Débora, Scaglia, Paula Alejandra, Keselman, Ana, Rodríguez, María Eugenia, Martínez, Alicia, Freire, Analía Verónica, Domené, Horacio Mario, Jasper, Héctor Guillermo, Bergadá, Ignacio, Ropelato, María Gabriela

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Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium von Fofanova-Gambetti, Olga V., Hwa, Vivian, Wit, Jan M., Domene, Horacio M., Argente, Jesús, Bang, Peter, Högler, Wolfgang, Kirsch, Susan, Pihoker, Catherine, Chiu, Harvey K., Cohen, Laurie, Jacobsen, Christina, Jasper, Hector G., Haeusler, Gabriele, Campos-Barros, Angel, Gallego-Gómez, Elena, Gracia-Bouthelier, Ricardo, van Duyvenvoorde, Hermine A., Pozo, Jesús, Rosenfeld, Ron G.

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Past, Present, and Future in the Relationship between Growth Retardation and the IGF System: Excerpts from the Cesar Bergada Lecture Given during the SLEP 2015 Annual Meeting von Jasper, Héctor

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Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability von Dauber, Andrew, Muñoz‐Calvo, María T, Barrios, Vicente, Domené, Horacio M, Kloverpris, Soren, Serra‐Juhé, Clara, Desikan, Vardhini, Pozo, Jesús, Muzumdar, Radhika, Martos‐Moreno, Gabriel Á, Hawkins, Federico, Jasper, Héctor G, Conover, Cheryl A, Frystyk, Jan, Yakar, Shoshana, Hwa, Vivian, Chowen, Julie A, Oxvig, Claus, Rosenfeld, Ron G, Pérez‐Jurado, Luis A, Argente, Jesús

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Insulin level and insulin sensitivity indices among healthy children and adolescents von Ballerini, María G, Bergadá, Ignacio, Rodríguez, María E, Keselman, Ana, Bengolea, Viviana S, Pipman, Viviana, Domené, Horacio M, Jasper, Héctor G, Ropelato, María G

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A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency von Keselman, Ana Claudia, Martin, Ayelen, Scaglia, Paula Alejandra, Sanguineti, Nora María, Armando, Romina, Gutiérrez, Mariana, Braslavsky, Débora, Ballerini, María Gabriela, Ropelato, María Gabriela, Ramirez, Laura, Landi, Estefanía, Domené, Sabina, Castro, Julia F, Cassinelli, Hamilton, Casali, Bárbara, del Rey, Graciela, Barros, Ángel Campos, Nevado Blanco, Julián, Domené, Horacio, Jasper, Héctor, Arberas, Claudia, Rey, Rodolfo A, Lapunzina-Badía, Pablo, Bergadá, Ignacio, Pennisi, Patricia A

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Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations von Gutiérrez, Mariana, Scaglia, Paula, Keselman, Ana, Martucci, Lucía, Karabatas, Liliana, Domené, Sabina, Martin, Ayelen, Pennisi, Patricia, Blanco, Miguel, Sanguineti, Nora, Bezrodnik, Liliana, Di Giovanni, Daniela, Caldirola, María Soledad, Azcoiti, María Esnaola, Gaillard, María Isabel, Denson, Lee A., Zhang, Kejian, Husami, Ammar, Yayah Jones, Nana-Hawa, Hwa, Vivian, Revale, Santiago, Vázquez, Martín, Jasper, Héctor, Kumar, Ashish, Domené, Horacio

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Characterization of four Latin American families confirms previous findings and reveals novel features of acid‐labile subunit deficiency von Scaglia, Paula A., Keselman, Ana C., Braslavsky, Débora, Martucci, Lucía C., Karabatas, Liliana M., Domené, Sabina, Gutiérrez, Mariana L., Ballerini, María G., Ropelato, María G., Spinola‐Castro, Angela, Siviero‐Miachon, Adriana A., Tartuci, Juliana Saito, Rodríguez Azrak, María Sol, Rey, Rodolfo A., Jasper, Héctor G., Bergadá, Ignacio, Domené, Horacio M.

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Unbound (bioavailable) IGF1 enhances somatic growth von Elis, Sebastien, Wu, Yingjie, Courtland, Hayden-William, Cannata, Dara, Sun, Hui, Beth-On, Mordechay, Liu, Chengyu, Jasper, Hector, Domené, Horacio, Karabatas, Liliana, Guida, Clara, Basta-Pljakic, Jelena, Cardoso, Luis, Rosen, Clifford J, Frystyk, Jan, Yakar, Shoshana

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Serum complexes of insulin-like growth factor-1 modulate skeletal integrity and carbohydrate metabolism von Yakar, Shoshana, Rosen, Clifford J, Bouxsein, Mary L, Sun, Hui, Mejia, Wilson, Kawashima, Yuki, Wu, Yingjie, Emerton, Kelly, Williams, Valerie, Jepsen, Karl, Schaffler, Mitchell B, Majeska, Robert J, Gavrilova, Oksana, Gutierrez, Mariana, Hwang, David, Pennisi, Patricia, Frystyk, Jan, Boisclair, Yves, Pintar, John, Jasper, Héctor, Domene, Horacio, Cohen, Pinchas, Clemmons, David, LeRoith, Derek

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Normal Growth Spurt and Final Height despite Low Levels of All Forms of Circulating Insulin-Like Growth Factor-I in a Patient with Acid-Labile Subunit Deficiency von Domené, Horacio M., Martínez, Alicia S., Frystyk, Jan, Bengolea, Sonia V., Ropelato, María G., Scaglia, Paula A., Chen, Jian-Wen, Heuck, Carsten, Wolthers, Ole D., Heinrich, Juan J., Jasper, Héctor G.

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