Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance
Giacomozzi, Claudio, Martin, Ayelen, Fernández, María Celia, Gutiérrez, Mariana, Iascone, Maria, Domené, Horacio M, Dominici, Fernando P, Bergadá, Ignacio, Cangiano, Biagio, Persani, Luca, Pennisi, Patricia A
Published in The journal of clinical endocrinology and metabolism (01.06.2023)
Published in The journal of clinical endocrinology and metabolism (01.06.2023)
Get full text
Journal Article
Physiology of GH action and associated human disorders
Domené, Horacio M., Wit, Jan M., Frank, Stuart J.
Published in Molecular and cellular endocrinology (15.01.2021)
Published in Molecular and cellular endocrinology (15.01.2021)
Get full text
Journal Article
Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability
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
Published in EMBO molecular medicine (01.04.2016)
Published in EMBO molecular medicine (01.04.2016)
Get full text
Journal Article
Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency
Muñoz-Calvo, María T, Barrios, Vicente, Pozo, Jesús, Chowen, Julie A, Martos-Moreno, Gabriel Á, Hawkins, Federico, Dauber, Andrew, Domené, Horacio M, Yakar, Shoshana, Rosenfeld, Ron G, Pérez-Jurado, Luis A, Oxvig, Claus, Frystyk, Jan, Argente, Jesús
Published in The journal of clinical endocrinology and metabolism (01.11.2016)
Published in The journal of clinical endocrinology and metabolism (01.11.2016)
Get full text
Journal Article
Basal Follicle-Stimulating Hormone and Peak Gonadotropin Levels after Gonadotropin-Releasing Hormone Infusion Show High Diagnostic Accuracy in Boys with Suspicion of Hypogonadotropic Hypogonadism
Grinspon, Romina P, Ropelato, María Gabriela, Gottlieb, Silvia, Keselman, Ana, Martínez, Alicia, Ballerini, María Gabriela, Domené, Horacio M, Rey, Rodolfo A
Published in The journal of clinical endocrinology and metabolism (01.06.2010)
Published in The journal of clinical endocrinology and metabolism (01.06.2010)
Get full text
Journal Article
Applying Bioinformatic Platforms, In Vitro, and In Vivo Functional Assays in the Characterization of Genetic Variants in the GH/IGF Pathway Affecting Growth and Development
Domené, Sabina, Scaglia, Paula A., Gutiérrez, Mariana L., Domené, Horacio M.
Published in Cells (Basel, Switzerland) (12.08.2021)
Published in Cells (Basel, Switzerland) (12.08.2021)
Get full text
Journal Article
Acid-labile subunit (ALS) deficiency
Domené, Horacio M, Hwa, Vivian, Jasper, Héctor G, Rosenfeld, Ron G
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.02.2011)
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.02.2011)
Get full text
Journal Article
STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability
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
Published in European journal of endocrinology (01.09.2015)
Published in European journal of endocrinology (01.09.2015)
Get full text
Journal Article
Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies
Martucci, Lucía C., Gutiérrez, Mariana L., Karabatas, Liliana M., Scaglia, Paula A., Rey, Rodolfo A., Domené, Horacio M., Jasper, Héctor G., Domené, Sabina
Published in Molecular and cellular endocrinology (05.07.2016)
Published in Molecular and cellular endocrinology (05.07.2016)
Get full text
Journal Article
Phenotypic Effects of Null and Haploinsufficiency of Acid-Labile Subunit in a Family with Two Novel IGFALS Gene Mutations
Domené, Horacio M, Scaglia, Paula A, Lteif, Aida, Mahmud, Farid H, Kirmani, Salman, Frystyk, Jan, Bedecarrás, Patricia, Gutiérrez, Mariana, Jasper, Héctor G
Published in The journal of clinical endocrinology and metabolism (01.11.2007)
Published in The journal of clinical endocrinology and metabolism (01.11.2007)
Get full text
Journal Article
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 of Pulmonary Disease
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
Published in The journal of clinical endocrinology and metabolism (01.05.2012)
Published in The journal of clinical endocrinology and metabolism (01.05.2012)
Get full text
Journal Article
p.R209H GH1 variant challenges short stature assessment
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., Pérez Millán, Maria I., Camper, Sally A., Bergadá, Ignacio
Published in Growth hormone & IGF research (01.02.2020)
Published in Growth hormone & IGF research (01.02.2020)
Get full text
Journal Article
Same Phenotype in Children with Growth Hormone Deficiency and Resistance
Domené, Horacio M., Meazza, C., Guarracino, Carmen, Ioimo, Irene, Bozzola, Mauro
Published in Case reports in pediatrics (01.01.2018)
Published in Case reports in pediatrics (01.01.2018)
Get full text
Journal Article
Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences
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.
Published in Hormone research (01.01.2009)
Published in Hormone research (01.01.2009)
Get full text
Journal Article
Deficiency of the Circulating Insulin-like Growth Factor System Associated with Inactivation of the Acid-Labile Subunit Gene
Domené, Horacio M, Bengolea, Sonia V, Martínez, Alicia S, Ropelato, M. Gabriela, Pennisi, Patricia, Scaglia, Paula, Heinrich, Juan J, Jasper, Héctor G
Published in The New England journal of medicine (05.02.2004)
Published in The New England journal of medicine (05.02.2004)
Get full text
Journal Article
Latin American consensus: children born small for gestational age
Boguszewski, Margaret C S, 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
Published in BMC pediatrics (19.07.2011)
Published in BMC pediatrics (19.07.2011)
Get full text
Journal Article
Novel Acid-Labile Subunit (IGFALS) Mutation p.T145K (c.434C>A) in a Patient with ALS Deficiency, Normal Stature and Immunological Dysfunction
Schreiner, Felix, Schoenberger, Stefan, Koester, Bernhard, Domené, Horacio M., Woelfle, Joachim
Published in Hormone research in paediatrics (01.01.2013)
Published in Hormone research in paediatrics (01.01.2013)
Get full text
Journal Article
Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System
Domené, Horacio M., Scaglia, Paula A., Martínez, Alicia S., Keselman, Ana C., Karabatas, Liliana M., Pipman, Viviana R., Bengolea, Sonia V., Guida, María C., Ropelato, María G., Ballerini, María G., Lescano, Eva M., Blanco, Miguel A., Heinrich, Juan J., Rey, Rodolfo A., Jasper, Héctor G.
Published in Hormone research in paediatrics (01.01.2013)
Published in Hormone research in paediatrics (01.01.2013)
Get full text
Journal Article