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)
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Characterization of four Latin American families confirms previous findings and reveals novel features of acid‐labile subunit deficiency
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.
Published in Clinical endocrinology (Oxford) (01.09.2017)
Published in Clinical endocrinology (Oxford) (01.09.2017)
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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)
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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)
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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)
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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)
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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 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)
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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)
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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)
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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)
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Journal Article
Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium
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.
Published in The journal of clinical endocrinology and metabolism (01.09.2010)
Published in The journal of clinical endocrinology and metabolism (01.09.2010)
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Journal Article
Deficiency of the insulin-like growth factor-binding protein acid-labile subunit (ALS) of the circulating ternary complex in children with short stature
Domené, Horacio M, Scaglia, Paula A, Jasper, Héctor G
Published in Pediatric endocrinology reviews : PER (01.06.2010)
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Published in Pediatric endocrinology reviews : PER (01.06.2010)
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Estrogen priming effect on growth hormone (GH) provocative test : A useful tool for the diagnosis of GH deficiency
MARTINEZ, Alicia S, DOMENE, Horacio M, ROPELATO, M. Gabriela, JASPER, Héctor G, PENNISI, Patricia A, ESCOBAR, Maria E, HEINRICH, Juan J
Published in The journal of clinical endocrinology and metabolism (01.11.2000)
Published in The journal of clinical endocrinology and metabolism (01.11.2000)
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An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development
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
Published in Human molecular genetics (20.07.2023)
Published in Human molecular genetics (20.07.2023)
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Journal Article
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
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.
Published in Hormone research (01.01.2007)
Published in Hormone research (01.01.2007)
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Journal Article
XX Annual Meeting of the Latin American Society for Pediatric Endocrinology (SLEP) Lima, Peru, October 11-14, 2008
Domené, Horacio M, Longui, Carlos A, Guerra Junior, Gil, Jasper, Héctor G, Lanes, Roberto
Published in Pediatric endocrinology reviews : PER (01.09.2009)
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Published in Pediatric endocrinology reviews : PER (01.09.2009)
Journal Article
Insulin level and insulin sensitivity indices among healthy children and adolescents
Ballerini, María G, Bergadá, Ignacio, Rodríguez, María E, Keselman, Ana, Bengolea, Viviana S, Pipman, Viviana, Domené, Horacio M, Jasper, Héctor G, Ropelato, María G
Published in Archivos argentinos de pediatría (01.08.2016)
Published in Archivos argentinos de pediatría (01.08.2016)
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Journal Article
Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus
Keselman, Ana, Scaglia, Paula A, Rodríguez Prieto, María Soledad, Ballerini, María Gabriela, Rodríguez, María Eugenia, Ropelato, María Gabriela, Bergadá, Ignacio, Jasper, Héctor G, Domené, Horacio M
Published in Arquivos brasileiros de endocrinologia e metabologia (01.11.2012)
Published in Arquivos brasileiros de endocrinologia e metabologia (01.11.2012)
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