Domene, Horacio Mario

PRODUCCION CIENTÍFICO TECNOLÓGICA

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Artículo A Homozygous Mutation in the Highly Conserved Tyr60 of the Mature IGF1 Peptide Broadens the Spectrum of IGF1 Deficiency

Keselman, Ana Claudia; Martin, Ayelen ; Scaglia, Paula Alejandra ; Sanguineti, Nora María ; Armando, Romina; Gutiérrez, Mariana Lilián ; Braslavsky, Debora Giselle ; Ballerini, Maria Gabriela; Ropelato, Maria Gabriela ; Ramirez, Laura Beatriz; Landi, Estefania Maria ; Domene, Sabina ; Castro, Julia ; Cassinelli, Hamilton Raul; Casali, Bárbara María de Los Angeles M; del Rey, Graciela Monica ; Campos-Barros, Angel; Nevado Blanco, Julián; Domene, Horacio Mario ; Jasper, Hector Guillermo ; Arberas, Claudia Liliana; Rey, Rodolfo Alberto ; Lapunzina Badía, Pablo; Bergadá, Ignacio ; Pennisi, Patricia Alejandra (BioScientifica, 2019-09)
Artículo A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI)

Ramírez, Laura; Sanguineti, Nora María ; Scaglia, Paula Alejandra ; Keselman, Ana Claudia; Ballerini, Maria Gabriela; Karabatas, Liliana Margarita ; Landi, Estefania Maria ; Castro, Julia ; Domene, Sabina ; Pennisi, Patricia Alejandra ; Jasper, Hector Guillermo ; Rey, Rodolfo Alberto ; Vázquez, Martín; Domene, Horacio Mario ; Bergadá, Ignacio ; Gutiérrez, Mariana Lilián (Churchill Livingstone, 2020-02)
Artículo 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 Alejandra ; Martinez, Alicia Susana ; Feigerlová, Eva; Bezrodnik, Liliana ; Gaillard, María Isabel; Di Giovanni, Daniela; Ballerini, Maria Gabriela; Jasper, Hector Guillermo ; Heinrich, Juan Jorge; Fang, Peng; Domene, Horacio Mario ; Rosenfeld, Ron G.; Hwa, Vivian (Endocrine Society, 2012-07)
Artículo A recurrent mutation in TSHB gene underlying central congenital hypoyhyroidism undetectable in neonatal screening

Borges, Maria de Fátima; Domene, Horacio Mario ; Scaglia, Paula Alejandra ; Lara, Beatriz Hallal Jorge; Palhares, Heloísa Marcelina da Cunha; Aguiar, Andréia Santos Vasconcelos; Ferreira, Amanda Gonçalves Lacerda; Oliveira, Marília Matos; Marqui, Alessandra Bernadete Trovó de (Sociedade de Pediatria de São Paulo, 2019-06)
Artículo Acid-labile subunit (ALS) deficiency

Domene, Horacio Mario ; Hwa, Vivian; Jasper, Hector Guillermo ; Rosenfeld, Ron G. (Elsevier, 2011-02)
Artículo An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development

Landi, Estefania Maria ; Karabatas, Liliana Margarita ; Rodríguez Gomez, Tomás; Salatino, Lucía ; Scaglia, Paula Alejandra ; Ramirez, Laura Beatriz; Keselman, Ana Claudia; Braslavsky, Debora Giselle ; Sanguineti, Nora María ; Pennisi, Patricia Alejandra ; Rey, Rodolfo Alberto ; Bergadá, Ignacio ; Jasper, Hector Guillermo ; Domene, Horacio Mario ; Plazas, Paola Viviana ; Domene, Sabina (Oxford University Press, 2023-08)
Artículo 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

Domene, Sabina ; Scaglia, Paula Alejandra ; Gutiérrez, Mariana Lilián ; Domene, Horacio Mario (MDPI, 2021-08)
Artículo Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies

Martucci, Lucia Camila ; Gutiérrez, Mariana Lilián ; Karabatas, Liliana Margarita ; Scaglia, Paula Alejandra ; Rey, Rodolfo Alberto ; Domene, Horacio Mario ; Jasper, Hector Guillermo ; Domene, Sabina (Elsevier Ireland, 2016-07)
Artículo Association of serum components of the GH-IGFs-IGFBPs system with GHR-exon 3 polymorphism in normal and idiopathic short stature children

Ballerini, María Gabriela; Domene, Horacio Mario ; Scaglia, Paula Alejandra ; Martinez, Alicia Susana ; Keselman, Ana; Jasper, Hector Guillermo ; Ropelato, María Gabriela (Elsevier, 2013-12)
Artículo Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency

Scaglia, Paula Alejandra ; Keselman, Ana Claudia; Braslavsky, Debora Giselle; Martucci, Lucia Camila ; Karabatas, Liliana Margarita ; Domene, Sabina ; Gutiérrez, Mariana Lilián ; Ballerini, Maria Gabriela; Ropelato, Maria Gabriela ; Spinola Castro, Angela; Siviero Miachon, Adriana A.; Tartuci, Juliana Saito; Rodríguez Azrak, María Sol; Rey, Rodolfo Alberto ; Jasper, Hector Guillermo ; Bergadá, Ignacio ; Domene, Horacio Mario (Wiley Blackwell Publishing, Inc, 2017-09)
Artículo 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

Ballerini, Maria Gabriela; Braslavsky, Debora Giselle; Scaglia, Paula Alejandra ; Keselman, Ana Claudia; Rodriguez, Maria Eugenia; Martinez, Alicia Susana ; Freire, Analía Verónica; Domene, Horacio Mario ; Jasper, Hector Guillermo ; Bergadá, Ignacio ; Ropelato, Maria Gabriela (Karger, 2017-03)
Artículo Concentración de insulina e índices de insulinosensibilidad en niños y adolescentes sanos

Ballerini, Maria Gabriela; Bergadá, Ignacio ; Rodríguez, María E.; Keselman, Ana Claudia; Bengolea, Viviana S.; Pipman, Viviana; Domene, Horacio Mario ; Jasper, Hector Guillermo ; Ropelato, Maria Gabriela (Sociedad Argentina de Pediatría, 2016-08)
Artículo Deficiency of the Insulin-Like Growth Factor-Binding Protein Acid-Labile Subunit (ALS) of the Circulating Ternary Complex in Children with Short Stature

Domene, Horacio Mario ; Scaglia, Paula Alejandra ; Jasper, Hector Guillermo (Y. S. Medical Media Ltd., 2010-06)
Artículo Expression of acid-labile subunit (ALS) in developing and adult zebrafish and its role in dorso-ventral patterning during development

Landi, Estefania Maria ; Karabatas, Liliana Margarita ; Scaglia, Paula Alejandra ; Pisciottano, Francisco ; Gutiérrez, Mariana Lilián ; Ramírez, Laura; Bergadá, Ignacio ; Rey, Rodolfo Alberto ; Jasper, Hector Guillermo ; Domene, Horacio Mario ; Plazas, Paola Viviana ; Domene, Sabina (Academic Press Inc Elsevier Science, 2020-12)
Artículo Genetic analysis of short children with apparent growth hormone insensitivity

Wit, J. M.; Van Duyvenvoorde, H. A.; Scheltinga, S. A.; De Bruin, S.; Hafkenscheid, L.; Kant, S. G.; Ruivenkamp, C. A. L.; Gijsbers, A. C. J.; Van Doorn, J.; Feigerlova, E.; Noordam, C.; Walenkamp, M. J.; Claahsen-Van De Grinten, H.; Stouthart, P.; Bonapart, I. E.; Pereira, A. M.; Gosen, J.; Delemarre-Van De Waal, H.A.; Hwa, V.; Breuning, M.H.; Domene, Horacio Mario ; Oostdijk, W.; Losekoot, M. (Karger, 2012-06)
Artículo Genetic disorders of GH action pathway

Domene, Horacio Mario ; Fierro Carrión, Gustavo (Churchill Livingstone, 2018-02)
Artículo Genetic Mutations in the GH/IGF Axis

Domene, Sabina ; Domene, Horacio Mario (Medical Media, 2018-09)
Artículo Genotyping IGFBP3 Gene Polymorphism Improves the Diagnostic Efficiency of IGFBP-3 Measurements in the Differential Diagnosis between Growth Hormone Deficiency and Idiopathic Short Stature

Domene, Horacio Mario ; Scaglia, Paula Alejandra ; Martinez, Alicia Susana ; Keselman, Ana Claudia; Pipman, Viviana; Bengolea, Viviana; Karabatas, Liliana Margarita ; Ropelato, Maria Gabriela ; Ballerini, Maria Gabriela; Heinrich, Juan Jorge; Jasper, Hector Guillermo (Karger, 2011-07)
Artículo Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System

Domene, Horacio Mario ; Scaglia, Paula Alejandra ; Martinez, Alicia Susana ; Keselman, Ana C.; Karabatas, Liliana Margarita ; Pipman, Viviana R.; Bengolea, Sonia V.; Guida, María Clara ; Ropelato, María G.; Ballerini, María G.; Lescano, Eva M.; Blanco, Miguel A.; Heinrich, Juan J.; Rey, Rodolfo Alberto ; Jasper, Hector Guillermo (Karger, 2013-12)
Artículo Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences

Domene, Horacio Mario ; Hwa, Vivian; Argente, Jesús; Wit, Jan M.; Camacho Hübner, Cecilia; Jasper, Hector Guillermo ; Pozo, Jesús; van Duyvenvoorde, Hermine; Yakar, Shoshana; Fofanova-Gambetti, Olga V.; Rosenfeld, Ron G. (Karger, 2009-12)

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