Výsledky vyhledávání - Horacio M. Domené

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  1. 1
    Acid-labile subunit (ALS) deficiency

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

    Vydáno 2011
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  2. 2
    Estrogen Priming Effect on Growth Hormone (GH) Provocative Test: A Useful Tool for the Diagnosis of GH Deficiency1

    Estrogen Priming Effect on Growth Hormone (GH) Provocative Test: A Useful Tool for the Diagnosis of GH Deficiency1 Autor Alicia S. Martínez, Horacio M. Domené, María Gabriela Ropelato, Héctor Jasper, P. Pennisi, María Eugenia Escobar, Juan J. Heinrich

    Vydáno 2000
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  3. 3
    Deficiency of the Circulating Insulin-like Growth Factor System Associated with Inactivation of the Acid-Labile Subunit Gene

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

    Vydáno 2004
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  4. 4
    Decreased Hepatic Insulin-Like Growth Factor (IGF)-I and Increased IGF Binding Protein-1 and -2 Gene Expression in Experimental Uremia

    Decreased Hepatic Insulin-Like Growth Factor (IGF)-I and Increased IGF Binding Protein-1 and -2 Gene Expression in Experimental Uremia Autor Burkhard Tönshoff, D.R. Powell, Dongling Zhao, Susan K. Durham, Michael Coleman, Horacio M. Domené, Werner Blum, Robert C. Baxter, Leon C. Moore, Frederick J. Kaskel

    Vydáno 1997
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  5. 5
    Very early detection of <i>RET</i> proto‐oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children

    Very early detection of <i>RET</i> proto‐oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children Autor Gabriela Sansó, Horacio M. Domené, María Cecilia García Rudaz, Eduardo Pusiol, Ana K. de Mondino, María Roqué, Alejandro H. Ring, H Perinetti, Boris Elsner, S Iorcansky, Marta Barontini

    Vydáno 2002
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  6. 6
    Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences

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

    Vydáno 2009
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  7. 7
    STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability

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

    Vydáno 2015
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  8. 8
    Consenso Latinoamericano: niños pequeños para la edad gestacional

    Consenso Latinoamericano: niños pequeños para la edad gestacional Autor Margaret CS Boguszewski, Verónica Merico, Ignacio Bergadá, Durval Damiani, Alicia Belgorosky, Peter González, Teresa Ortíz, Mauricio Llano, Horacio M. Domené, Raúl Calzada‐León, Armando Blanco, Margarita Barrientos‐Pérez, Patricio Prócel, Roberto Lanes, O Jaramillo

    Vydáno 2012
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  9. 9
    Latin American Consensus: Children Born Small for Gestational Age

    Latin American Consensus: Children Born Small for Gestational Age Autor Margaret CS Boguszewski, Verónica Mericq, Ignacio Bergadá, Durval Damiani, Alicia Belgorosky, Peter Günczler, Teresa Ortíz, Mauricio Llano, Horacio M. Domené, Raúl Calzada‐León, Armando Blanco, Margarita Barrientos‐Pérez, Patricio Prócel, Roberto Lanes, O Jaramillo

    Vydáno 2011
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  10. 10
    A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING

    A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING Autor Maria de Fátima Borges, Horacio M. Domené, Paula Scaglia, Beatriz Hallal Jorge Lara, Heloísa Marcelina da Cunha Palhares, Andréia Vasconcelos Aguiar Santos, Amanda Lacerda Ferreira Gonçalves, Marília Matos Oliveira, Alessandra Bernadete Trovó de Marqui

    Vydáno 2019
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  11. 11
    Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency

    Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency Autor M.T. Muñoz-Calvo, Vicente Barrios, Jesús Pozo, Julie A. Chowen, Gabriel Ángel Martos‐Moreno, Federico Hawkins, Andrew Dauber, Horacio M. Domené, Shoshana Yakar, Ron G. Rosenfeld, Luis A. Pérez‐Jurado, Claus Oxvig, Jan Frystyk, Jesús Argente

    Vydáno 2016
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  12. 12
    Characterization of four Latin American families confirms previous findings and reveals novel features of acid‐labile subunit deficiency

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

    Vydáno 2017
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  13. 13
    Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium

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

    Vydáno 2010
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  14. 14
    Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low <scp>IGF</scp> ‐I availability

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

    Vydáno 2016
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  15. 15
    Serum complexes of insulin‐like growth factor‐1 modulate skeletal integrity and carbohydrate metabolism

    Serum complexes of insulin‐like growth factor‐1 modulate skeletal integrity and carbohydrate metabolism Autor Shoshana Yakar, Clifford J. Rosen, Mary Bouxsein, Hui Sun, Wilson Mejía, Y. Kawashima, Yingjie Wu, Kelly Brook Emerton, Valerie Williams, Karl J. Jepsen, Mitchell B. Schaffler, Robert J. Majeska, Oksana Gavrilova, Mariana Gutiérrez, David Hwang, P. Pennisi, Jan Frystyk, Yves R. Boisclair, John E. Pintar, Héctor Jasper, Horacio M. Domené, Pinchas Cohen, David R. Clemmons, Derek LeRoith

    Vydáno 2008
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  16. 16
    Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

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

    Vydáno 2018
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