检索结果 - Horacio M. Domené
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Acid-labile subunit (ALS) deficiency 由 Horacio M. Domené, Vivian Hwa, Héctor Jasper, Ron G. Rosenfeld
出版 2011Revisão -
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Decreased Hepatic Insulin-Like Growth Factor (IGF)-I and Increased IGF Binding Protein-1 and -2 Gene Expression in Experimental Uremia 由 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
出版 1997Artigo -
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Very early detection of <i>RET</i> proto‐oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children 由 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
出版 2002Artigo -
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Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences 由 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
出版 2009Revisão -
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STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability 由 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
出版 2015Artigo -
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Consenso Latinoamericano: niños pequeños para la edad gestacional 由 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
出版 2012Artigo -
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Latin American Consensus: Children Born Small for Gestational Age 由 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
出版 2011Artigo -
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A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING 由 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
出版 2019Artigo -
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Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency 由 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
出版 2016Artigo -
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Characterization of four Latin American families confirms previous findings and reveals novel features of acid‐labile subunit deficiency 由 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
出版 2017Artigo -
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Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium 由 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
出版 2010Artigo -
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Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low <scp>IGF</scp> ‐I availability 由 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
出版 2016Artigo -
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Serum complexes of insulin‐like growth factor‐1 modulate skeletal integrity and carbohydrate metabolism 由 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
出版 2008Artigo -
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Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations 由 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
出版 2018Artigo
相关主题
Biology
Endocrinology
Gene
Medicine
Internal medicine
Genetics
Growth factor
Mutation
Receptor
Hormone
Insulin-like growth factor
Biochemistry
Growth hormone
Protein subunit
Allele
Compound heterozygosity
Insulin
Chemistry
Germline mutation
Heterozygote advantage
Insulin-like growth factor 2
Insulin-like growth factor-binding protein
Loss of heterozygosity
Molecular biology
Pathology
Pediatrics
Phenotype
Pregnancy
Short stature
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