Výsledky vyhledávání - Darya Gorbenko del Blanco
- Zobrazuji výsledky 1 - 6 z 6
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A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis Autor Sara Benito‐Sanz, N. Simon Thomas, Céline Huber, Darya Gorbenko del Blanco, Miriam Aza‐Carmona, John A. Crolla, V.K. Maloney, Jesús Argente, Ángel Campos‐Barros, Valérie Cormier‐Daire, Karen E. Heath
Vydáno 2005Artigo -
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Cardiovascular Benefits of Moderate Exercise Training in Marfan Syndrome: Insights From an Animal Model Autor Aleksandra Mas‐Stachurska, Anna‐Maria Siegert, Montserrat Batlle, Darya Gorbenko del Blanco, Thayna Meirelles, Cira Rubies, Fabio Bonorino, Carla Serra‐Peinado, Bart Bijnens, Julio Baudin, Marta Sitges, Lluı́s Mont, Eduard Guasch, Gustavo Egea
Vydáno 2017Artigo -
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Vascular Smooth Muscle Cell Phenotypic Changes in Patients With Marfan Syndrome Autor Eva Crosas‐Molist, Thayna Meirelles, Judit López‐Luque, Carla Serra‐Peinado, Javier Selva, Laia Caja, Darya Gorbenko del Blanco, Juan J. Uriarte, Esther Bertrán, Yolanda Mendizábal, Vanessa Hernández, Carolina García-Calero, Óscar Busnadiego, Enric Condom, David Toral, Manuel Castellà, Alberto Forteza, Daniel Navajas, Elisabet Sarri, Fernando Rodríguez‐Pascual, Harry C. Dietz, Isabel Fabregat, Gustavo Egea
Vydáno 2015Artigo -
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The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways Autor Marta García, Raquel Barrio, Montserrat García-Lavandeira, Ángela R. Garcia-Rendueles, Adela Escudero, Esther Díaz‐Rodriguez, Darya Gorbenko del Blanco, Ana Fernández, Yolanda B. de Rijke, Elena Vallespín, Julián Nevado, Pablo Lapunzina, Vilborg Matre, Patricia M. Hinkle, Anita C. S. Hokken‐Koelega, María P. De Miguel, José Cameselle‐Teijeiro, Manuel Nistal, Clara V. Álvarez, J.C. Moreno
Vydáno 2017Artigo -
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Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement Autor Yu Sun, Beata Bąk, Nadia Schoenmakers, A.S. Paul van Trotsenburg, Wilma Oostdijk, Peter J. Voshol, Emma L. Cambridge, Jacqueline K. White, Paul Le Tissier, S. Neda Mousavy Gharavy, Juan Pedro Martı́nez-Barberá, Wilhelmina H. Stokvis‐Brantsma, Thomas Vulsma, Marlies Kempers, Luca Persani, Irene Campi, Marco Bonomi, Paolo Beck‐Peccoz, Hongdong Zhu, Timothy M. E. Davis, Anita Hokken-Koelega, Darya Gorbenko del Blanco, Jayanti Rangasami, Claudia Ruivenkamp, Jeroen F. J. Laros, Marjolein Kriek, Sarina G. Kant, Cathy A.J. Bosch, Nienke R. Biermasz, Natasha M. Appelman‐Dijkstra, Eleonora P.M. Corssmit, Guido C. Hovens, Alberto M. Pereira, Johan T. den Dunnen, Michael G. Wade, Martijn H. Breuning, Raoul C. M. Hennekam, Krishna Chatterjee, Mehul Dattani, Jan M. Wit, Daniel J. Bernard
Vydáno 2012Artigo
Vyhledávací nástroje:
Související témata
Biology
Internal medicine
Medicine
Endocrinology
Gene
Hormone
Marfan syndrome
Cardiology
Cell biology
Extracellular matrix
Genetics
Pathology
Pituitary gland
Transforming growth factor
Actin
Anterior pituitary
Biochemistry
Calponin
Central hypothyroidism
Connective tissue
Elastin
Exome sequencing
Fibrillin
Gonadotropic cell
Growth hormone
Haploinsufficiency
Idiopathic short stature
Lung
Meteorology
Mutation