Maria Clemente Leon Institutions of which they are part Growth and Development Vall Hebron Institut de Recerca Email Maria Clemente Leon Email Institutions of which they are part Growth and Development Vall Hebron Institut de Recerca
Research lines Endocrine pediatric rare diseases: Disorders of sex development (DSD), growth delay, thyroid dyshormonogenesis, familial isolated glucocorticoid deficiency and congenital hyperinsulinism. 4.1 Disorders of sex development (DSD): clinical and molecular diagnosis. We analyse known genes involved in human sexual differentiation and search for new genes. 4.2 Program of molecular diagnosis of thyroid dyshormonogenesis in patients with hypothyroidism which have been diagnosed at the newborn screening program. The objective of this project is to advance in the identification and characterization of the molecular basis of the patients with thyroid dyshormonogenesis through the implementation of next generation sequencing techniques (NGS) to later translate these results to the routine diagnosis of the detected patients in the program of Neonatal Screening of Congenital Hypothyroidism. Our group is reference centre for Catalonia. 4.3 Familial isolated glucocorticoid deficiency: clinical and molecular diagnosis. We analyse known genes involved in familial isolated glucocorticoid deficiency and search for new genes. 4.4 Congenital hyperinsulinism: clinical and molecular diagnosis. We analyse known genes involved in congenital hyperinsulinism and search for new genes. IP: Diego Yeste Fernandez, Maria Clemente Leon, Monica Fernandez Cancio Projects Creixement i Desenvolupament IP: Antonio Moreno Galdó Collaborators: Maria Clemente Leon, Diego Yeste Fernandez, Félix Castillo Salinas, Monica Fernandez Cancio, Inés de Mir Messa, Ariadna Campos Martorell, Sandra Rovira Amigo, Alba Torrent Vernetta, Ana Díez Izquierdo, Noelia Baz Redón, SILVIA GARTNER TIZZANO Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 0.01 Reference: 2021 SGR 00779 Duration: 01/01/2022 - 30/06/2025 Endocrinologia Pediàtrica (GRC) IP: - Collaborators: Maria Clemente Leon, Diego Yeste Fernandez, Monica Fernandez Cancio, Ariadna Campos Martorell Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: Reference: 2014 SGR 1302 Duration: 01/01/2014 - 31/12/2017 Fisiopatologia del Creixement IP: - Collaborators: Maria Clemente Leon, Diego Yeste Fernandez, Monica Fernandez Cancio Funding agency: Agència Gestió Ajuts Universitaris i de Recerca Funding: 47840 Reference: 2009 SGR 31 Duration: 01/01/2010 - 30/04/2014 Estudio funcional de nuevas mutaciones en el gen GH1 en una población de 728 pacientes con retraso crónico de crecimiento secundario a deficiencia de GH o a GH con actividad biológica disminuida y buena respuesta clínica al tratamiento con GH IP: - Collaborators: Maria Clemente Leon Funding agency: Instituto de Salud Carlos III Funding: 148830 Reference: PI07/0145 Duration: 01/01/2008 - 30/12/2011 Pagination Current page 1 Page 2 Next page › Last page »
