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Maria Clemente Leon

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.

123 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, Nuria Camats Tarruella, Mónica Fernández Cancio

Projects

Estudio de costes y calidad de vida relacionada con la salud en pacientes pediátricos con Diabetes Mellitus Tipo I en España (CHRYSTAL)

IP: Maria Clemente Leon
Collaborators: -
Funding agency:
Funding:
Reference: PR(AMI)27/2014
Duration: -

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: Antonio Carrascosa Lezcano
Collaborators: Maria Clemente Leon
Funding agency: Instituto de Salud Carlos III
Funding: 148830
Reference: PI07/0145
Duration: 01/01/2008 - 30/12/2011

Marcadores moleculares de la acción de los andrógenos: aplicaciones básicas al conocimiento de la regulación de la diferenciación sexual y diagnósticas en el pseudohermafroditismo masculino

IP: -
Collaborators: Maria Clemente Leon, Diego Yeste Fernandez, Mónica Fernández Cancio
Funding agency: Instituto de Salud Carlos III
Funding: 125840
Reference: PI060903
Duration: 01/01/2007 - 31/12/2010

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