Mercedes Serrano Gimaré
Investigador
Research group
Professional network profiles
Last Publications
- Vega-Hanna L, Sanz-Cuesta M, Casas-Alba D, Bolasell M, Martorell-Sampol L, Pias-Peleteiro LD, Lucia FA, Martinez-Monseny T and Serrano M Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study Frontiers in pediatrics . 11: 1184529-1184529.
- Amato, ME, Ricart S, Vicente-Villa MA, Martorell-Sampol L, Armstrong-Moron J, Fernandez-Isern G, Mascaro, JM, Balsells S, Alonso, I, Serrano M and Ortigoza-Escobar JD Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report clinical case reports . 11(4): .
- Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls, H, Martinez-Cabrera, R, Prat-Planas, A, Rojano, E, Ranea, JAG, Seoane, P, Oliva-Mussara C, Paredes-Fuentes, AJ, Marfany G, Artuch-Iriberri R, Grinberg-Vaisman DR, Rabionet-Janssen R, Balcells S and Urreizti R Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. JOURNAL OF MEDICAL GENETICS . 60(4): 406-415.
Projects
- Project name:
- Contratos predoctorales de formación en investigación en salud_Beneficiari: Flor Epifani
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- Instituto de Salud Carlos III (ISCIII)
- Code
- FI22/00218
- Starting - finishing date:
- 2023 - 2026
- Project name:
- Early Treatment for children with mental health problems and Genetic Abnormalities through a Parenting intervention (The GAP): a pragmatic randomized controlled trial
- Leader
- Laia Villalta Maciá
- Funding entities:
- Fundació La Marató de TV3, Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD
- Code
- 202236-10
- Starting - finishing date:
- 2023 - 2026
- Project name:
- Autism Innovative Medicine Studies – 2 – Trials’ —‘AIMS-2-TRIALS’
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- King's College London
- Code
- 777394
- Starting - finishing date:
- 2023 - 2025
News
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First clinical guideline on Schaaf-Yang syndrome for professionals and families
Improving knowledge of the Schaaf-Yang syndrome (SYS) -an ultrarare disease caused by mutations in the MAGEL2 gene- is the aim of the first clinical guideline aimed at healthcare professionals and families of children affected by this pathology.
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Professionals at Sant Joan de Déu make it easier for doctors around the world to diagnose a rare disease
They analysed the most remarkable traits of children suffering from PMM2-CDG and designed an app that uses a photograph of the patient's face to suggest a diagnosis.