Antonio F Martinez Monseny
Ayudante de investigación
The researcher Antonio Martinez-Monseny graduated in Medicine in 2010 from the University of Valencia, finalized his MIR in Pediatrics in 2015 and is currently finalizing his Doctorate from the University of Barcelona.
In 2014, he visited the Boston Children's Hospital, where he attended and participated in the clinical consultations of Clinical Genetics, Metabolic and Genetic Counseling, and at the Hospital la Fe in Valencia participating in the work of the Genetics laboratory.
In 2015, he joined the Department of Clinical Genetics for the Service of Molecular and Genetic Medicine and the Pediatric Institute for Minority Illnesses (IPER) of the Hospital Sant Joan de Déu. He collaborates on the rarecommons.org platform of the same Hospital.
- Pascual-Alonso A, Martinez-Monseny T, Xiol-Viñas C and Armstrong-Moron J MECP2-Related Disorders in Males. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(17): .
- Alamar AM, Candela S, Flor-Goikoetxea A, Salvador-Hernandez H, Martinez-Monseny T, Muchart-Lopez J and Hinojosa J Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature. CHILDS NERVOUS SYSTEM . 37(8): 2441-2449.
- Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny T, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT, Genomics England Research Consortium, Webster AR, Studer M and Yu-Wai-Man P Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model. brain communications . 3(3): fcab162.
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.