Antonio Pérez Aytés
Instituto de Investigación Sanitaria La Fe(ES)
Publications by Year
Research Areas
Ethics and bioethics in healthcare, Connective tissue disorders research, Genomics and Rare Diseases, Genetic Syndromes and Imprinting, Child and Adolescent Health
Most-Cited Works
- → Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein(2003)257 cited
- → In utero exposure to mycophenolate mofetil: A characteristic phenotype?(2007)165 cited
- → Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs(2005)164 cited
- → Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance(2014)148 cited
- → Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development(2010)145 cited
- → The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia(2012)109 cited