Antonio Pérez Aytés

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

Lesley McGregor, Ville Makela, S. M. Darling et al. · Nature Genetics · 2003 · 258 citations

Life Sciences, Genetics, Molecular Genetics +14

In utero exposure to mycophenolate mofetil: A characteristic phenotype?

Antonio Pérez Aytés, Ana da Silva Lédo, Virginia Bosó et al. · American Journal of Medical Genetics Part A · 2007 · 167 citations

Medicine, Otolaryngology, Pediatrics +17

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

Shalini Jadeja, Ian Smyth, Jolanta E. Pitera et al. · Nature Genetics · 2005 · 164 citations

Life Sciences, Genetics, Molecular Genetics +9

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz et al. · Human Molecular Genetics · 2014 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development

Laura Audí, Mónica Fernández‐Cancio, Antonio Carrascosa et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 147 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17