Atilano Carcavilla

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

Dan Hanson, Philip Murray, Tessa Coulson et al. · Journal of Molecular Endocrinology · 2012 · 57 citations · Full text

Management guidelines for disorders/different sex development (DSD)

J. Guerrero-Fernández, Cristina Azcona, Jesús Barreiro Conde et al. · Anales de Pediatría (English Edition) · 2018 · 50 citations · Full text

Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy

Begoña Ezquieta, José L. Santomé, Atilano Carcavilla et al. · Revista Española de Cardiología (English Edition) · 2012 · 24 citations

Mendelian Disorder, Ras-mapk Genes, Genetic Disorder +10

Noonan syndrome: genetic and clinical update and treatment options

Atilano Carcavilla, Larisa Suárez-Ortega, Amparo Rodríguez Sánchez et al. · Anales de Pediatría (English Edition) · 2020 · 24 citations · Full text

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

Lucia Sentchordi, Sara Benito‐Sanz, Miriam Aza‐Carmona et al. · European Journal of Endocrinology · 2021 · 22 citations · Full text