Profil bibliographique

Elsa Lucas‐Castro

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

6Publications signalées

8Citations signalées

4Affiliations récentes

Institutions déclarées

Hospital Universitario La Paz Hospital La Paz Institute for Health Research ERN GUARD-Heart Universidad Autónoma de Madrid

Domaines associés

RNA modifications and cancerDevelopmental Biology and Gene RegulationMitochondrial Function and PathologyRNA and protein synthesis mechanismsUbiquitin and proteasome pathways

Publications récentes

Accès ouvert 2026 articleOpenAlex

Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type

Elsa Lucas‐Castro, Rosario Ramos Mejía, Víctor Sánchez-Gaya, Álvaro Rada-Iglesias et autres

1 citationEuropean Journal of Human Genetics

2025 articleOpenAlex

Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo‐Fu Type

Elsa Lucas‐Castro, Francisca Díaz, Silvia Modamio‐Høybjør, Manuel Parrón et autres

0 citationsClinical Genetics

2024 articleOpenAlex

AMOTL1 ‐Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS ): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities

Natalia Gallego, Jair Tenorio, Alejandro Parra, Julián Nevado et autres

0 citationsClinical Genetics

2024 peer-reviewOpenAlex

Author response for " AMOTL1 ‐Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS ): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities"

Natalia Gallego, Jair Tenorio, Alejandro Parra, Julián Nevado et autres

0 citations

2024 articleOpenAlex

Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects

Francisca Díaz, Lucia Sentchordi, Elsa Lucas‐Castro, Silvia Modamio‐Høybjør et autres

3 citationsEuropean Journal of Endocrinology

2023 articleOpenAlex

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13 ‐related: Description of 11 further cases

Francisca Díaz, Manuel Parrón, Elsa Lucas‐Castro, Silvia Modamio‐Høybjør et autres

4 citationsClinical Genetics

Profil ORCID Notice OpenAlex

BNTIC News n’est pas le producteur de ces données. Recherche à la demande dans Crossref et Europe PMC, sans clé ; OpenAlex reste optionnel. Aucun service payant requis, aucune réponse conservée. Sources et limites.