Alström syndrome: current perspectives

por Álvarez-Satta, María, Castro-Sánchez, Sheila, Valverde, Diana
Publicado 2015

Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12)

por Álvarez-Satta, María, Castro-Sánchez, Sheila, Valverde, Diana
Publicado 2017

Functional analysis by minigene assay of putative splicing variants found in Bardet–Biedl syndrome patients

por Álvarez‐Satta, María, Castro‐Sánchez, Sheila, Pousada, Guillermo, Valverde, Diana
Publicado 2017

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

por Castro-Sánchez, Sheila, Álvarez-Satta, María, Tohamy, Mohamed A., Beltran, Sergi, Derdak, Sophia, Valverde, Diana
Publicado 2017

Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

por Castro-Sánchez, Sheila, Suarez-Bregua, Paula, Novas, Rossina, Álvarez-Satta, María, Badano, Jose L., Rotllant, Josep, Valverde, Diana
Publicado 2019

Author Correction: Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model

por Castro-Sánchez, Sheila, Suarez-Bregua, Paula, Novas, Rossina, Álvarez-Satta, María, Badano, Jose L., Rotllant, Josep, Valverde, Diana
Publicado 2020

ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia

por Álvarez-Satta, María, Lago-Docampo, Mauro, Bea-Mascato, Brais, Solarat, Carlos, Castro-Sánchez, Sheila, Christensen, Søren T., Valverde, Diana
Publicado 2021

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

por Pousada, Guillermo, Lupo, Vincenzo, Cástro-Sánchez, Sheila, Álvarez-Satta, María, Sánchez-Monteagudo, Ana, Baloira, Adolfo, Espinós, Carmen, Valverde, Diana
Publicado 2017