Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

by Juan L. García-Hernández, Luis A. Corchete, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Carmen Fons, Pedro A. Lazo
Published 2021-02-01

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome

by Pedro A. Lazo, Juan L. García, Paulino Gómez-Puertas, Íñigo Marcos-Alcalde, Cesar Arjona, Alvaro Villarroel, Rogelio González-Sarmiento, Carmen Fons
Published 2020-06-01

A nucleotide-controlled conformational switch modulates the activity of eukaryotic IMP dehydrogenases

by Rubén M. Buey, David Fernández-Justel, Íñigo Marcos-Alcalde, Graeme Winter, Paulino Gómez-Puertas, José María de Pereda, José Luis Revuelta
Published 2017-06-01

VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy

by Ana T. Marcos, Elena Martín‐Doncel, Patricia Morejón‐García, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, María Segura‐Puimedon, Lluis Armengol, José M. Navarro‐Pando, Pedro A. Lazo
Published 2020-05-01

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

by Beatriz Puisac, Iñigo Marcos-Alcalde, María Hernández-Marcos, Pilar Tobajas Morlana, Alina Levtova, Bernd C. Schwahn, Corinne DeLaet, Baiba Lace, Paulino Gómez-Puertas, Juan Pié
Published 2018-03-01

Two-step ATP-driven opening of cohesin head

by Íñigo Marcos-Alcalde, Jesús I. Mendieta-Moreno, Beatriz Puisac, María Concepción Gil-Rodríguez, María Hernández-Marcos, Diego Soler-Polo, Feliciano J. Ramos, José Ortega, Juan Pié, Jesús Mendieta, Paulino Gómez-Puertas
Published 2017-06-01

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

by Ana Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo, Cristina Lucia-Campos, Rebeca Antoñanzas-Pérez, Iñigo Marcos-Alcalde, Ilaria Parenti, Gloria Bueno-Lozano, Antonio Musio, Beatriz Puisac, Frank J. Kaiser, Feliciano J. Ramos, Paulino Gómez-Puertas, Juan Pié
Published 2020-02-01

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

by Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié
Published 2021-07-01