A view on clinical genetics and genomics in Spain: of challenges and opportunities

por Pàmpols, Teresa, Ramos, Feliciano J., Lapunzina, Pablo, Gozalo‐Salellas, Ignasi, Pérez‐Jurado, Luis A., Pujol, Aurora
Publicado 2016

Cornelia de Lange syndrome and cancer: An open question

por Pallotta, Maria M., Di Nardo, Maddalena, Hennekam, Raoul C. M., Kaiser, Frank J., Parenti, Ilaria, Pié, Juan, Ramos, Feliciano J., Kline, Antonie D., Musio, Antonio
Publicado 2022

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

por Puisac, Beatriz, Arnedo, María, Casale, Cesar H., Ribate, María Pilar, Castiella, Tomás, Ramos, Feliciano J., Ribes, Antonia, Pérez-Cerdá, Celia, Casals, Nuria, Hegardt, Fausto G., Pié, Juan
Publicado 2010

Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

por Wierzba, Jolanta, Gil-Rodríguez, María Concepción, Polucha, Anna, Puisac, Beatriz, Arnedo, María, Teresa-Rodrigo, María Esperanza, Winnicka, Dorota, Hegardt, Fausto G, Ramos, Feliciano J, Limon, Janusz, Pié, Juan
Publicado 2012

Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder

por Latorre-Pellicer, Ana, Trujillano, Laura, del Rincón, Julia, Peña-Marco, Mónica, Gil-Salvador, Marta, Lucia-Campos, Cristina, Arnedo, María, Puisac, Beatriz, Ramos, Feliciano J., Ayerza-Casas, Ariadna, Pié, Juan
Publicado 2023

Two-step ATP-driven opening of cohesin head

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

Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11

por Latorre‐Pellicer, Ana, Ascaso, Ángela, Lucia‐Campos, Cristina, Gil‐Salvador, Marta, Arnedo, María, Antoñanzas, Rebeca, Ayerza‐Casas, Ariadna, Marcos‐Alcalde, Iñigo, Gómez‐Puertas, Paulino, Ramos, Feliciano J., Pié, Juan, Puisac, Beatriz
Publicado 2021

Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches

por Arnedo, María, Ascaso, Ángela, Latorre-Pellicer, Ana, Lucia-Campos, Cristina, Gil-Salvador, Marta, Ayerza-Casas, Ariadna, Pablo, María Jesús, Gómez-Puertas, Paulino, Ramos, Feliciano J., Bueno-Lozano, Gloria, Pié, Juan, Puisac, Beatriz
Publicado 2022

Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome

por Gil-Salvador, Marta, Latorre-Pellicer, Ana, Lucia-Campos, Cristina, Arnedo, María, Darnaude, María Teresa, Díaz de Bustamante, Aránzazu, Villares, Rebeca, Palma Milla, Carmen, Puisac, Beatriz, Musio, Antonio, Ramos, Feliciano J., Pié, Juan
Publicado 2022

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lan...

por Puisac, Beatriz, Teresa-Rodrigo, María-Esperanza, Hernández-Marcos, María, Baquero-Montoya, Carolina, Gil-Rodríguez, María-Concepción, Visnes, Torkild, Bot, Christopher, Gómez-Puertas, Paulino, Kaiser, Frank J., Ramos, Feliciano J., Ström, Lena, Pié, Juan
Publicado 2017

Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome

por Trujillano, Laura, Ayerza-Casas, Ariadna, Puisac, Beatriz, García, Gonzalo González, Ascaso, Ángela, Latorre-Pellicer, Ana, Arnedo, María, Lucia-Campos, Cristina, Gil-Salvador, Marta, Kaiser, Frank J., Ramos, Feliciano J., Pié, Juan, Bueno-Lozano, Gloria
Publicado 2022

Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

por Garcia, Patricia, Fernandez-Hernandez, Rita, Cuadrado, Ana, Coca, Ignacio, Gomez, Antonio, Maqueda, Maria, Latorre-Pellicer, Ana, Puisac, Beatriz, Ramos, Feliciano J., Sandoval, Juan, Esteller, Manel, Mosquera, Jose Luis, Rodriguez, Jairo, Pié, J., Losada, Ana, Queralt, Ethel
Publicado 2021

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

por Tejada, María-Isabel, Glover, Guillermo, Martínez, Francisco, Guitart, Miriam, de Diego-Otero, Yolanda, Fernández-Carvajal, Isabel, Ramos, Feliciano J., Hernández-Chico, Concepción, Pintado, Elizabet, Rosell, Jordi, Calvo, María-Teresa, Ayuso, Carmen, Ramos-Arroyo, María-Antonia, Maortua, Hiart, Milà, Montserrat
Publicado 2014

A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome

por Lucia-Campos, Cristina, Valenzuela, Irene, Latorre-Pellicer, Ana, Ros-Pardo, David, Gil-Salvador, Marta, Arnedo, María, Puisac, Beatriz, Castells, Neus, Plaja, Alberto, Tenes, Anna, Cuscó, Ivon, Trujillano, Laura, Ramos, Feliciano J., Tizzano, Eduardo F., Gómez-Puertas, Paulino, Pié, Juan
Publicado 2022

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

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

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

por Teresa-Rodrigo, María E., Eckhold, Juliane, Puisac, Beatriz, Pozojevic, Jelena, Parenti, Ilaria, Baquero-Montoya, Carolina, Gil-Rodríguez, María C., Braunholz, Diana, Dalski, Andreas, Hernández-Marcos, María, Ayerza, Ariadna, Bernal, María L., Ramos, Feliciano J., Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Pié, Juan, Kaiser, Frank J.
Publicado 2016

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

por Teresa-Rodrigo, María E., Eckhold, Juliane, Puisac, Beatriz, Dalski, Andreas, Gil-Rodríguez, María C., Braunholz, Diana, Baquero, Carolina, Hernández-Marcos, María, de Karam, Juan C., Ciero, Milagros, Santos-Simarro, Fernando, Lapunzina, Pablo, Wierzba, Jolanta, Casale, César H., Ramos, Feliciano J., Gillessen-Kaesbach, Gabriele, Kaiser, Frank J., Pié, Juan
Publicado 2014

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

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

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

por Krab, Lianne C., Marcos-Alcalde, Iñigo, Assaf, Melissa, Balasubramanian, Meena, Andersen, Janne Bayer, Bisgaard, Anne-Marie, Fitzpatrick, David R., Gudmundsson, Sanna, Huisman, Sylvia A., Kalayci, Tugba, Maas, Saskia M., Martinez, Francisco, McKee, Shane, Menke, Leonie A., Mulder, Paul A., Murch, Oliver D., Parker, Michael, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Rosenfeld Mokry, Jill A., Scarano, Emanuela, Shinawi, Marwan, Gómez-Puertas, Paulino, Tümer, Zeynep, Hennekam, Raoul C.
Publicado 2020

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

por Tenorio-Castaño, Jair, Morte, Beatriz, Nevado, Julián, Martinez-Glez, Víctor, Santos-Simarro, Fernando, García-Miñaúr, Sixto, Palomares-Bralo, María, Pacio-Míguez, Marta, Gómez, Beatriz, Arias, Pedro, Alcochea, Alba, Carrión, Juan, Arias, Patricia, Almoguera, Berta, López-Grondona, Fermina, Lorda-Sanchez, Isabel, Galán-Gómez, Enrique, Valenzuela, Irene, Méndez Perez, María Pilar, Cuscó, Ivón, Barros, Francisco, Pié, Juan, Ramos, Sergio, Ramos, Feliciano J., Kuechler, Alma, Tizzano, Eduardo, Ayuso, Carmen, Kaiser, Frank J., Pérez-Jurado, Luis A., Carracedo, Ángel, Lapunzina, Pablo
Publicado 2021