Juan Pié

Affiliations

Departamento de Farmacología-Fisiología y Departamento de Pediatría, Hospital Clínico Universitario "Lozano Blesa", Facultad de Medicina, Universidad de Zaragoza, ISS-Aragon and CIBERER-GCV02, Unidad de Genética Clínica y Genómica Funcional, Zaragoza, Spain.

Publications (17)

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.

American journal of medical genetics. Part A

Avec: Francesco Cucco , Patrizia Sarogni , Sara Rossato , Mirella Alpa , Alessandra Patimo , Ana Latorre , Cinzia Magnani , Beatriz Puisac , Feliciano J Ramos , Juan Pié , Antonio Musio

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

Clinical genetics

Avec: Nina B Gold , Dong Li , Anna Chassevent , Frank J Kaiser , Ilaria Parenti , Tim M Strom , Feliciano J Ramos , Beatriz Puisac , Juan Pié , Kirsty McWalter , Maria J Guillen Sacoto , Hong Cui , Reem Saadeh-Haddad , Constance Smith-Hicks , Lance Rodan , Edward Blair , Elizabeth Bhoj

A Novel Intragenic Duplication in the

Genes

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

Schuurs-Hoeijmakers Syndrome (

Genes

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

Heart Disease Characterization and Myocardial Strain Analysis in Patients with

Journal of clinical medicine

Avec: Ana Latorre-Pellicer , Laura Trujillano , Julia Del Rincón , Mónica Peña-Marco , Marta Gil-Salvador , Cristina Lucia-Campos , María Arnedo , Beatriz Puisac , Feliciano J Ramos , Ariadna Ayerza-Casas , Juan Pié

Cornelia de Lange Spectrum.

Anales de pediatria

Avec: Ángela Ascaso , María Arnedo , Beatriz Puisac , Ana Latorre-Pellicer , Julia Del Rincón , Gloria Bueno-Lozano , Juan Pié , Feliciano J Ramos

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.

PloS one

Avec: Stefan Bagheri-Fam , Huijun Chen , Sean Wilson , Katie Ayers , James Hughes , Frederique Sloan-Bena , Pierre Calvel , Gorjana Robevska , Beatriz Puisac , Kamila Kusz-Zamelczyk , Stefania Gimelli , Anna Spik , Jadwiga Jaruzelska , Alina Warenik-Szymankiewicz , Sultana Faradz , Serge Nef , Juan Pié , Paul Thomas , Andrew Sinclair , Dagmar Wilhelm

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

Nature communications

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

Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.

Journal of clinical research in pediatric endocrinology

Avec: Ángela Ascaso , Ana Latorre-Pellicer , Beatriz Puisac , Laura Trujillano , María Arnedo , Ilaria Parenti , Elena Llorente , Juan José Puente-Lanzarote , Ángel Matute-Llorente , Ariadna Ayerza-Casas , Frank J Kaiser , Feliciano J Ramos , Juan Pié , Gloria Bueno-Lozano

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.

Cell reports

Avec: Ilaria Parenti , Farah Diab , Sara Ruiz Gil , Eskeatnaf Mulugeta , Valentina Casa , Riccardo Berutti , Rutger W W Brouwer , Valerie Dupé , Juliane Eckhold , Elisabeth Graf , Beatriz Puisac , Feliciano Ramos , Thomas Schwarzmayr , Macarena Moronta Gines , Thomas van Staveren , Wilfred F J van IJcken , Tim M Strom , Juan Pié , Erwan Watrin , Frank J Kaiser , Kerstin S Wendt

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

International journal of molecular sciences

Avec: 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

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

Scientific reports

Avec: 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

More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.

International journal of molecular sciences

Avec: María Arnedo , Ana Latorre-Pellicer , Cristina Lucia-Campos , Marta Gil-Salvador , Rebeca Antoñanzas-Peréz , Paulino Gómez-Puertas , Gloria Bueno-Lozano , Beatriz Puisac , Juan Pié

Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome.

Cureus

Avec: Laura Trujillano , Ariadna Ayerza-Casas , Beatriz Puisac , Ana Latorre-Pellicer , María Arnedo , Cristina Lucia-Campos , Marta Gil-Salvador , Ilaria Parenti , Frank J Kaiser , Feliciano J Ramos , Javier Trujillano , Juan Pié

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

International journal of molecular sciences

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

Case report: A novel case of parental mosaicism in

Frontiers in genetics

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

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

The international journal of cardiovascular imaging

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

Réseau de co-auteurs

Beatriz Puisac 16 collaborations

Feliciano J Ramos 14 collaborations

Ana Latorre-Pellicer 12 collaborations

María Arnedo 10 collaborations

Cristina Lucia-Campos 9 collaborations

Marta Gil-Salvador 9 collaborations

Frank J Kaiser 8 collaborations

Laura Trujillano 7 collaborations

Gloria Bueno-Lozano 7 collaborations

Ilaria Parenti 6 collaborations

Ariadna Ayerza-Casas 6 collaborations

Ángela Ascaso 6 collaborations

Paulino Gómez-Puertas 5 collaborations

Antonio Musio 3 collaborations

Tim M Strom 2 collaborations

Irene Valenzuela 2 collaborations

Alma Kuechler 2 collaborations

Julia Del Rincón 2 collaborations

Rebeca Antoñanzas-Pérez 2 collaborations

Iñigo Marcos-Alcalde 2 collaborations

Francesco Cucco 1 collaboration

Patrizia Sarogni 1 collaboration

Sara Rossato 1 collaboration

Mirella Alpa 1 collaboration

Alessandra Patimo 1 collaboration

Ana Latorre 1 collaboration

Cinzia Magnani 1 collaboration

Nina B Gold 1 collaboration

Dong Li 1 collaboration

Anna Chassevent 1 collaboration

Kirsty McWalter 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Hong Cui 1 collaboration

Reem Saadeh-Haddad 1 collaboration

Constance Smith-Hicks 1 collaboration

Lance Rodan 1 collaboration

Edward Blair 1 collaboration

Elizabeth Bhoj 1 collaboration

David Ros-Pardo 1 collaboration

Neus Castells 1 collaboration

Alberto Plaja 1 collaboration

Anna Tenes 1 collaboration

Ivon Cuscó 1 collaboration

Eduardo F Tizzano 1 collaboration

Jair Tenorio-Castaño 1 collaboration

Beatriz Morte 1 collaboration

Julián Nevado 1 collaboration

Víctor Martinez-Glez 1 collaboration

Fernando Santos-Simarro 1 collaboration

Sixto García-Miñaúr 1 collaboration

María Palomares-Bralo 1 collaboration

Marta Pacio-Míguez 1 collaboration

Beatriz Gómez 1 collaboration

Pedro Arias 1 collaboration

Alba Alcochea 1 collaboration

Juan Carrión 1 collaboration

Patricia Arias 1 collaboration

Berta Almoguera 1 collaboration

Fermina López-Grondona 1 collaboration

Isabel Lorda-Sanchez 1 collaboration

Enrique Galán-Gómez 1 collaboration

María Pilar Méndez Perez 1 collaboration

Ivón Cuscó 1 collaboration

Francisco Barros 1 collaboration

Sergio Ramos 1 collaboration

Eduardo Tizzano 1 collaboration

Carmen Ayuso 1 collaboration

Luis A Pérez-Jurado 1 collaboration

Ángel Carracedo 1 collaboration

None The ENoD-Ciberer Consortium 1 collaboration

None The Side Consortium 1 collaboration

Pablo Lapunzina 1 collaboration

Mónica Peña-Marco 1 collaboration

Stefan Bagheri-Fam 1 collaboration

Huijun Chen 1 collaboration

Sean Wilson 1 collaboration

Katie Ayers 1 collaboration

James Hughes 1 collaboration

Frederique Sloan-Bena 1 collaboration

Pierre Calvel 1 collaboration

Gorjana Robevska 1 collaboration

Kamila Kusz-Zamelczyk 1 collaboration

Stefania Gimelli 1 collaboration

Anna Spik 1 collaboration

Jadwiga Jaruzelska 1 collaboration

Alina Warenik-Szymankiewicz 1 collaboration

Sultana Faradz 1 collaboration

Serge Nef 1 collaboration

Paul Thomas 1 collaboration

Andrew Sinclair 1 collaboration

Dagmar Wilhelm 1 collaboration

Patricia Garcia 1 collaboration

Rita Fernandez-Hernandez 1 collaboration

Ana Cuadrado 1 collaboration

Ignacio Coca 1 collaboration

Antonio Gomez 1 collaboration

Maria Maqueda 1 collaboration

Juan Sandoval 1 collaboration

Manel Esteller 1 collaboration

Jose Luis Mosquera 1 collaboration

Jairo Rodriguez 1 collaboration

J Pié 1 collaboration

Ana Losada 1 collaboration

Ethel Queralt 1 collaboration

Elena Llorente 1 collaboration

Juan José Puente-Lanzarote 1 collaboration

Ángel Matute-Llorente 1 collaboration

Farah Diab 1 collaboration

Sara Ruiz Gil 1 collaboration

Eskeatnaf Mulugeta 1 collaboration

Valentina Casa 1 collaboration

Riccardo Berutti 1 collaboration

Rutger W W Brouwer 1 collaboration

Valerie Dupé 1 collaboration

Juliane Eckhold 1 collaboration

Elisabeth Graf 1 collaboration

Feliciano Ramos 1 collaboration

Thomas Schwarzmayr 1 collaboration

Macarena Moronta Gines 1 collaboration

Thomas van Staveren 1 collaboration

Wilfred F J van IJcken 1 collaboration

Erwan Watrin 1 collaboration

Kerstin S Wendt 1 collaboration

Maria Arnedo 1 collaboration

Cristina Gervasini 1 collaboration

Maria Piccione 1 collaboration

Milena Mariani 1 collaboration

Axel Weber 1 collaboration

Deniz Kanber 1 collaboration

Martin Munteanu 1 collaboration

Katharina Khuller 1 collaboration

Angelo Selicorni 1 collaboration

Rebeca Antoñanzas-Peréz 1 collaboration

Javier Trujillano 1 collaboration

María Jesús Pablo 1 collaboration

María Teresa Darnaude 1 collaboration

Aránzazu Díaz de Bustamante 1 collaboration

Rebeca Villares 1 collaboration

Carmen Palma Milla 1 collaboration

Gonzalo González García 1 collaboration