Ilaria Parenti

Affiliations

Institute for Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, DEU.

Publications (4)

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

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

Réseau de co-auteurs

Beatriz Puisac 4 collaborations

Frank J Kaiser 4 collaborations

Juan Pié 4 collaborations

Laura Trujillano 3 collaborations

Ana Latorre-Pellicer 3 collaborations

Cristina Lucia-Campos 3 collaborations

Marta Gil-Salvador 3 collaborations

Feliciano J Ramos 3 collaborations

Ariadna Ayerza-Casas 2 collaborations

María Arnedo 2 collaborations

Ángela Ascaso 2 collaborations

Rebeca Antoñanzas-Pérez 2 collaborations

Iñigo Marcos-Alcalde 2 collaborations

Gloria Bueno-Lozano 2 collaborations

Paulino Gómez-Puertas 2 collaborations

Javier Trujillano 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

Tim M Strom 1 collaboration

Erwan Watrin 1 collaboration

Kerstin S Wendt 1 collaboration

Maria Arnedo 1 collaboration

Antonio Musio 1 collaboration

Cristina Gervasini 1 collaboration

Maria Piccione 1 collaboration

Milena Mariani 1 collaboration

Axel Weber 1 collaboration

Deniz Kanber 1 collaboration

Alma Kuechler 1 collaboration

Martin Munteanu 1 collaboration

Katharina Khuller 1 collaboration

Angelo Selicorni 1 collaboration