Personal information

No personal information available

Activities

Collapse all

Works (6)

Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

Journal of Medical Genetics
2024-08 | Journal article
DOI: 10.1136/jmg-2024-109898
Contributors: Mónica Centeno-Pla; Estefanía Alcaide-Consuegra; Sophie Gibson; Aina Prat-Planas; Juan Diego Gutiérrez-Ávila; Daniel Grinberg; Roser Urreizti; Raquel Rabionet; Susanna Balcells
Source: check_circle
Crossref

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

Pediatric Neurology
2024-06 | Journal article
DOI: 10.1016/j.pediatrneurol.2024.03.008
Contributors: Carmen Palma-Milla; Aina Prat-Planas; Emma Soengas-Gonda; Mónica Centeno-Pla; Jaime Sánchez-Pozo; Irene Lazaro-Rodriguez; Juan F. Quesada-Espinosa; Ana Arteche-Lopez; Jonathan Olival; Marta Pacio-Miguez et al.
Source: check_circle
Crossref

Subcellular localization of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

2024-01-23 | Preprint
DOI: 10.1101/2024.01.22.576607
Contributors: Mónica Centeno-Pla; Estefanía Alcaide-Consuegra; Sophie Gibson; Aina Prat-Planas; Juan Diego Gutiérrez-Ávila; Daniel Grinberg; Roser Urreizti; Raquel Rabionet; Susanna Balcells
Source: check_circle
Crossref

Expanding the phenotypic spectrum of TRAF7 syndrome: report of eleven new cases and literature review

2023-12-14 | Preprint
DOI: 10.1101/2023.12.13.23299272
Contributors: Carmen Palma-Milla; Aina Prat-Planas; Emma Soengas-Gonda; Mónica Centeno-Pla; Jaime Sánchez-Pozo; Irene Lazaro-Rodriguez; Juan F. Quesada-Espinosa; Ana Arteche-Lopez; Jonathan Olival; Marta Pacio-Miguez et al.
Source: check_circle
Crossref

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Journal of Medical Genetics
2023-04 | Journal article
DOI: 10.1136/jmg-2022-108690
Contributors: Laura Castilla-Vallmanya; Mónica Centeno-Pla; Mercedes Serrano; Héctor Franco-Valls; Raúl Martínez-Cabrera; Aina Prat-Planas; Elena Rojano; Juan A G Ranea; Pedro Seoane; Clara Oliva et al.
Source: check_circle
Crossref

<i>De Novo PORCN</i> and <i>ZIC2</i> Mutations in a Highly Consanguineous Family

International Journal of Molecular Sciences
2021-02 | Journal article | Author
DOI: 10.3390/ijms22041549
Contributors: Castilla-Vallmanya Laura; Semra Gürsoy; Özlem Giray-Bozkaya; Aina Prat-Planas; Gemma Bullich; Leslie Matalonga; Mónica Centeno-Pla; Raquel Rabionet; Daniel Grinberg; Susanna Balcells et al.
Source: check_circle
Multidisciplinary Digital Publishing Institute
grade
Preferred source (of 2)‎
How many people are using ORCID?