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Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
J Med Genet. 2023 Apr;60(4):406-415. doi: 10.1136/jmg-2022-108690. Epub 2022 Sep 7.
J Med Genet. 2023.
PMID: 36243518
Free PMC article.
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome.
Centeno-Pla M, Alcaide-Consuegra E, Gibson S, Prat-Planas A, Gutiérrez-Ávila JD, Grinberg D, Urreizti R, Rabionet R, Balcells S.
Centeno-Pla M, et al. Among authors: prat planas a.
J Med Genet. 2024 Mar 28:jmg-2024-109898. doi: 10.1136/jmg-2024-109898. Online ahead of print.
J Med Genet. 2024.
PMID: 38548315
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De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Castilla-Vallmanya L, Gürsoy S, Giray-Bozkaya Ö, Prat-Planas A, Bullich G, Matalonga L, Centeno-Pla M, Rabionet R, Grinberg D, Balcells S, Urreizti R.
Castilla-Vallmanya L, et al. Among authors: prat planas a.
Int J Mol Sci. 2021 Feb 4;22(4):1549. doi: 10.3390/ijms22041549.
Int J Mol Sci. 2021.
PMID: 33557041
Free PMC article.
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Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.
Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny AF, Casas-Alba D, Grinberg D, Balcells S, Serrano M, Rabionet R, Martin MA, Urreizti R.
Palma-Milla C, et al. Among authors: prat planas a.
Pediatr Neurol. 2024 Mar 14;155:8-17. doi: 10.1016/j.pediatrneurol.2024.03.008. Online ahead of print.
Pediatr Neurol. 2024.
PMID: 38569228
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