Nuria F. Catasus
Esplugues De Llobregat, CT 08950, Spain
Last Updated: 09/26/2026
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Found 8 publications
Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.
Journal: Bioinformatics (Oxford, England)
Published: November 21, 2025
NF2 lacking exon 11 induced by antisense gene therapy is able to partially recover merlin deficiency in NF2-SWN iPSC-derived spheroid model.
Journal: Molecular therapy. Nucleic acids
Published: November 19, 2025
Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro.
Journal: Molecular therapy. Nucleic acids
Published: February 24, 2022
Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: November 17, 2021
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Journal: Journal of medical genetics
Published: October 30, 2021
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
Journal: Journal of medical genetics
Published: October 28, 2020
Mechanical Reinforced Terminolateral Ileo-Transverse Anastomosis: An Option After Right Hemicolectomy-A 452 Patients Study.
Journal: Surgical technology international
Published: July 10, 2018
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Last Updated: 09/26/2026