Publications by authors named "V Serpieri"
Article Synopsis
- Joubert syndrome (JS) is a complex genetic disorder that affects brain development but many patients remain undiagnosed even after exome sequencing.
- This study aimed to improve diagnosis by reanalyzing existing sequencing data to find hidden genetic variants, particularly copy number variants (CNVs) and splicing variations.
- The researchers found that these cryptic variants could be identified in a significant number of cases, providing a clearer diagnosis for 24% of previously undiagnosed patients, especially those with specific gene mutations.
We established two iPSC lines starting from skin fibroblasts of two healthy individuals using Sendai-virus-based technique. The obtained iPSCs were characterized showing same STR profile as starting fibroblasts, normal karyotype, loss of stemness vectors, expression of stemness markers, both through real-time PCR and immunofluorescence, (OCT4, SOX2, TRA-1-60, NANOG and SSEA4) and in vitro differentiation into three germ layers.
View Article and Find Full Text PDFWe generated iPSC line using skin fibroblasts obtained from a female patient affected by Joubert syndrome, caused by two compound heterozygous variants (c.143G > A; p.Gly48Glu and c.
View Article and Find Full Text PDFAim: To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects.
Method: This retrospective cross-sectional work included 59 patients (33 male; mean age 9 years 2 months, standard deviation 6 years 3 months, range 4 months to 23 years) diagnosed with Joubert syndrome from January 2002 to December 2020. Data about clinical (neurological, neuro-ophthalmological, developmental/cognitive) and diagnostic (e.