VG
Valentina Guida
Ospedale Casa Sollievo della Sofferenza
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetic and Kidney Cyst Diseases · Genomic variations and chromosomal abnormalities
0000-0003-3946-645X
Employment
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Ospedale Casa Sollievo della Sofferenza PhD
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (53)
- Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs Save
- Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease Save
- Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome Save
- Early genetic analysis by next-generation sequencing improves diagnosis of primary ciliary dyskinesia Save
- FOXI3 pathogenic variants cause one form of craniofacial microsomia Save
- Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes Save
- Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects Save
- Genome-wide DNA methylation analysis of a cohort of 41 patients affected by oculo-auriculo-vertebral spectrum (OAVS) Save
- Neonatal Marfan Syndrome by Inherited Mutation Save
- Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome Save
- Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis Save
- A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1 Save
- Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome Save
- Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene Save
- Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes Save
- Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome Save
- Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect Save
- Novel α-actin gene mutation p.(Ala21Val) causing familial hypertrophic cardiomyopathy, myocardial noncompaction, and transmural crypts. clinical-pathologic correlation Save
- GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome Save
- Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology Save