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Publications by Fabiana Grosso
A Synonymous Mutation in SPINK5 Exon 11 Causes Netherton Syndrome by Altering Exonic Splicing Regulatory Elements
Journal of Human Genetics
Genetics
Related publications
Multisite and Bidirectional Exonic Splicing Enhancer in CD44 Alternative Exon V3
RNA
Molecular Biology
Exon Skipping Through the Creation of a Putative Exonic Splicing Silencer as a Consequence of the Cystic Fibrosis Mutation R553X
Journal of Medical Genetics
Genetics
Janus Kinase 3 Deficiency Caused by a Homozygous Synonymous Exonic Mutation That Creates a Dominant Splice Site
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Linking C5 Deficiency to an Exonic Splicing Enhancer Mutation
Journal of Immunology
Allergy
Immunology
Effect of Exonic Splicing Regulation on Synonymous Codon Usage in Alternatively Spliced Exons of Dscam
BMC Evolutionary Biology
Evolution
Ecology
Systematics
Behavior
Synonymous Mutation Adenomatous Polyposis coliΔ486s Affects Exon Splicing and May Predispose Patients to Adenomatous Polyposis Coli/mutY DNA Glycosylase Mutation‑negative Familial Adenomatous Polyposis
Molecular Medicine Reports
Oncology
Genetics
Molecular Biology
Biochemistry
Cancer Research
Molecular Medicine
Discovery and Characterization of Human Exonic Transcriptional Regulatory Elements
PLoS ONE
Multidisciplinary
A Nonsense Mutation in the Fibrillin-1 Gene of a Marfan Syndrome Patient Induces NMD and Disrupts an Exonic Splicing Enhancer
Genes and Development
Genetics
Developmental Biology
Binding of DAZAP1 and hnRNPA1/A2 to an Exonic Splicing Silencer in a Natural BRCA1 Exon 18 Mutant
Molecular and Cellular Biology
Cell Biology
Molecular Biology
