Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review.
Salehi M et al.
Health Science Reports, 2025
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.
Xu M et al.
Frontiers in Genetics, 2025
Interleukin-36 Is Highly Expressed in Skin Biopsies from Two Patients with Netherton Syndrome.
Pawlowski J et al.
Dermatopathology (basel, Switzerland), 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Successful infliximab treatment in siblings with Netherton syndrome: Unveiling a novel SPINK5 gene variant and literature review.
Salici NS et al.
The Australasian Journal of Dermatology, 2024
Development of Engineered-U1 snRNA Therapies: Current Status.
Gonçalves M et al.
International Journal of Molecular Sciences, 2023
2-year-old girl with severe eczema and brittle hair.
Unknown Author
Journal of Paediatrics and Child Health, 2023
Biological treatments for pediatric Netherton syndrome.
Pontone M et al.
Frontiers in Pediatrics, 2022
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.
Bellon N et al.
The British Journal of Dermatology, 2021
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome.
Zelieskova M et al.
Pediatric Dermatology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA et al.
Molecular Diagnosis & Therapy, 2017
Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.
Dal Mas A et al.
Human Mutation, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.
Fortugno P et al.
Journal of Human Genetics, 2012
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
Lacroix M et al.
The Journal of Investigative Dermatology, 2012