ArticleOrphanet journal of rare diseases2014
Incontinentia pigmenti: report on data from 2000 to 2013.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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The trial behind it
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Who cites it
31 citing papers in PubMed.
- Consensus Guidance for Screening, Classification, and Treatment of Retinopathy Associated with Incontinentia Pigmenti.Ophthalmology science · 2026Article
- Simultaneous trophectoderm biopsies enable preimplantation genetic testing for monogenic disorders in de novo case of incontinentia pigmenti: case report.F&S reports · 2026Article
- A case of Incontinentia Pigmenti associated with concurrentFrontiers in medicine · 2026Article
- Monogenic disorders of the TNF signalling pathway.Nature reviews. Rheumatology · 2026Review
- Long-read sequencing is required for precision diagnosis of incontinentia pigmenti.HGG advances · 2025Article
- Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study.Acta dermato-venereologica · 2025Article
- Single-Cell RNA Sequencing in Incontinentia Pigmenti With Neonatal Encephalopathy Reveals Broad Immune Activation Moderated by Steroids.Neurology(R) neuroimmunology & neuroinflammation · 2025Article
- Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti.Journal of clinical medicine · 2025Article
- Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.Orphanet journal of rare diseases · 2024Article
- Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.The Journal of experimental medicine · 2024Article
- An efficient molecular genetic testing strategy for incontinentia pigmenti based on single-tube long fragment read sequencing.NPJ genomic medicine · 2024Article
- NF-κB Activation and X-Inactivation in Females with Incontinentia Pigmenti and Recurrent Infections.Journal of clinical immunology · 2024Article
- Case Report: Diagnosis and treatment ofFrontiers in pediatrics · 2024Article
- A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.Frontiers in pediatrics · 2024Article
- Case report: Variability in clinical manifestations within a family with incontinentia pigmenti.Frontiers in medicine · 2024Article
- Incontinentia Pigmenti: A Case Report of Early Clinical Symptoms in a Lack of Family Inheritance Positive Result.Clinical, cosmetic and investigational dermatology · 2023Article
- Challenges in Rare Diseases Diagnostics: Incontinentia Pigmenti with HeterozygousDiagnostics (Basel, Switzerland) · 2022Article
- Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.International journal of molecular sciences · 2022Review
- NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti.Clinical, cosmetic and investigational dermatology · 2022Article
- Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology.Frontiers in pediatrics · 2022Review
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report here on the building-up of a database of information related to 386 cases of Incontinentia Pigmenti collected in a thirteen-year activity (2000-2013) at our centre of expertise. The database has been constructed on the basis of a continuous collection of patients (27.6/year), the majority diagnosed as sporadic cases (75.6%). This activity has generated a rich source of information for future research studies by integrating molecular/clinical data with scientific knowledge. We describe the content, architecture and future utility of this collection of data on IP to offer comprehensive anonymous information to the international scientific community.
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