ArticleClinical and experimental pediatrics2021
Neurofibromatosis type I: points to be considered by general pediatricians.
Article in Clinical and experimental pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibroma.Neuro-oncology · 2024Trial
- Unraveling a Hidden Mass: A 10-Year Mystery of Groin Swelling Reveals an Unexpected Diagnosis of Neurofibroma.Clinical case reports · 2026Article
- Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.European journal of pediatrics · 2025Article
- Selumetinib in Adult Neurofibromatosis 1 with Plexiform Neurofibroma.Pharmaceuticals (Basel, Switzerland) · 2025Article
- Treatment of Plexiform Neurofibromas : Current Perspectives on Surgery and Medical Treatment.Journal of Korean Neurosurgical Society · 2025Article
- Article
- Clinical Characteristics of Multiple Café-Au-Lait Macules and Their Potential Significance in the Early Screening of Genetic Diseases.Clinical, cosmetic and investigational dermatology · 2025Article
- Visual Deficits and Diagnostic and Therapeutic Strategies for Neurofibromatosis Type 1: Bridging Science and Patient-Centered Care.Vision (Basel, Switzerland) · 2024Review
- Not OnlyJournal of the Endocrine Society · 2024Article
- Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene.International journal of molecular sciences · 2023Article
- Mutational Spectrum and Genotype-phenotype Correlations in Neurofibromatosis Type 1 Patients from North Macedonia: Identification of Ten NovelBalkan medical journal · 2023Article
- The Role of Transposable Elements of the Human Genome in Neuronal Function and Pathology.International journal of molecular sciences · 2022Review
- Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.Orphanet journal of rare diseases · 2022Article
- Improving the lives of children with neurofibromatosis type 1.Clinical and experimental pediatrics · 2021Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous café-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and neoplastic manifestations. The clinical features of NF1 increase in frequency with age, while the clinical diagnosis can remain undetermined in some pediatric patients. Importantly, affected patients are at risk for developing tumors of the central and peripheral nervous system. Therefore, adequate counseling for genetic testing, age-appropriate surveillance, and management are important. This review suggests several issues that should be considered to help general pediatricians provide adequate clinical care and genetic counseling to patients with NF1 and their families.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.