ArticleGenes2022
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent
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Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21citing papers in PubMed
3.5field-weighted citation impact, top 6% of its field
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Who cites it
21 citing papers in PubMed, 28 citations in OpenAlex.
- Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1.Neurology. Genetics · 2026Article
- Neurovascular Issues in Neurofibromatosis Type I: Focus on Intracranial Stenosis.Life (Basel, Switzerland) · 2026Review
- Endovascular management of craniospinal arteriovenous fistula causing steal syndrome in neurofibromatosis type 1: a case report.AME case reports · 2026Article
- Protein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1.Scientific reports · 2025Article
- The spectrum of pathogenic NF1 variants in participants enrolling on clinical trials of MEK inhibitors for plexiform neurofibroma.Human genetics · 2025Article
- Review
- Current states in understanding oligodendroglia-mediated neurological issues in neurofibromatosis type 1 (NF1).Acta neuropathologica communications · 2025Review
- A haploinsufficiency restoration strategy corrects neurobehavioral deficits in Nf1+/- mice.The Journal of clinical investigation · 2025Article
- Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.Orphanet journal of rare diseases · 2025Article
- Review
- [Clinical characterization in patients with neurocutaneous syndrome].Revista medica del Instituto Mexicano del Seguro Social · 2025Observational
- Typical presentation of neurofibromatosis type I in a patient with giant cutaneous neoplasm and café au lait spots: A case report.Biomedical reports · 2025Article
- Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study.Human genome variation · 2024Article
- NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas.Human genome variation · 2024Article
- Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.Molecular biology reports · 2024Review
- [Gene therapy strategies and prospects for neurofibromatosis type 1].Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery · 2024Article
- Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.Heliyon · 2024Article
- Diagnosis and management of neurofibromatosis type 1 in Arabian Gulf Cooperation Council Region: challenges and recommendations.Frontiers in oncology · 2024Review
- Undiagnosed RASopathies in infertile men.Frontiers in endocrinology · 2024Article
- Germline Variants in Cancer Predisposition Genes in Pediatric Patients with Central Nervous System Tumors.International journal of molecular sciences · 2023Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Filomena NapolitanoDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
Milena Dell'AquilaDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
Chiara TerraccianoNeurology Unit, Azienda Unità Sanitaria Locale di Piacenza, 29121 Piacenza, Italy.
Giuseppina FranzeseDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
Maria Teresa GentileLaboratory of Cellular and Molecular Neuropathology, Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.ORCID 0000-0003-4239-5330
Giulio PilusoDepartment of Precision Medicine, University of Campania "Luigi Vanvitelli", Via L. De Crecchio 7, 80138 Naples, Italy.ORCID 0000-0001-9418-125X
Claudia SantoroDepartment of Women's and Children's Health and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, 80138 Naples, Italy.ORCID 0000-0003-4547-0500
Davide ColavitoR&I Genetics SRL, 35127 Padua, Italy.
Anna PatanèR&I Genetics SRL, 35127 Padua, Italy.
Paolo De BlasiisDepartment of Mental and Physical Health and Preventive Medicine, Section of Human Anatomy, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.ORCID 0000-0002-1317-7994
Simone SampaoloDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.ORCID 0000-0002-1383-6638
Simona PaladinoDepartment of Molecular Medicine and Medical Biotechnology, InterUniversity Center for Research in Neurosciences, University of Naples "Federico II", 80131 Naples, Italy.ORCID 0000-0001-5332-6774
Mariarosa Anna Beatrice MeloneDepartment of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and InterUniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.ORCID 0000-0002-7213-9277
University of Campania "Luigi Vanvitelli" · ITAzienda Unità Sanitaria Locale Piacenza · ITUniversity of Naples Federico II · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the
Indexed as
Neurofibromatosis 1Genes, Neurofibromatosis 1Genetic Association StudiesHumansNeoplasm Recurrence, LocalNeurofibromin 1PhenotypeNeurofibromin 1NF1 protein, humangenotype-phenotype correlationsinternal phenotypic categorizationmonocentric study cohortNeurofibromatosis type 1NF1 mutational spectrumnovel and recurrent NF1 mutations
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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.