Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1.

Benign Peripheral Nerve Sheath Tumors: Recurrence Rates and Pain Outcomes Following Excision.

Frontotemporal-orbitozygomatic approach for pediatric cranio-orbital tumors: a single-center experience.

Cardiotoxicity of trametinib monotherapy in adults with neurofibromatosis type 1: Results from the TRAIN study.

Differences in Optic Pathway Glioma Prevalence among Children with Neurofibromatosis Type 1.

Lumbar Fracture Dislocation in a 14-Year-Old with Dystrophic Scoliosis, Neurofibromatosis Type 1, and a Normal Neurologic Examination: A Case Report.

Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.

Building a framework for adolescent and young adult transition of care for patients with neurofibromatosis type 1 and neurofibromatosis type 2-related schwannomatosis syndromes.

Adult patient and caregiver perspectives on the impact of NF1-PN: Insights from a US qualitative survey.

Real-world outcomes for selumetinib in pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas in Japan: A 1-year interim analysis.

Aorto-Renal Dysplasia in Childhood: The Overlap of Neurofibromatosis Type 1 and Pediatric Renovascular Hypertension.

A rare case report of solitary neurofibroma arising in the male breast.

Case Report: Somatic NF2 mutation in a vestibular schwannoma arising in a patient with neurofibromatosis type 1.

[Pheochromocytoma in Neurofibromatosis Type 1].

Surgical Outcomes in NF-1-Associated Upper Thoracic Dystrophic Scoliosis: A Retrospective Analysis.

Trametinib and Fimepinostat Induce Malignant Peripheral Nerve Sheath Tumor Cell Death In Vitro.

EEG response to hyperventilation in patients with neurofibromatosis type 1 and Moyamoya syndrome: Two case reports.

Congenital Upper Extremity Anomalies Misdiagnosed as Ulnar Longitudinal Deficiency.

Mirdametinib in symptomatic neurofibromatosis type 1 plexiform neurofibromas.

Surgical treatment of gastrointestinal stromal tumors.

GNAQ positive hepatic vascular tumors in a patient with neurofibromatosis type 1: A case report.

Translation and Cultural Adaptation of the PedsQL Neurofibromatosis Module, Version 3.0, Into Brazilian Portuguese.

Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies.

High-frequency ultrasound in genodermatoses.

Pancreatic Atypical Neurofibromatous Neoplasm with Uncertain Biological Potential (ANNUBP) Mimicking a Solid Pseudopapillary Tumor Pancreatic ANNUBP.

Neurofibromatosis type 1 with unilateral macrodactyly-like overgrowth: a case report.

Disease burden and unmet needs in adults with neurofibromatosis type 1 and plexiform neurofibromas: A systematic literature review.

Pediatric high-grade gliomas in patients with neurofibromatosis type 1-A collaborative cohort study from the SIOPE HGG/DIPG working group.

Neurogenetic tumor syndromes: The current landscape of workup and treatment.

Patient and caregiver experiences with selumetinib for the treatment of pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas.

Rare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma.

Excessive intraoperative hemorrhage during orthognathic surgery in a patient with neurofibromatosis type 1: a case report and literature review.

Precision restoration of complex cervical instability and decompression for neurofibromatosis type I: a case report using patient-specific 3D-printed templates.

Isolated Anterior Mesenteric Neurofibroma: A Rare Manifestation of Neurofibromatosis Type 1.

Tibial lengthening in congenital pseudoarthrosis of the tibia: a scoping review.

Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.

PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants.

Giant malignant peripheral nerve sheath tumor: Illustrative case and surgical technique.

Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation.

Retinal and Choroidal Changes in Neurofibromatosis Type 1 in Relation to Diagnostic Criteria and Disease Severity.

Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients.

A 17-Year-Old Male Adolescent With a Giant Isolated Scalp Neurofibroma Associated With a Calvarial Defect: A Case Report.

IFN signaling at the nexus of the radiotherapy response in malignant peripheral nerve sheath tumors.

Neurofibromatosis type 1 with concomitant Peutz-Jeghers syndrome in a child: a case report.

Clinical Outcomes Following Surgical Resection for Patients With Malignant Peripheral Nerve Sheath Tumors.

Duodenal ampullary neuroendocrine tumor, high risk gastrointestinal stromal tumor, and gastric leiomyoma in a patient with neurofibromatosis type 1: a rare case report and literature review.

A Systematic Review and Meta-Analysis of Executive Function Outcomes in Pediatric Central Nervous System Tumor Survivors.

Neurovascular Issues in Neurofibromatosis Type I: Focus on Intracranial Stenosis.

Cystic lung diseases in the daily routine: a comprehensive step-wise algorithm for the radiological diagnosis of cystic lung lesions and diffuse cystic lung diseases.

Bilateral pheochromocytoma as a late presentation of neurofibromatosis type 1.

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.

Ampullary Mixed Adenoma and Well-Differentiated Neuroendocrine Tumor (MANET) with Aberrant Beta-Catenin Expression in a Patient with Neurofibromatosis Type 1.

Unusual Presentation of Plexiform Neurofibroma Embedded with Large Comedones: A Case Report.

High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans.

Retinal Astrocytic Hamartoma in a Child With Neurofibromatosis Type 1 Treated With Selumetinib.

Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.

Cancer predisposition syndromes: an imaging review.

End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes.

Intelligence Over Time in Children with Neurofibromatosis Type 1 Based on a Structured Natural History-Study.

Single-stage posterior surgical management of grade 5 L5 spondylolisthesis in a patient with neurofibromatosis type 1 and dural meningocele: illustrative case.

Outcomes of Surgical Intervention of Dystrophic Cervical Kyphosis in Patients with Neurofibromatosis Type 1: A Systematic Review.

Congenital pseudarthrosis of the proximal tibia: a case report.

Nordic Society of Paediatric Haematology and Oncology (NOPHO) Radiotherapy Working Group consensus guidelines on radiotherapy for paediatric low-grade gliomas.

Oral findings and oral health-related quality of life in children with neurofibromatosis type 1: a case-control study.

From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal.

Neurofibromin 1 (NF1) Splicing Mutation c.61-2A>G: From Aberrant mRNA Processing to Therapeutic Implications In Silico.

Age-Specific ADHD and Internalizing/Externalizing Comorbidity in Children with Neurofibromatosis Type 1: A Multi-Site Study.

Diagnosis, treatment management, and challenges in neurofibromatosis type 1: a case report with mixed features.

Laryngeal neurofibroma: case report and review of the literature.

Efficacy and Safety of Tunlametinib in Adults with Inoperable Neurofibromatosis Type 1-Associated Plexiform Neurofibromas: Phase IIa Trial and Biomarker Research.

Sleep-Wake Dysregulation and Altered Melatonin in Neurofibromatosis Type 1.

Impaired Bone Healing and Fracture Complications during Limb Lengthening in a Neurofibromatosis Type 1 Patient Receiving Selumetinib: Case Report and Literature Review.

Unilateral Yasunari Nodule-Like Appearance in a Patient Without Neurofibromatosis Type 1.

A Multi-parametric MRI and Machine Learning Study of Cerebellar Structure in Youth with Neurofibromatosis Type 1.

Molecular convergence enables precision medicine for pediatric low grade gliomas.

Hepatic plexiform neurofibroma a rare manifestation of neurofibromatosis type 1: A case report and literature review.

Early onset scoliosis in syndromic and neuromuscular disorders: A multidisciplinary approach.

Sciatic Schwannoma in a Patient with Neurofibromatosis Type 1: A Report of a Minimally Invasive Surgical Technique and Review of the Literature.

Diffusely enlarged extraocular muscles in an infant with neurofibromatosis type 1.

Neurofibromatosis type 1 plexiform neurofibromas: Integrating treatment across pediatric and adult populations.

Breast cancer risk in women with neurofibromatosis type 1: a register-based cohort study from Denmark and Sweden.

Phenotypic Spectrum of Neurofibromatosis Type 1 Patients in India and Low Prevalence of Microdeletions in NF1 Gene.

[Neurofibromatosis 1-related tumors in pediatric patients].

Personalized medicine strategy for MPNSTs: using precision oncology on PDOX models to inform tumor boards.

Utilizing optical coherence tomography and machine learning to identify vision abnormalities in pediatric neurofibromatosis type 1 patients.

Bladder Fetal Rhabdomyoma Coexisting with Neurofibromatosis Type 1: A Differential Diagnostic Challenge.

Neurofibromatosis type I -related severe aplastic anemia: an unusual association with a complicated bone marrow transplantation course.

Disrupted Frontoparietal Dynamics in Neurofibromatosis Type 1: Reduced Sensitivity and Atypical Modulation During Working Memory.

Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series.

Small bowel obstruction from jejunal gastrointestinal stromal tumour in a young adult with neurofibromatosis type 10: a case report.

Safe cystoperitoneal shunting of thoracic meningocele in a patient with neurofibromatosis type 1.

Internal carotid artery sympathetic plexus neurofibroma - A case report.

Plexiform Neurofibroma of the Vulva in a Patient With Neurofibromatosis Type 1.

Non-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium.

Cutting Balloon Angioplasty for Resistant Pediatric Renal Artery Stenosis: A Single Institutional Experience.

Corneal confocal microscopy as a paraclinical test in neurodegenerative disease: a scoping review.

Perspectives of Patients and Providers on Chronic Pain Assessment in Neurofibromatosis Type 1 (NF1): A Qualitative Study.

Dermoscopy-Guided High-Frequency Ultrasound Imaging of Subcentimeter Cutaneous and Subcutaneous Neurofibromas in Patients with Neurofibromatosis Type 1.

Small Bowel Gastrointestinal Stromal Tumors: A 15-Year Cohort Study Focusing on Jejuno-Ileal Site-Specific Outcomes and Prognostic Factors.

Caffeine May Delay the Radiation-Induced Nucleoshuttling of the ATM Kinase and Reduce the Recognition of the DNA Double-Strand Breaks in Human Cells.

Pharmacokinetics and Safety of Selumetinib Granule Formulation in Children With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas (SPRINKLE; phase I/II).

FAP expression as a marker of malignant transformation enabling in vivo characterization in peripheral nerve sheath tumors: a multimodal and translational study.

Metachronous Pheochromocytoma and Cholangiocarcinoma in a patient with Neurofibromatosis type 1: a case report.

Healthcare utilization patterns and costs related to neurofibromatosis 1 in Ontario, Canada.

Subsequent primary and secondary neoplasms in childhood cancer survivors.

Inhibition of Cxcr4 chemokine receptor signaling improves habituation learning in a zebrafish model of neurofibromatosis.

HMGB1 affects the progression of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors through E2F2.

Clinical and Humanistic Burden Among Adults with Neurofibromatosis Type 1 and Symptomatic Plexiform Neurofibroma in the United States.

[A man with axillary and inguinal freckling, café-au-lait spots, and cutaneous nodules].

Outcomes following definitive treatment of malignant peripheral nerve sheath tumor are significantly worse for patients with neurofibromatosis type 1: A Canadian Sarcoma Research and Clinical Collaboration study.

(Not) "just your nature". Diagnostic journeys of adults with neurofibromatosis type 1 in Poland.

Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas.

Surgical treatment for neurofibromatosis type 1-related dystrophic scoliosis in children aged 8 to 11: traditional growing rod or posterior spinal fusion?

Asthma-mediated control of optic glioma growth via T cell-microglia interactions: A mathematical model.

Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.

Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series.

Microenvironmental TGF-β is an early driver of NF1-associated tumor formation.

Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.

Prevalence and management of lower limb segmental overgrowth in patients with NF1: an observational study.

Retroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1: a case report.

Pulmonary Hypertension in Rare Disease Overlap: Neurofibromatosis Type 1 Meets Sarcoidosis.

Radiologic Approach to Cystic Lung Diseases: From Cyst Definition to Diagnosis.

Tips and Pitfalls of Surgical Techniques for Scoliotic Deformities in Neurofibromatosis Type 1.

NF1 with Multiple Cardiac Structural Abnormalities Leading to Cerebral Infarction.

Breast cancer in a male with neurofibromatosis type 1.

SARC031: A Phase II Trial of Selumetinib and Sirolimus for Patients with Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumors (MPNST).

Ask and you will find: the importance of measuring stigma due to cutaneous neurofibromas in neurofibromatosis type 1.

Choroidal abnormalities in neurofibromatosis type 1.

Head-to-head preclinical treatment design prioritizes promising therapies for neurofibromatosis type 1 optic glioma clinical translation.

Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.

Midkine as a therapeutic node in NF1-driven neuro‑oncology: Biology, biomarkers, and translational strategies.

Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1.

An intercostal artery aneurysm rupture in a patient with neurofibromatosis type 1-associated gastrointestinal stromal tumor during sunitinib therapy.

Long-term Stable Unilateral Mandibular Deformity Associated With Ipsilateral Skull-base Soft-tissue Lesion and Degenerated Pterygoid Muscles in Neurofibromatosis Type 1.

Trapped in Silence: Severe Catatonia From Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis in a Neurofibromatosis Type 1 Patient With Craniopharyngioma.

When the Skin Tells a Pulmonary Story: A Case of Neurofibromatosis Type 1-Associated Pulmonary Hypertension.

Adjuvant Radiation Therapy in Breast Cancer Patients With Neurofibromatosis Type 1: Safety and Long-Term Outcomes.

[Von Recklinghausen's disease revealed by a thoracic mass and pulmonary cystic lesions].

Targeted therapies in optic pathway gliomas.

Malignant peripheral nerve sheath tumors in neurofibromatosis type 1 arise from distinct nodular lesions: A retrospective imaging analysis.

NF1-Specific Growth Charts for Head Circumference Over the First 3 Years of Life.

High-Resolution Nerve Ultrasound in Adults with NF1: An Accessible and Reproducible Imaging Tool for Plexiform Neurofibromas.

The Pathogenesis of the Neurofibroma-to-Sarcoma Transition in Neurofibromatosis Type I: From Molecular Profiles to Diagnostic Applications.

Frequency and face validity of reported family history of cancer in first-degree relatives and genetic syndromes among children with cancer in Project:EveryChild: A report from the Children's Oncology Group.

MOIS-SAM2: Exemplar-based segment anything model 2 for multi-lesion interactive segmentation of neurofibromas in whole-body MRI.

Concurrent Juvenile Myelomonocytic Leukemia and Gliomas in Patients With Neurofibromatosis Type 1.

Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.

Non-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review.

Consensus on Malignant and Benign Tumors in Pediatric Patients with Neurofibromatosis Type 1: On Behalf of the Brazilian Society of Pediatric Oncology (SOBOPE).

Incidence of Bevacizumab-Associated Toxicity in Children With Low-Grade Glioma With and Without Neurofibromatosis Type 1.

Post-strabismus surgery endophthalmitis without evident scleral perforation due to Haemophilus influenzae in a pediatric patient with neurofibromatosis type 1.

Clinical significance of thalamic FASI finding in neurofibromatosis type 1: Deepening the cognitive relevance with advanced approaches.

The first year of treatment with selumetinib for NF1-related plexiform neurofibroma is medically challenging in real-life settings.

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.

Pathological and Immunohistochemical Features of Malignant Peripheral Nerve Sheath Tumor With Heterologous Rhabdomy Oblastic Differentiation (Malignant Triton Tumor) in the Context of the Malignant Peripheral Nerve Sheath Tumor Spectrum.

Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional study.

Protein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1.

Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1.

[Malignant peripheral nerve sheath tumor presenting with Pancoast syndrome in a ‍patient with neurofibromatosis type 1].

Clinical benefits of selumetinib in adults with neurofibromatosis type 1 - Authors' reply.

Clinical benefits of selumetinib in adults with neurofibromatosis type 1.

Malignant peripheral nerve sheath tumors: a report from children's oncology group study ARST0332.

Neurofibromatosis Type 1: Genetic Mechanisms and Advances in Therapeutic Innovation.

Challenges and Progress for Treatment of Malignant Peripheral Nerve Sheath Tumors in the Context of Recent Successes for Sarcoma Therapy.

Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.

Fatal Triad of Subarachnoid Hemorrhage, Cervical Hematoma, and Upper Airway Obstruction in a Patient With Neurofibromatosis Type 1: A Case Report.

Ruptured giant lateral thoracic meningocele associated with intracranial hypotension syndrome in neurofibromatosis type 1: case report with long-term follow-up.

An Episcleral Lesion in a Patient With Neurofibromatosis Type 1.

Exploring Optic Glioma and Type 1 Neurofibromatosis: A Literature Review of Case Reports.

Coexistence of ulcerative colitis and neurofibromatosis type 1: a case report and literature review.

Attention skills, learning and academic abilities in children and adolescents with genetic disorders: a systematic review.

The Efficacy of the iCanCope Mobile Application for Neurofibromatosis Type 1 (NF1): A Three-Arm Randomized Controlled Trial.

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review.

Diagnostic challenges of the neurofibroma-malignant peripheral nerve sheath tumor spectrum in neurofibromatosis type 1: illustrative case.

Optic Nerve Glioma, Plexiform Neurofibroma, and Secondary Glaucoma in a Child With a Rare NF1 Variant (p.Gln83Ter): A Case Report.

Bibliometric Analysis of Global Research on Cafe-Au-Lait Macules from 2000 to 2025: Development, Collaboration Patterns, and Emerging Trends.

[Ganglioneuroma of the Small Intestine Mimicking Crohn's Disease].

Family Functioning, Anxiety, and Depressive Symptoms and Their Impact on Quality of Life in Children With Neurofibromatosis Type 1.

Malignant Peripheral Nerve Sheath Tumor Arising After Superficial Neurofibroma Excision: A Rare Sporadic Case in a Patient Without Neurofibromatosis Type 1.

Neurofibromatosis type 1-associated tumors in children.

Radiological insights into orbital and periorbital plexiform neurofibromas in children with neurofibromatosis type 1.

Cracking under pressure: Cognitive load influences performance in youth with NF1.

Neurofibromatosis review with focus on rehabilitation intervention.

RECQL4 alterations in gliomas and nerve sheath tumors: Expression patterns and therapeutic implications.

Quantitative assessment of the corneal subbasal nerve plexus in children with neurofibromatosis type 1 and optic pathway glioma using in vivo confocal microscopy.

Prevalence of optic pathway glioma in NF1: a systematic review and meta-analysis focused on MRI surveillance.

Academic Achievement of Children and Adolescents with Neurofibromatosis Type 1: A Systematic Review and Meta-Analysis.

High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study.

Clinical characteristics and healthcare burden of neurofibromatosis type 1 in Saudi Arabia: a single centre experience.

Neurofibromatosis Type 1 and the Search for Effective Tumor Therapies Using High-Throughput Drug Screening.

Retrospective Analysis of Pediatric Optic Pathway Gliomas: Impact of NF1 Status on Visual and Structural Outcomes.

Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: development, validation and severity strata of the cNF-PUSH-D.

Conservative Management of Spontaneous Posterior Mediastinal Intercostal Artery Hemorrhage: A Case Report and Literature Review.

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.

[Identification of two novel NF1 mutations and genotype-phenotype analysis in patients with neurofibromatosis type 1].

Genotype-first assessment of presentation and penetrance of neurofibromatosis type 1, autosomal dominant polycystic kidney disease, and Marfan syndrome within the All of Us research program cohort.

Clinical challenges of cancer predisposition syndromes with pediatric central nervous system tumors: a single-center study.