• A 23-year-female with plexiform neurofibroma type 1: a rare clinical image
• A Comprehensive Overview of NF1 Mutations in Iranian Patients
• A life-threatening, massive subcutaneous hematoma caused by trauma in a patient with neurofibromatosis type 1: a case report and literature review
• A platform for rapid patient-derived cutaneous neurofibroma organoid establishment and screening
• A prognostic model for use before elective surgery to estimate the risk of postoperative pulmonary complications (GSU-Pulmonary Score): a development and validation study in three international cohorts
• A rare Encounter with Pediatric Malignant Peripheral Nerve Sheath Tumor in Nasal Sinuses and Orbit
• A targeted gene panel illuminates pathogenesis in young people with unexplained kidney failure
• Aicardi-Goutieres Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum
• An Exploratory Analysis of Sociodemographic Factors Associated With Physical Functional Impairment in ICU Survivors
• An Overview of Optic Pathway Glioma With Neurofibromatosis Type 1: Pathogenesis, Risk Factors, and Therapeutic Strategies
• Association of BNT162b2 SARS-CoV-2 vaccination during pregnancy with postnatal outcomes in premature infants
• Cafe-au-lait spots with resistant hypertension are an indicator of pheochromocytoma: a rare case report
• Canadian Rheumatology Association Annual Scientific Meeting RBC Convention Centre (and Virtually) Winnipeg, Manitoba, Canada February 28-March 2, 2024
• Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database
• Clinical Impact of Serious Respiratory Disease in Children Under the Age of 2 Years During the 2021-2022 Bronchiolitis Season in England, Scotland, and Ireland
• Cognitive and psychiatric symptom trajectories 2-3 years after hospital admission for COVID-19: a longitudinal, prospective cohort study in the UK
• Cognitive profile, neuroimaging and fluid biomarkers in post-acute COVID-19 syndrome
• Concurrent Collection of Fetal Murine Brain and Serum to Assess Effects of Maternal Diet on Nutrition and Neurodevelopment in Neurofibromatosis Type 1
• Contemporary Approach to Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors
• Correction of cervical kyphoscoliosis, bisected spinal cord, and vertebral artery to epidural vein fistula in neurofibromatosis type 1
• Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients
• Defining predictors of responsiveness to advanced therapies in Crohn's disease and ulcerative colitis: protocol for the IBD-RESPONSE and nested CD-metaRESPONSE prospective, multicentre, observational cohort study in precision medicine
• Dietary intervention rescues a bone porosity phenotype in a murine model of Neurofibromatosis Type 1 (NF1)
• Digital solutions in paediatric sepsis: current state, challenges, and opportunities to improve care around the world
• Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?
• DRI Triton SS-OCT applied to detect choroidal nodules in paediatric patients affected by NF1
• Drosophila Contributions towards Understanding Neurofibromatosis 1
• Early trajectories of virological and immunological biomarkers and clinical outcomes in patients admitted to hospital for COVID-19: an international, prospective cohort study
• Effect of NFX-179 MEK inhibitor on cutaneous neurofibromas in persons with neurofibromatosis type 1
• Efficacy of Trametinib in Neurofibromatosis Type 1-Associated Gastrointestinal Stromal Tumors: A Case Report
• Electrical stimulation of Schwann cells on electrospun hyaluronic acid carbon nanotube fibers
• Endoscopic and Surgical Management of Bouveret Syndrome: Gastric Outlet Obstruction From an Impacted Gallstone
• Endoscopic submucosal dissection for a rare cause of esophageal mass: Von Recklinghausen's neurofibromatosis
• Enhanced IL-12 transgene expression improves oncolytic viroimmunotherapy
• eQTLs identify regulatory networks and drivers of variation in the individual response to sepsis
• Favorable Antiviral Effect of Metformin on Severe Acute Respiratory Syndrome Coronavirus 2 Viral Load in a Randomized, Placebo-Controlled Clinical Trial of Coronavirus Disease 2019
• Generation of a human iPSC line CIPi004-A from a patient with neurofibromatosis type 1 and epilepsy harboring a heterozygous mutation in NF1 gene
• Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes
• Giant cell granuloma and neurofibroma in the mandible of a patient with neurofibromatosis type 1: a long-term follow-up case report with radiological and surgical aspects and a review of the literature
• Guided Growth to Treat Anterolateral Tibial Bowing Associated with Congenital Pseudarthrosis of the Tibia
• Hemoperitoneum secondary to a malignant tumor of the sheath of the peripheral nerve in the liver
• Identification of cross reactive T cell responses in adenovirus based COVID 19 vaccines
• Images in Immunotherapy and Precision Oncology: A Case Report of Neurofibromatosis-1
• In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk
• Incidence of Ophthalmological Complications in NF-1 Patients Treated with MEK Inhibitors
• Infant Feeding and Weight Trajectories in the Eat, Sleep, Console Trial: A Secondary Analysis of a Randomized Clinical Trial
• Inflammatory rhabdomyoblastic tumor, pheochromocytoma, and pulmonary hamartoma in a patient with neurofibromatosis type 1: a case report
• Influence of Eat, Sleep, and Console on Infants Pharmacologically Treated for Opioid Withdrawal: A Post Hoc Subgroup Analysis of the ESC-NOW Randomized Clinical Trial
• INTRATHECAL BACLOFEN FOR NEUROFIBROMATOSIS RELATED SPINAL CORD INJURY WITH SPASTICITY - A CASE REPORT
• Jaffe-Campanacci syndrome; a case series and review of the literature
• Key features of choroidal abnormalities in neurofibromatosis type 1, a commentary on "Histologic correlates of "choroidal abnormalities" in neurofibromatosis type 1 (NF1)"
• Leveraging murine models of the neurofibromatosis type 1 cancer predisposition syndrome to elucidate the cellular circuits that drive pediatric low-grade glioma formation and progression
• Life-threatening gastrointestinal bleeding in a case of neurofibromatosis 1 and gastrointestinal stromal tumour managed with surgical intervention as a case report
• Malignant Nerve Sheath Tumour - A Case Report
• Malignant Peripheral Nerve Sheath Tumor, a Heterogeneous, Aggressive Cancer with Diverse Biomarkers and No Targeted Standard of Care: Review of the Literature and Ongoing Investigational Agents
• MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by <em>NF1</em> loss in Schwann cells and skeletal stem/progenitor cells
• Multimodal Imaging Characteristics and Diagnostic Value of Choroidal Nodules in Patients with Neurofibromatosis Type 1
• Myelopathy Associated with Rapid Progression of a Dystrophic Neurofibromatosis-1 Curve - A Case Report and Review of Literature
• Neurofibromatosis type 1 associated with pheochromocytoma: a case report with a brief review of the literature
• Neurofibromatosis type 1 with huge intrathoracic meningoceles misdiagnosed as pleural effusion: A case report and literature review
• Neurovascular pathology in a patient with neurofibromatosis type 1. Case report
• NF1^+/ex42del miniswine model the cellular disruptions and behavioral presentations of NF1-associated cognitive and motor impairment
• Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome
• Olfactory bulb anomalies in KBG syndrome mouse model and patients
• Optical coherence tomography of the macular ganglion cell layer in children with neurofibromatosis type 1 is a useful tool in the assessment for optic pathway gliomas
• Orbital malignant peripheral nerve sheath tumor: A case report and review
• Painful Swelling in a Case of Neurofibromatosis 1: An Intriguing Entity
• Pathological findings in enucleated eyes of patients with neurofibromatosis type 1: report of a case with 15-year follow-up and review of 14 patients in the literature
• Pediatric Acute Respiratory Distress Syndrome Severity and Health-Related Quality of Life Outcomes: Single-Center Retrospective Cohort, 2011-2017
• Prenatal diagnosis of familial 17q11.2 duplication encompassing NF1 in a pregnancy associated with asymptomatic carrier parent
• Quality of life in individuals with neurofibromatosis type 1 associated cutaneous neurofibromas: validation of the Dutch cNF-Skindex
• Reconstruction of congenital pseudarthrosis of the radius with a vascularized tibial periosteal transplant: A case report
• Recurrent spontaneous pneumothorax in an NF1 patient with a novel causative variant: broadening genotype-phenotype correlations
• Reply to L. Lucchino et al. on commentary on "Histologic correlates of "Choroidal Abnormalities" in Neurofibromatosis type 1"
• Researching COVID to enhance recovery (RECOVER) pediatric study protocol: Rationale, objectives and design
• Retracing RAS signaling by correlating protein expression in different subtypes of neurofibromatosis 1-associated nerve sheath tumors
• Revisiting the NPcis mouse model: A new tool to model plexiform neurofibroma
• Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibroma
• Selumetinib for children with neurofibromatosis type 1 and plexiform neurofibromas: A plain language summary of SPRINT
• Simultaneous L1-2 Bulged Disc and Mobile Spinal Schwannoma Causing Cauda Equina Syndrome: A Rare Case Report
• snRNA-seq of human cutaneous neurofibromas before and after selumetinib treatment implicates role of altered Schwann cell states, inter-cellular signaling, and extracellular matrix in treatment response
• Sporadic Creutzfeldt-Jakob disease in adults over 80 years: a 10-year review of United Kingdom surveillance
• Subperiosteal hematoma as a rare complication of neurofibromatosis 1: A case report and review of the literature
• Surgical Treatment Outcomes of Anterior-Only Correction and Reconstruction for Severe Cervical Kyphotic Deformity with Neurofibromatosis-1: A Retrospective Study with a 5-Year Follow-Up
• Survival after resection of malignant peripheral nerve sheath tumors: Introducing and validating a novel type-specific prognostic model
• Susceptibility to childhood sepsis, contemporary management, and future directions
• Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families from the Lynch Memorial Biobank reveals complex genetic architecture and phenocopies
• Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies
• The burden and contemporary epidemiology of sepsis in children
• The Cellular Stability Hypothesis: Evidence of Ferroptosis and Accelerated Aging-Associated Diseases as Newly Identified Nutritional Pentadecanoic Acid (C15:0) Deficiency Syndrome
• The chromatin regulator Ankrd11 controls cardiac neural crest cell-mediated outflow tract remodeling and heart function
• The genetic spectrum of <em>NF1</em> variants in 10 unrelated Chinese families with neurofibromatosis type 1
• The impact of cutaneous neurofibromas on quality of life and mental health in neurofibromatosis type 1
• The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta-analysis
• The profile of epilepsy and its characteristics in children with neurocutaneous syndromes
• Treating Severe Cervical Deformity in Neurofibromatosis 1 with a Posterior Fibula Graft from Occiput to Thoracic Spine: A Case Report
• Treatment of emotion regulation problems in people with neurofibromatosis type 1
• Unruptured giant lateral thoracic meningocele: extremely rare cause of cerebrospinal fluid (CSF) hypotension in neurofibromatosis type 1
• Vesicourachal Diverticulum: An Uncommon Incidental Finding on Staging ¹⁸F-FDG PET/CT in a Patient with Suspected Malignant Transformation of Neurofibromatosis
• Whole-exome sequencing revealed a likely pathogenic variant in NF1 causing neurofibromatosis type I and Arrhythmogenic Cardiomyopathy