• "Malignant" uterine perivascular epithelioid cell tumor, pelvic lymph node lymphangioleiomyomatosis, and gynecological pecomatosis in a patient with tuberous sclerosis: a case report and review of the literature
• A rare case of peripheral nerve hemangioblastoma—case report and literature review
• A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management
• Adult-onset ataxia-telangiectasia. A clinical and therapeutic observation
• Ampullary somatostatinomas and jejunal gastrointestinal stromal tumor in a patient with Von Recklinghausen's disease
• ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype
• ATM mutations in patients with hereditary pancreatic cancer
• Atypical teratoid rhabdoid tumor mimicking type II neurofibromatosis: A case report
• Auditory brainstem implantation in patient with bilateral acoustic neuromas
• Auditory brainstem implantation in patients with neurofibromatosis type 2
• Auditory brainstem implants in NF2 patients: results and review of the literature
• Auditory brainstem implants: surgical aspects
• Calcified Sclero-Choroidal Choristomas in Mosaic RASopathies: A Description of a New Imaging Sign
• Characterization and management of facial angiofibroma related to tuberous sclerosis complex in the United States: retrospective analysis of the natural history database
• Characterization of NF1 frameshift mutations in pediatric patients with neurofibromatosis type I
• Choroidal hemangioma
• Chronic pain and obstetric management of a patient with tuberous sclerosis
• Circular RNA_0061587 is associated with the tumorigenesis of neurofibromatosis type 1
• Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1
• Clinical and surgical features of lower brain stem hemangioblastomas in von Hippel-Lindau disease
• Clinical application of the multichannel auditory brainstem implant
• Clinical reasoning: a 36-year-old man with vertical diplopia
• Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings
• Congenital and genetic cerebrovascular anomalies as risk factors for stroke in Saudi children
• Cost-utility analysis of competing treatment strategies for drug-resistant epilepsy in children with Tuberous Sclerosis Complex
• Dandy Walker
• Dandy-Walker Malformation
• De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth
• Different clinical and laboratory evolutions in ataxia-telangiectasia syndrome: report of four cases
• Downregulation of CD47 and CD200 in patients with focal cortical dysplasia type IIb and tuberous sclerosis complex
• Early viral suppression improves neurocognitive outcomes in HIV-infected children
• End-stage achalasia in a patient with neurofibromatosis treated with laparoscopic Heller myotomy
• Enhanced radiation-mediated cell killing of human cervical cancer cells by small interference RNA silencing of ataxia telangiectasia-mutated protein
• Epithelioid angiomyolipoma in a child--a diagnostic dilemma
• Extended Middle Cranial Fossa Approach for Placement of Auditory Brainstem Implants
• Familial intracranial ependymoma mimicking an extra-lesion: A case report and review of the literature
• Fetal neuroimaging findings in PHACE syndrome: case report and review of the literature
• From molecules to behavior: lessons from the study of rare genetic disorders
• Gastrointestinal stromal tumor (GIST) in a patient with neurofibromatosis type 1. Report of one case
• Giant congenital melanocytic naevus associated with Dandy-Walker malformation, lipomatosis and hemihypertrophy of the leg
• Giant intrathoracic meningoceles associated with cutaneous neurofibromatosis type I: case report
• Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL
• High-grade L5 spondylolisthesis associated with dural ectasia in neurofibromatosis
• Histopathologic features of intracranial vascular involvement in fibromuscular dysplasia, ehlers-danlos type IV, and neurofibromatosis I
• Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1
• In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients
• Infant With Fever and Shortness of Breath
• Infantile clivus chordoma without clivus involvement: case report and review of the literature
• Intracranial arteriopathy in tuberous sclerosis complex
• Intracranial malignant triton tumor in a patient with neurofibromatosis type 1: case report and review of the literature
• Large somatostatin-producing endocrine carcinoma of the ampulla of vater in association with GIST in a patient with von Recklinghausen's disease. Case report and review of the literature
• Lipid-rich variant of pancreatic endocrine neoplasms
• Local epileptogenic networks in tuberous sclerosis complex: a case review
• Management of von Hippel-Lindau-associated kidney cancer
• Mortality associated with neurofibromatosis type 1: a study based on Italian death certificates (1995-2006)
• mTORC1-mediated downregulation of COX2 restrains tumor growth caused by TSC2 deficiency
• Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy
• Natural history of PHACE syndrome: A survey of adults with PHACE
• Neurocutaneous melanosis associated with Dandy-Walker malformation
• Neurocutaneous melanosis in association with Dandy-Walker malformation: case report and literature review
• Neurocutaneous melanosis with associated Dandy-Walker complex
• Neurofibroma in Children hand - Case Report and Literature Review
• Neurofibromatosis contributing to carpometacarpal instability
• Neurofibromatosis type I with malignant peripheral nerve sheath tumors in the upper arm: A case report
• Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues
• Pedal Cutaneous Manifestations of Tuberous Sclerosis
• Peri-gestational risk factors for pediatric brain tumors in Neurofibromatosis Type 1
• Persistent second cervical intersegmental artery in a case of possible PHACE syndrome
• Phase 1 dose-escalation study to evaluate the safety, tolerability, pharmacokinetics, and anti-tumor activity of FCN-159 in adults with neurofibromatosis type 1-related unresectable plexiform neurofibromas
• Pituitary stalk hemangioblastoma: the fourth case report and review of the literature
• Postnatal Cytomegalovirus Infection May Increase the Susceptibility of Tuberous Sclerosis Complex to Autism Spectrum Disorders
• Progressive cystic lesion in a middle-aged patient with tuberous sclerosis complex: A case report
• Pseudosarcomatous myofibroblastic proliferation of the bladder-case report
• Pulmonary complications of type 1 neurofibromatosis
• Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report
• Relationships between the concentration of insulin-like growth factor-1 in serum in dairy cows in early lactation and reproductive performance and milk yield
• Resection of a Medulla Oblongata Hemangioblastoma: 2-Dimensional Operative Video
• Resective epilepsy surgery in tuberous sclerosis complex: a nationwide multicentre retrospective study from China
• Rhomboencephalosynapsis: Review of the Literature
• Rosette-forming glioneuronal tumor: report of a chiasmal-optic nerve example in neurofibromatosis type 1: special pathology report
• Rosette-forming glioneuronal tumour of the 4th ventricle in a NF1 patient
• Salvage partial nephrectomy for hereditary renal cancer: feasibility and outcomes
• Sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus syndrome
• Simultaneous choroid plexus carcinoma and pilocytic astrocytoma in a pediatric patient
• Soft tissue management of orbitotemporal neurofibromatosis
• Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome
• Supratentorial Hemangioblastoma in Adults: A Systematic Review and Comparison of Infratentorial and Spinal Cord Locations
• Surgical experience in 130 pediatric patients with Chiari I malformations
• Surgical Technique and Nuances of Resection of a Trochlear Schwannoma: Operative Video
• Surgical treatment of a giant neurofibroma
• Surgical Treatment of Dystrophic Spinal Curves Caused by Neurofibromatosis Type 1: A Retrospective Study of 26 Patients
• Surgical treatment of endolymphatic sac tumor with adjunctive stereotactic radiation therapy--case report
• The genetic spectrum of <em>NF1</em> variants in 10 unrelated Chinese families with neurofibromatosis type 1
• Topical netarsudil for treatment of glaucoma with elevated episcleral venous pressure: A pilot investigation in sturge-weber syndrome
• Trochlear Nerve Neurofibroma in a Clinically NF-1-Negative Patient; A Case Report and Review of Literature
• TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
• Tuberous scelerosis: a pedigree with five cases
• Tuberous Sclerosis Complex Genotypes and Developmental Phenotype
• Two novel mutations of <em>NF1</em> gene identified in Chinese patients with severe neurofibromatosis type 1
• Upregulation of 6-phosphofructo-2-kinase (PFKFB3) by hyperactivated mammalian target of rapamycin complex 1 is critical for tumor growth in tuberous sclerosis complex