Disease: Phacomatosis fourth
- "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
- Aberrant G protein signaling in nervous system tumors
- 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
- 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
- Multichannel auditory brainstem implant: update on performance in 61 patients
- 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
- 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