• A case of intramandibular neurofibroma resembling a radicular cyst in a neurofibromatosis type 1 patient
• A Case of Multiple Perineuriomas in the Colon With Underlying Neurofibromatosis Type I
• A Case of Neurofibromatosis Type 1 Diagnosed after Idiopathic Rupture of Superficial Temporal Artery Pseudoaneurysm Requiring Endovascular Treatment
• A Case of Noonan Syndrome and Kyrle Disease: Casualty or Causality?
• A Case of Noonan Syndrome and Kyrle's Disease: Coincidence or Causality?
• A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome
• A non-classic form of McCune Albright syndrome with different presentations and review of the literatures
• A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study
• A novel NF1 mutation in a pediatric patient with renal artery aneurysm
• A Shepherd's Crook Deformity of Proximal Femur Treated by Valgus Osteotomy and Bone Grafting
• Acute Ischemic Stroke in an Infant With COVID-19 Infection and Delayed Diagnosis of Neurofibromatosis Type 1
• An unusual case of pediatric embryonal rhabdomyosarcoma with subsequent diagnosis of neurofibromatosis type 1
• Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1
• Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient
• Bilateral adrenal incidentaloma in a patient with acute appendicitis
• Cafe Au Lait Macules
• Cafe Au Lait Macules
• Cafe au lait spots: When and how to pursue their genetic origins
• Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Cafe au Lait Spots and review of literature
• Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare <em>NF1</em>: c.5392C&gt;T Mutation
• Case report: Bilateral spinal neurofibromatosis
• Case report: Gene mutation analysis and skin imaging of isolated cafe-au-lait macules
• Cerebral developmental venous anomalies in children with mismatch repair deficiency
• Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
• Clinical and dermoscopic polymorphisms in agminated Spitz nevi: Ugly presentation but benign behavior
• Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene
• Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome
• Clinical spectrum of neurofibromatosis type 1 among children in a tertiary care center
• Coexistence of Constitutional Mismatch Repair Deficiency syndrome and Lynch syndrome in a family of seven : MSH6 mutation and childhood colorectal cancer - a case series
• Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report
• Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management
• Craniofacial fibrous dysplasia and aneurismal bone cyst in a patient with McCune-Albright syndrome. A case report and review of the literature
• Delayed Diagnosis of McCune-Albright Syndrome
• Dermatofibrosarcoma Protuberans Presenting in a Patient With Neurofibromatosis Type 1: Potential Implications on Treatment
• Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study
• Dermatological manifestations, management, and care in RASopathies
• Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition
• Double-balloon enteroscopy for the detection of GIST in a patient with neurofibromatosis type 1
• Early presentation of neurofibromatosis type I patient with clitoromegaly and cafe au lait spots: A case report
• Endovascular Repair for Abdominal Aortic Aneurysm Rupture With Neurofibromatosis Type 1
• Epilepsy in Legius syndrome: Coincidence or causation?
• Fatal Retroperitoneal Bleeding in Neurofibromatosis Type 1: A Clinically Occult Complication
• Gamma knife radiotherapy in a neurofibromatosis type 1 Chinese pedigrees with NF1 gene frameshift mutation: A case report
• Gene diagnosis of infantile neurofibromatosis type I: A case report
• Giant Cystic Pheochromocytoma Associated With Neurofibromatosis Type 1: A Case Report
• Glioblastoma in a female neurofibromatosis 1 patient without IDH1, BRAF V600E, and TERT promoter mutations: A case report
• Glioma-Induced Seizure in a Neurofibromatosis Type 1 Patient: A Case Report
• Hemophagocytic Lymphohistiocytosis Secondary to Juvenile Myelomonocytic Leukemia: A Case Report and Review of the Literature
• Histologic correlates of "Choroidal abnormalities" in Neurofibromatosis type 1 (NF1)
• Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I
• Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant
• Jaffe-Campanacci syndrome; a case series and review of the literature
• Jejunal gastrointestinal stromal tumor that developed in a patient with neurofibromatosis type 1: a case report
• Koebner Phenomenon: Cafe-au-Lait Spots Developing after a Secondary-Degree Burn in a Patient with Neurofibromatosis Type 1
• Leopard syndrome: the potential cardiac defect underlying skin phenotypes
• Malignant Peripheral Nerve Sheath Tumor in an Army Reservist With Neurofibromatosis Type 1
• Mandibular neurofibroma with osseous deformities in a 3-year-old child with neurofibromatosis type 1: A case report presentation and diagnosis
• McCune-Albright Syndrome in Infant with Growth Hormone Excess
• McCune-Albright syndrome onset with vaginal bleeding
• MULTIPLE CAFE-AU-LAIT MACULES AND INTERTRIGINOUS FRECKLING: BEYOND THE RASOPATHIES
• Multiple desmoplastic Spitz nevi with BRAF fusions in a patient with ring chromosome 7 syndrome
• Multiple subepidermal calcified nodule confined to cafe-au-lait spots
• Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants
• Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1
• Neurofibroma: Case Series with Clinical Features and Recommendations
• Neurofibromas in Type I Neurofibromatosis. Description of a clinical case and literature review
• Neurofibromatosis type 1 initially presented with glaucoma in the Department of Ophthalmology: a case report
• Neurofibromatosis Type 1-Retinal Alterations Detectable with Optical Coherence Tomography Angiography
• Neurofibromatosis-associated Gastrointestinal Stromal Tumor Causing Small Bowel Obstruction
• Neurofibromatosis-Noonan Syndrome With Primary Amenorrhoea: A Case Report
• New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
• Non-Odontogenic Tumors of the Jaws
• Non-Odontogenic Tumors of the Jaws
• Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
• Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1
• Occipital bone defect caused by neurofibromatosis type I: A case report
• Orthopaedic manifestations of neurofibromatosis type 1: A case report
• Pathogenesis and treatment of a giant occipital bone defect with meningoencephalocele in an NF1 child: case report and review of the literature
• Piebaldism with cafe-au-lait macules resulting from a novel mutation of KIT gene in a three-generation Chinese family
• Primary pilocytic astrocytoma of the cerebellopontine angle in pediatric patient with neurofibromatosis type 1: a case report
• Primary Progressive Multiple Sclerosis in a Portuguese Patient With Neurofibromatosis Type 1
• Rare Association between Two Genetic Conditions: Turner Syndrome and Neurofibromatosis Type 1
• Rare giant renal artery aneurysm in neurofibromatosis type 1 patient: a case report
• Recurrent cardiac and skin myxomas along with acromegaly: A case report of carney complex
• Rhabdomyosarcoma as the first presentation in Neurofibromatosis Type 1: case series and review of the literature
• Satisfaction from surgical treatment and its influence on the wellbeing of patients with Recklinghausen disease - preliminary report
• Seizure in Patient with Neurofibromatosis and Amygdala Low-Grade Glioma
• Skin lesions indicate cause of acute gastrointestinal bleeding: neurofibromatosis type 1
• Spontaneous Near Fatal Hemorrhage into Neurofibromatosis Type 1 Lesion in the Scalp
• Synchronous cutaneous malignant peripheral nerve sheath tumor and jejunal gastrointestinal stromal tumor and submucosal angiomyolipoma in type 1 neurofibromatosis: A case report and literature review
• The genetics and diagnosis of pediatric neurocutaneous disorders: Neurofibromatosis and tuberous sclerosis complex
• The longest reported survival of a child with McCune-Albright syndrome and a severe early presenting phenotype consisting of neonatal cushing syndrome, cardiac and liver diseases
• Thick corpus callosum: An underrecognised but important diagnostic clue
• Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly
• Turner Syndrome and Neurofibromatosis 1: Rare Co-Existence with Important Clinical Implications
• Two cases of cytopenia associated with multiple malformations
• Unusual presentation of GIST associated with type 1 neurofibromatosis: A case report
• Updated Approach to Patients with Multiple Cafe au Lait Macules
• Use of Reflectance Confocal Microscopy to Predict Treatment Efficacy in Cafe Au Lait Macules
• Value of a cafe-au-lait macules screening clinic: Experience from The Hospital for Sick Children in Toronto