Neurofibromatosis 1

Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations in the NF1 gene. Here is the latest research.

April 17, 2021
Case Report

Somatic NF1 mutations in pituitary adenomas: Report of two cases.

Cancer Genetics
Christopher S HongE Zeynep Erson-Omay
April 16, 2021

Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.

European Journal of Human Genetics : EJHG
James WhitworthEamonn R Maher
April 14, 2021
Case Report

A rare case of cerebellar pilomyxoid astrocytoma associated with neurofibromatosis-1 in a young female; case report highlighting immunohistochemical features.

Indian Journal of Pathology & Microbiology
Siddhi Gaurish Sinai KhandeparkarNikhil Talathi
April 14, 2021
Open Access

Increased nuclear translation of YAP might act as a potential therapeutic target for NF1-related plexiform neurofibroma.

International Journal of Medical Sciences
Jia-Liang LiuZhong Du
April 14, 2021

Association of maternal body mass index with intellectual disability risk.

Archives of Disease in Childhood. Fetal and Neonatal Edition
Priscilla Ming Yi LeeJiong Li
April 13, 2021

Intramedullary Schwannoma of Cervicomedullary Junction: A Case report.

Alican TahtaZeki Sekerci
April 13, 2021

Utility of Preoperative Electrodiagnosis Together with Peripheral Nerve High-Resolution Ultrasound: A Complex Case Report of Neurofibromatosis Type I.

Journal of Neurological Surgery. Part A, Central European Neurosurgery
Federica BasaldellaGiovanna Squintani
April 12, 2021
Case Report
Open Access

Rapidly Growing Huge Lower Back Malignant Peripheral Nerve Sheath Tumour.

Naim AbuzarifaWan Azman Wan Sulaiman
April 10, 2021

Plexiform Neurofibroma Without Neurofibromatosis Type 1.

Acta dermatovenerologica Croatica : ADC
Uwe Wollina, Jacqueline Schönlebe
April 9, 2021
Open Access

Genomic Landscape of Malignant Peripheral Nerve Sheath Tumor-like Melanoma.

The Journal of Investigative Dermatology
Thiago P MunizDavid Hogg
April 8, 2021

Neurofibroma of the hard palate.

BMJ Case Reports
Bethany Cartwright, Kenneth Corsar
April 8, 2021

Peptide Receptor Radionuclide Therapy in Patients With Neurofibromatosis Type 2: Initial Experience.

Clinical Nuclear Medicine
Olivia KertelsConstantin Lapa
April 7, 2021

Thyroid function test levels in patients with neurofibromatosis type 1.

Minerva Pediatrics
Hilal Aydin, Ibrahim Hakan Bucak
April 7, 2021

Assessing neuropsychological phenotypes of pediatric brain tumor survivors.

Christina M SharkeyKristina K Hardy
April 6, 2021
Case Report
Open Access

Anesthetic management of a patient with type 1 neurofibromatosis and an occult pheochromocytoma: a case report.

Brazilian Journal of Anesthesiology
Polyxeni TheodosopoulouA Paraskeva

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