Results 31 to 40 of about 62,771 (244)

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Balkan Medical Journal, 2017
Background: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which the coexistence of autoimmune thyroiditis and thyroid gland tumours has been reported previously.
Serhat Güler, Gözde Yeşil, Hasan Önal   +2 more
doaj   +1 more source

Metalloproteinase 1 downregulation in neurofibromatosis 1: Therapeutic potential of antimalarial hydroxychloroquine and chloroquine

Cell Death and Disease, 2021
Neurofibromatosis type 1 is an autosomal dominant genetic disorder caused by mutation in the neurofibromin 1 (NF1) gene. Its hallmarks are cutaneous findings including neurofibromas, benign peripheral nerve sheath tumors.
Gaku Tsuji, Ayako Takai-Yumine, Takahiro Kato, Masutaka Furue   +3 more
doaj   +1 more source

Identification of growth hormone receptor in plexiform neurofibromas of patients with neurofibromatosis type 1

Clinics, 2008
OBJECTIVE: The aim of this study was to investigate the presence of growth hormone receptor in plexiform neurofibromas of neurofibromatosis type 1 patients.
Karin Soares Gonçalves Cunha, Eliane Porto Barboza, Eliene Carvalho da Fonseca   +2 more
doaj   +1 more source

Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities. [PDF]

, 2013
Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural ...
Castelo-Branco, M, Ribeiro, MJ, Silva, ED, Violante, IR   +3 more
core   +1 more source

Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1 [PDF]

, 2020
Neurofibromatosis type 1 (NF1) is a monogenic syndrome that gives rise to numerous symptoms including cognitive impairment, skeletal abnormalities, and growth of benign nerve sheath tumors.
Allaway, Robert J, Baker, Aaron, Banerjee, Jineta, Blakeley, Jaishri O, Gosline, Sara Jc, Greene, Casey S, Guinney, Justin, Hirbe, Angela, Moon, Chang In, Pratilas, Christine A, Taroni, Jaclyn N, Zhang, Xiaochun   +11 more
core   +2 more sources

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. [PDF]

PLoS ONE, 2018
BACKGROUND AND PURPOSE:Moyamoya angiopathy is a progressive cerebral vasculopathy. The p.R4810K substitution in RNF213 has previously been linked to moyamoya disease in Asian populations.
Claudia Santoro, Teresa Giugliano, Markus Kraemer, Annalaura Torella, Jan Claudius Schwitalla, Mario Cirillo, Daniela Melis, Peter Berlit, Vincenzo Nigro, Silverio Perrotta, Giulio Piluso   +10 more
doaj   +1 more source

Dynamic contrast-enhanced MRI and sequential CT findings of metaplastic breast carcinoma in neurofibromatosis type 1: A case report

Radiology Case Reports, 2023
Metaplastic breast carcinoma in neurofibromatosis type 1 is extremely rare. There are few reports about dynamic contrast-enhanced MRI findings and sequential CT findings of metaplastic breast carcinoma in neurofibromatosis type 1.
Saya Ando, MD, Shuichi Ito, MD, Kazuna Kawabata, MD, PhD, Mitsunori Kanagaki, MD, PhD, Yoichiro Hijikata, MD, Marina Kiso, MD,PhD, Sadatoshi Tsuzuki, MD, Hiroyuki Kimura, MD, PhD   +7 more
doaj   +1 more source

Rapid Response to Trametinib Combined With Chemotherapy for Infant BRAF‐Fused Chiasmatic Glioma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Infants, less than 1 year, with chiasmatic gliomas (ICG) present a major therapeutic challenge due to large tumor size, decreased vision, rapid progression, and poor response to vincristine/carboplatin chemotherapy. The majority have a BRAF fusion, which may respond to downstream MEK inhibitors but response time is slow. There are no safety or
Helen Toledano, Alexander Yelak, Walid Kaadan, Shlomo Caduri, Rivka Friedland, Orli Michaeli, Gad Dotan, Osnat Konen   +7 more
wiley   +1 more source

Tourette’s Syndrome and Neurofibromatosis 1

Pediatric Neurology Briefs, 2000
A case of Tourette’s syndrome in association with neurofibromatosis 1 is reported in an 11-year-old boy evaluated at the Instituto de Ciencias Neurologicas, Lima, Peru.
J Gordon Millichap
doaj   +1 more source

An isolated colonic neurofibroma: A rare colonic neoplasm. Case report with clinicopathologic features and review of literature

Human Pathology Reports, 2022
Neurofibromas of the large bowel are very rare and usually observed in the colonic region in neurofibromatosis type 1 (Von Recklinghausen’s disease).
Mukund Tinguria
doaj   +1 more source