Results 81 to 90 of about 21,804 (172)

Recent Advancement of Neurofibromatosis Type 1: A Narrative Review

Acta Neurologica Taiwanica
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant genetic disorder caused by mutations in the NF1 gene on chromosome 17, which encodes the tumor-suppressor protein, neurofibromin.
Po-Yuan Huang, Society for Neurological Rare Disorders-Taiwan, Ming-Jen Lee   +2 more
doaj   +1 more source

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1.

PLoS ONE, 2018
The fertility of men with neurofibromatosis 1 (NF1) is reduced. Despite this observation, gonadal function has not been examined in patients with NF1. In order to assess the role of reduced neurofibromin in the testes, we examined testicular morphology ...
Harleen Chohan, Mitra Esfandiarei, Darian Arman, Catherine D Van Raamsdonk, Cornelis van Breemen, Jan M Friedman, Kimberly A Jett   +6 more
doaj   +1 more source

Neurofibroma of Lip: Report of a Rare Case

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Neurofibroma is a benign tumor of neural tissue origin. It most frequently involves the skin and rarely the oral mucosa. The nature of the disease has been recognized as hereditary with an autosomal dominant trait with variable penetrance.
N Kannan, Rajendra Patil, Sreenivasulu Pattipati   +2 more
doaj  

Diagnostic and therapeutic process of neurofibromatosis type 1 and type 2

Journal of Education, Health and Sport
Neurofibromatosis is one of the most common genetic diseases. It is inherited in an autosomal dominant manner. It is divided into two genetically distinct subtypes, characterised by multiple skin lesions and tumours of the peripheral and central nervous 
Michał Leśniewski, Iwona Welian-Polus, Izabela Oleksak, Karolina Maliszewska   +3 more
doaj   +1 more source

Neurofibromin [PDF]

, 2020
openaire   +1 more source

NF1 and SPRED1/2 cooperate through RAS-MAPK-independent functions. [PDF]

Proc Natl Acad Sci U S A
Silva JM, Canche L, Cheng A, Young LC, McCormick F.   +4 more
europepmc   +1 more source

Loss of EPB41L3: a common molecular link in the tumorigenesis of neurofibromatosis types 1 and 2. [PDF]

Front Oncol
Tao E, Zhou L, Xu Z, Ren H, Yang J, Chen Y, Wang Q, Liu M, Zhang Y, Liang W, Xu S, Zhong C, Wang Z.   +12 more
europepmc   +1 more source

Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1. [PDF]

Orphanet J Rare Dis
Clissa PB, Sanabani SS.
europepmc   +1 more source

Neurofibromin

, 2018
Jeremy Jones, Daniel Bell
openaire   +1 more source

Inhibition of Cxcr4 chemokine receptor signaling improves habituation learning in a zebrafish model of neurofibromatosis. [PDF]

Dis Model Mech
Miller AH, Yang Y, Schmidt N, Mathiaparanam J, Berres ME, Halloran MC.   +5 more
europepmc   +1 more source