Results 21 to 30 of about 55,225 (233)

Bone Manifestations of Neurofibromatosis Type 1

Global Pediatric Health, 2022
Von Recklinghausen disease is the most common phacomatosis. It can affect many systems, including the bone system. Through these 2 cases, we illustrate the bone manifestations of this disease.
Ibrahima Dokal Diallo, Zaynab Iraqi Houssaini, Mehdi Tantaoui, Wend-Yam Mohamed Traoré, Behyamet Onka, Siham El Haddad, Latifa Chat, Nazik Allali   +7 more
doaj   +1 more source

Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]

, 2018
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F, Coutts, Alexander W, Dahiya, Sonika, Dombi, Eva, Fahrenkrug, Scott C, Fisher, James, Giovannini, Marco, Gutmann, David H, Isakson, Sara H, Kirstein, Mark N, Largaespada, David A, Messiaen, Ludwine, Moertel, Christopher L, Pluhar, G Elizabeth, Ratner, Nancy, Rizvi, Tilat, Rizzardi, Anthony E, Stemmer-Rachamimov, Anat O, Vitte, Jeremie, Watson, Adrienne L, Widemann, Brigitte C, Williams, Kyle B   +21 more
core   +2 more sources

A CASE OF NEUROFIBROMATOSIS TYPE 1 [PDF]

Journal of IMAB, 2008
Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance.
Valentina Dimitrova, Ivelina Yordanova, Verka Pavlova, Valentin Valtchev, Dimitar Gospodinov, Boryana Parashkevova, Chavdar Balabanov   +6 more
doaj   +1 more source

Statins, bone, and neurofibromatosis type 1

BMC Medicine, 2008
Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder. Major features include pigmentary abnormalities, benign tumors of the nerve sheath (neurofibromas), malignant tumors, learning disabilities, and skeletal dysplasia.
Korf Bruce R
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

Whole tumor RNA-sequencing and deconvolution reveal a clinically-prognostic PTEN/PI3K-regulated glioma transcriptional signature [PDF]

, 2017
The concept that solid tumors are maintained by a productive interplay between neoplastic and non-neoplastic elements has gained traction with the demonstration that stromal fibroblasts and immune system cells dictate cancer development and progression ...
Bush, Erin C, Gutmann, David H, Ma, Yu, Pan, Yuan, Sims, Peter A, Solga, Anne C, Toonen, Joseph A   +6 more
core   +2 more sources

Mosaic neurofibromatosis type 1

Dermatology Online Journal, 2008
A 24-year-old man presented with numerous lentigines and multiple cafe-au-lait macules on both sides of the face, neck, and trunk as well as on the proximal area of the upper extremities and in the axillae. The pigmented lesions had a Blaschko-linear distribution on the upper trunk and were limited to the left side of the abdomen, with a sharp ...
Liang, Christine, Schaffer, Julie V
openaire   +4 more sources

Cortical Malformations in Neurofibromatosis Type 1

Pediatric Neurology Briefs, 2004
Different types of malformations of cortical development in three cases of neurofibromatosis 1 (NF1) are reported from the University of Siena, Italy.
J Gordon Millichap
doaj   +1 more source

An innovative resection of giant neurofibromas

Chinese Journal of Plastic and Reconstructive Surgery
Background: Plexiform neurofibromas (PNF) are highly vascular tumors with the potential for significant growth. Surgical removal of giant PNF is often challenging because of intraoperative hemorrhage.
Zhichao Wang, Xuan Yu, Yihui Gu, Wei Wang, Chengjiang Wei, Bin Gu, Jun Yang, Qingfeng Li   +7 more
doaj   +1 more source

Pulsating Enophthalmos in Neurofibromatosis Type 1

Medicine Science, 2015
Neurofibromatosis type 1 (NF-1) is a neurocutaneous syndrome with multisystem involvement, especially the central nervous system, eyes, and skin. In this article, we describe a patient with NF-1 with radiologically-imaged sphenoid wing aplasia that led ...
Yildiray Yildirim, Eyup Duzgun, Serkan Aribal, Taner Kar, Mehmet Sabahyildizi   +4 more
doaj   +1 more source