Results 21 to 30 of about 248 (159)

Mouse Models of Neurofibromatosis 1 and 2

Neoplasia: An International Journal for Oncology Research, 2002
The neurofibromatoses represent two of the most common inherited tumor predisposition syndromes affecting the nervous system. Individuals with neurofibromatosis 1 (NF1) are prone to the development of astrocytomas and peripheral nerve sheath tumors ...
David H. Gutmann, Marco Giovannini
doaj   +1 more source

Influence of cellular models and individual factor in the biological response to chest CT scan exams

European Radiology Experimental, 2022
Background While computed tomography (CT) exams are the major cause of medical exposure to ionising radiation, there is increasing evidence that the potential radiation-induced risks must be documented.
Clément Devic, Larry Bodgi, Laurène Sonzogni, Frank Pilleul, Hervé Ribot, Charlotte De Charry, François Le Moigne, Didier Paul, Fanny Carbillet, Mélodie Munier, Nicolas Foray   +10 more
doaj   +1 more source

Manejo quirúrgico de malformaciones del pie por neurofibromatosis tipo 1. Reporte de caso

Revista Colombiana de Ortopedia y Traumatología
Introducción. La neurofibromatosis (NF) es un síndrome neurocutáneo que puede afectar diferentes órganos y sistemas. Esta es una enfermedad huérfana-rara y su manejo representa un desafío clínico. Presentación del caso. Mujer de 33 años con malformación
Nathaly Patiño-Vargas, Juan Pablo López-García, Carlos Enrique Ramírez-Dávila, Mauricio Zuluaga-Botero, Paola Andrea Kafury-Goeta, Carlos Andrés Lores-Restrepo   +5 more
doaj   +1 more source

Cardiac imaging in RASopathies/mitogen activated protein kinase syndromes

Cardiogenetics, 2014
RASopathies include a spectrum of disorders due to dysregulation of RAS/mitogen activated protein kinase pathway that plays an essential role in the control of the cell cycle and differentiation.
Rita Gravino, Giuseppe Pacileo
doaj   +1 more source

The RASopathies: from pathogenetics to therapeutics

Disease Models & Mechanisms, 2022
The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello ...
Katie E. Hebron, Edjay Ralph Hernandez, Marielle E. Yohe   +2 more
doaj   +1 more source

A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene [PDF]

The American Journal of Human Genetics, 1998
Spinal neurofibromatosis (SNF) has been considered to be an alternative form of neurofibromatosis in which spinal cord tumors are the main clinical characteristic. Familial SNF has been reported, elsewhere, in three families-two linked to markers within the gene for neurofibromatosis type 1 (NF1) and the other not linked to NF1-but no molecular ...
Ars, Elisabet, Kruyer, Helena, Gaona, Antonia, Casquero, Pilar, Rosell, Jordi, Volpini, Víctor, Serra, Eduard, Lázaro, Conxi, Estivill, Xavier   +8 more
openaire   +2 more sources

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Tightly linked markers for the neurofibromatosis type 1 gene

Genomics, 1987
Relationships among genetic markers in the region of the neurofibromatosis type 1 (NF1) gene on chromosome 17 were investigated by linkage studies in a large sample set of affected families and in a panel of 58 normal families. A new marker, pHHH202 (D17S33), was included along with two markers known to be closely linked to NF.
Ray White, Yusuke Nakamura, Peter O'Connell, Mark Leppert, Jean-Marc Lalouel, David Barker, David Goldgar, Mark Skolnick, John Carey, C.E. Wallis, C.P. Slater, Chris Mathew, Bruce Ponder   +12 more
openaire   +2 more sources

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Genetic interactions between neurofibromin and endothelin receptor B in mice. [PDF]

PLoS ONE, 2013
When mutations in two different genes produce the same mutant phenotype, it suggests that the encoded proteins either interact with each other, or act in parallel to fulfill a similar purpose.
Mugdha Deo, Jenny Li-Ying Huang, Catherine D Van Raamsdonk   +2 more
doaj   +1 more source