Modélisation pathologique pour la neurofibromatose de Type 1 : développement d’un test d’étude et applications pour la découverte de molécules actives

Modélisation pathologique pour la neurofibromatose de Type 1 : développement d’un test d’étude et applications pour la découverte de molécules actives

La neurofibromatose de type 1 (NF1) représente la maladie génétique autosomale dominante la plus fréquente en France, après la mucovisidose, avec une incidence de 1 individu sur 3500. Il s'agit d'une pathologie multi-systémique présentant un tableau clinique varié. Parmi la pléthore de sym...

Full description

Bibliographic Details
Main Author:	Aubin, Deborah
Other Authors:	Université Paris-Saclay (ComUE)
Language:	fr
Published:	2019
Subjects:	Neurofibromatose type 1 Modélisation pathologique Ostéoblastes Type 1 neurofibromatosis Disease modelling Osteoblasts
Online Access:	http://www.theses.fr/2019SACLE002/document

Similar Items

Neurofibromatosis: chronological history and current issues Neurofibromatose: histórico cronológico e aspectos atuais
by: João Roberto Antônio, et al.
Published: (2013-06-01)

Análise proteômica em neurofibromatose tipo 1
by: Marqui, Alessandra Bernadete Trovó de [UNESP]
Published: (2014)

Identification des évènements génétiques impliqués dans la transformation maligne de la neurofibromatose de type 1
by: Luscan, Armelle
Published: (2016)

Síndrome de microdeleción en la neurofibromatosis tipo- 1: presentación de un caso Microdeletion syndrome in neurofibromatosis type-1: a case report
by: Miladys Orraca Castillo, et al.
Published: (2011-12-01)

Prevalência de neurofibromas plexiformes em crianças e adolescentes com neurofibromatose tipo 1 Prevalence of plexiform neurofibroma in children and adolescents with type i neurofibromatosis
by: Luiz G. Darrigo Jr., et al.
Published: (2007-12-01)

Neurofibromatoses: part 1 ? diagnosis and differential diagnosis
by: Luiz Oswaldo Carneiro Rodrigues, et al.
Published: (2014-03-01)

Puberdade e crescimento em crianças e adolescentes com neurofibromatose tipo 1 Puberty and growth in children and adolescents with neuro fibromatosis type 1
by: Ana Carolina de Sá Viana, et al.
Published: (2004-04-01)

Neurofibromatose tipo 1 com manifestação oral: relato de caso e revisão da literatura Neurofibromatosis type 1 with oral manifestation: a case report and literature review
by: Pollianna Muniz Alves, et al.
Published: (2008-04-01)

O que pensam pacientes com Neurofibromatose tipo I a respeito de ter uma doença genética
by: Cantoni, Joyce
Published: (2013)

Reporte de familias con neurofibromatosis y otras enfermedades genéticas Reports of families suffering from neurofibromatosis and other genetic disorders
by: Miladys Orraca Castillo, et al.
Published: (2011-12-01)

Difficultés motrices, cognitives et comportementales chez les enfants et adolescents atteints de neurofibromatose de type 1 (maladie de von Recklinghausen)
by: Coutinho, Virginie
Published: (2015)

NEUROFIBROMATOSE TIPO 1 SEGMENTAR OU EM MOSAICO: A PROPÓSITO DE 2 DOENTES
by: Paulo Morais, et al.
Published: (2014-07-01)

Les LIM kinases dans la neurofibromatose de type 1 : caractérisation cellulaire et moléculaire de LIMK2-1, une isoforme associée à la déficience intellectuelle
by: Cuberos, Hélène
Published: (2016)

Inteligência em portadores de Neurofibromatose 1.
by: Bolini, Helenice Bianchi
Published: (2016)

Avaliação da qualidade de vida em pacientes adultos com neurofibromatose tipo 1
by: Protas, Júlia Schneider
Published: (2016)

Avaliação da qualidade de vida em pacientes adultos com neurofibromatose tipo 1
by: Protas, Júlia Schneider
Published: (2016)

Avaliação da qualidade de vida em pacientes adultos com neurofibromatose tipo 1
by: Protas, Júlia Schneider
Published: (2016)

FEOCROMOCITOMA E NEUROFIBROMATOSE 1
by: Rui Tavares-Bello, et al.
Published: (2014-06-01)

Neurofibromatose tipo 1: aspectos radiológicos do tórax Type 1 neurofibromatosis: radiological findings of the chest
by: Marcos Pontes Muniz, et al.
Published: (2010-06-01)

Hemotórax espontâneo em doente com neurofibromatose tipo I: A propósito de um caso clínico Spontaneous hemothorax in a neurofibromatosis type I patient: A case report
by: Alexandra Bento, et al.
Published: (2009-10-01)

Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome
by: Mantripragada, Kiran K.
Published: (2005)

Neurofibromatose: estudo genético-clínico, avaliação quantitativa dos mastócitos e dos componentes da matriz extracelular em neurofibromas.
by: Antonio, João Roberto
Published: (2016)

Vitamina D, polimorfismos do gene VDR e neurofibromatose 1
by: Bueno, Larissa Souza Mario
Published: (2012)

Vitamina D, polimorfismos do gene VDR e neurofibromatose 1
by: Bueno, Larissa Souza Mario
Published: (2012)

Vitamina D, polimorfismos do gene VDR e neurofibromatose 1
by: Bueno, Larissa Souza Mario
Published: (2012)

Mise en place d'un épiderme reconstitué dérivé de cellules pluripotentes humaines pour la thérapie cellulaire et la modélisation pathologique
by: Feteira, Jessica
Published: (2012)

Ressonância magnética da coluna vertebral de crianças e adolescentes com neurofibromatose tipo 1
by: Nogueira, Fabiano Morais
Published: (2016)

Escoliose Distrófica na Neurofibromatose Tipo I
by: Germano Nascimento, et al.
Published: (2016-01-01)

Escoliose Distrófica na Neurofibromatose Tipo I
by: Germano Nascimento, et al.
Published: (2016-01-01)

Etude des gènes LIMK2 et RNF135, impliqués dans les mécanismes moléculaires de la neurofibromatose de type 1, dans l'autisme et la déficience mentale
by: Tastet, Julie
Published: (2012)

Aneurisma da artéria vertebral extracraniana em puérpera portadora de neurofibromatose clássica Extracranial vertebral artery aneurysm during the puerperium in women with neurofibromatosis type 1
by: Carla Aparecida Faccio Bosnardo, et al.
Published: (2005-09-01)

Caracterización clínica de pacientes con neurofibromatosis segmentaria Clinical characterization of patients with segmental neurofibromatosis
by: Miladys Orraca Castillo, et al.
Published: (2012-04-01)

Modèles précliniques de schwannomes vestibulaires pour l'évaluation d’une stratégie de réduction de dose d’irradiation par combinaison avec des thérapies ciblées
by: Bonne, Nicolas-Xavier
Published: (2018)

Características del neurofibroma plexiforme en pacientes con neurofibromatosis tipo 1. Pinar del Río Characteristics of plexiform neurofibroma in patients suffering from Type-1 Neurofibromatosis. Pinar del Rio
by: Miladys Orraca Castillo, et al.
Published: (2012-08-01)

Neurofibromatose tipo 1: reparaÃÃo imediata com retalhos cutÃneos loco-regionais
by: Ercilio Guimaraes do Nascimento
Published: (2004)

Neurofibromatose tipo 1: mais comum e grave do que se imagina Neurofibromatosis type 1: more frequent and severe then usually thought
by: Juliana Ferreira de Souza, et al.
Published: (2009-01-01)

Evolution et facteurs pronostiques de la Neurofibromatose 1
by: Sbidian, Émilie
Published: (2012)

Shwannoma unilateral do acústico em criança sem associação com neurofibromatose
by: Gisele Alborghetti Nai, et al.
Published: (2011-12-01)

Untersuchung des Einflusses mitochondrialer Polymorphismen auf die phänotypische Ausprägung der Neurofibromatose Typ 1 bei monozygoten Zwillingen
by: Detjen, Anne Katrin
Published: (2005)

Avaliação da motricidade orofacial em indivíduos com neurofibromatose tipo 1
by: Carla Menezes da Silva, et al.
Published: (2015-02-01)

Cannot write session to /tmp/vufind_sessions/sess_0nl5d2oo393okrhnu4c5ga7aip