,
,
NF1 gene and neurofibromatosis 1, Am J Epidemiol, vol.151, pp.33-40, 2000. ,
Identification of the neurofibromatosis type 1 gene product, Proc Natl Acad Sci, vol.88, pp.9658-62, 1991. ,
Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Göteborg, Acta Derm Venereol, vol.75, pp.136-176, 1995. ,
,
A genetic study of von ,
, Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity, J Med Genet, vol.26, pp.704-715, 1989.
,
, Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989, Eur J Hum Genet, vol.19, pp.1187-91, 2011.
,
Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1, J Clin Oncol, vol.34, pp.1978-86, 2016. ,
,
, Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases, Cancer, vol.57, pp.2006-2027, 1986.
Malignant schwannoma. A clinicopathologic study, Cancer, vol.31, pp.184-90, 1973. ,
Malignant peripheral nerve sheath tumors of cranial nerves and intracranial contents: a clinicopathologic study of 17 cases, Am J Surg Pathol, vol.33, pp.325-363, 2009. ,
Radiation-Induced Malignant Peripheral Nerve Sheath Tumors: A Systematic Review, World Neurosurg, 2017. ,
,
, Ann Dermatol Venereol, vol.128, pp.567-75, 2001.
Association between benign and malignant peripheral nerve sheath tumors in NF1, Neurology, vol.65, pp.205-216, 2005. ,
,
At-risk phenotype of neurofibromatose-1 patients: a multicentre casecontrol study, Orphanet J Rare Dis, vol.6, p.51, 2011. ,
URL : https://hal.archives-ouvertes.fr/inserm-00613196
Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1, Neuro Oncol, vol.10, pp.593-601, 2008. ,
Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1, Clin Cancer Res, vol.23, pp.46-53, 2017. ,
Multimodal Imaging in Neurofibromatosis Type 1-associated Nerve Sheath Tumors, Rofo, vol.187, pp.1084-92, 2015. ,
Metabolic Tumour Burden Measured by 18F-FDG PET/CT Predicts Malignant Transformation in Patients with Neurofibromatosis Type-1, PLoS ONE, vol.11, p.151809, 2016. ,
,
Increased risk of breast cancer in women with NF1, Am J Med Genet A, vol.158, pp.3056-60, 2012. ,
,
, Elevated Risk for MPNST in NF1 Microdeletion Patients, Am J Hum Genet, vol.72, pp.1288-92, 2003.
,
, Mb type-1 NF1 deletions, J Med Genet, vol.47, pp.623-653, 2010.
,
Identification of the neurofibromatosis type 1 gene product, Proc Natl Acad Sci, vol.88, issue.21, pp.9658-62, 1991. ,
NF1 gene and neurofibromatosis 1, Am J Epidemiol. 1 janv, vol.151, issue.1, pp.33-40, 2000. ,
The importance of advanced parental age in the origin of neurofibromatosis type 1, Am J Med Genet A. mars, vol.158, issue.3, pp.519-542, 2012. ,
An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age, Ulster Med J. sept, vol.77, issue.3, pp.160-163, 2008. ,
Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Göteborg, Acta Derm Venereol. mars, vol.75, issue.2, pp.136-176, 1995. ,
A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity, J Med Genet, vol.26, issue.11, pp.704-715, 1989. ,
Neurofibromatosis type 1 and Ras-mediated signaling: filling in the GAPs, Biochim Biophys Acta. 28 juill, vol.1242, issue.1, pp.43-59, 1995. ,
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects ,
, Hum Mutat, vol.15, issue.6, pp.541-55, 2000.
Identification and characterization of the neurofibromatosis type 1 protein product, Proc Natl Acad Sci, vol.88, issue.22, pp.9914-9922, 1991. ,
Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients, Nature. 23 avr, vol.356, issue.6371, pp.713-718, 1992. ,
Proteomic analysis reveals hyperactivation of the mammalian target of rapamycin pathway in neurofibromatosis 1-associated human and mouse brain tumors, Cancer Res. 1 avr, vol.65, issue.7, pp.2755-60, 2005. ,
Neurofibromatosis type 1. Nat Rev Dis Primers, 23 févr, vol.3, p.17004, 2017. ,
An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation, Am J Hum Genet. janv, vol.80, issue.1, pp.140-51, 2007. ,
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation, Hum Mutat, vol.36, issue.11, pp.1052-63, 2015. ,
Emerging genotype-phenotype relationships in patients with large NF1 deletions, Hum Genet, vol.136, issue.4, pp.349-76, 2017. ,
An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes, Am J Hum Genet. août, vol.53, issue.2, pp.305-318, 1993. ,
Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1, J Natl Cancer Inst, vol.103, issue.22, pp.1713-1735, 2011. ,
, Conference statement. National Institutes of Health Consensus Development Conference, Neurofibromatosis, vol.45, issue.5, pp.575-583, 1988.
,
, Ann Dermatol Venereol. avr, vol.128, issue.4, pp.567-75, 2001.
Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes, J Invest Dermatol. avr, vol.128, issue.4, pp.1050-1053, 2008. ,
Neurofibromatosis: Phenotype, Natural History, and Pathogenesis. 2nd, 1992. ,
Analysis of steroid hormone effects on xenografted human NF1 tumor Schwann cells ,
, Cancer Biol Ther, vol.15, issue.8, pp.758-64, 2010.
Cells of origin in the embryonic nerve roots for NF1-associated plexiform neurofibroma. Cancer Cell, vol.26, pp.695-706, 2014. ,
Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients, Am J Med Genet. 16 mai, vol.70, issue.2, pp.138-181, 1997. ,
Neurofibromatosis-1 (Nf1) heterozygous brain microglia elaborate paracrine factors that promote Nf1-deficient astrocyte and glioma growth, Hum Mol Genet. 1 mai, vol.16, issue.9, pp.1098-112, 2007. ,
,
, Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromindeficient mice, Hum Mol Genet. 1 déc, vol.22, issue.23, pp.4818-4846, 2013.
Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1, Arch Dermatol. août, vol.145, issue.8, pp.883-890, 2009. ,
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 ,
, Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only, EBioMedicine. 13 avr, vol.7, pp.212-232, 2016.
Use of « unidentified bright objects » on MRI for diagnosis of neurofibromatosis 1 in children, Neurology. 25 avr, vol.54, issue.8, pp.1646-51, 2000. ,
Brainstem lesions in neurofibromatosis type 1. Neurosurgery, vol.61, pp.762-766, 2007. ,
Renal artery stenosis and aneurysms associated with neurofibromatosis, J Vasc Surg. mars, vol.41, issue.3, pp.539-582, 2005. ,
Juvenile xanthogranuloma associated with neurofibromatosis 1: 14 patients without evidence of hematologic malignancies, Pediatr Dermatol. avr, vol.21, issue.2, pp.97-101, 2004. ,
Cutaneous xanthogranulomas, hepatosplenomegaly, anemia, and thrombocytopenia as presenting signs of juvenile myelomonocytic leukemia, Am J Clin Dermatol, vol.11, issue.1, pp.67-71, 2010. ,
A controlled register-based study of 460 neurofibromatosis 1 patients: increased fracture risk in children and adults over 41 years of age, J Bone Miner Res, vol.27, issue.11, pp.2333-2340, 2012. ,
Malignant peripheral nerve sheath tumours in neurofibromatosis 1, J Med Genet. mai, vol.39, issue.5, pp.311-315, 2002. ,
Neurofibromatosis 1-associated neuropathies: a reappraisal, Brain. sept, vol.127, pp.1993-2009, 2004. ,
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1), J Med Genet, vol.41, issue.11, pp.837-878, 2004. ,
Malignant peripheral nerve sheath tumors in patients with and without neurofibromatosis, Eur J Surg Oncol. févr, vol.21, issue.1, pp.78-82, 1995. ,
Risk of malignancy and death in neurofibromatosis, Arch Pathol Lab Med. févr, vol.121, issue.2, pp.139-182, 1997. ,
,
, Elevated Risk for MPNST in NF1 Microdeletion Patients, Am J Hum Genet. mai, vol.72, issue.5, pp.1288-92, 2003.
Survival in Malignant Peripheral Nerve Sheath Tumours: A Comparison between Sporadic and Neurofibromatosis Type 1-Associated Tumours, Sarcoma, p.756395, 2009. ,
Diagnosis and management of pheochromocytoma: a practical guide to clinicians, Curr Hypertens Rep. juill, vol.16, issue.7, p.442, 2014. ,
Gastrointestinal stromal tumour ,
URL : https://hal.archives-ouvertes.fr/hal-02301886
, Lancet. 14 sept, vol.382, issue.9896, pp.973-83, 2013.
Usefulness of screening investigations in neurofibromatosis type 1. A study of 152 patients, Arch Dermatol, vol.132, issue.11, pp.1333-1339, 1996. ,
What level of care for the neurofibromatoses? The Lancet. 3 avr, vol.353, pp.1114-1120, 1999. ,
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1, J Med Genet. févr, vol.44, issue.2, pp.81-89, 2007. ,
Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1, Clin Cancer Res. 15 juin, vol.23, issue.12, pp.46-53, 2017. ,
Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1, J Clin Oncol. 10 juin, vol.34, issue.17, pp.1978-86, 2016. ,
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening, J Med Genet. août, vol.44, issue.8, pp.481-485, 2007. ,
Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1, Neuro Oncol. août, vol.10, issue.4, pp.593-601, 2008. ,
Association between benign and malignant peripheral nerve sheath tumors in NF1, Neurology. 26 juill, vol.65, issue.2, pp.205-216, 2005. ,
Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations, Ann Neurol. mars, vol.61, issue.3, pp.189-98, 2007. ,
Endocrinologic disorders and optic pathway gliomas in children with neurofibromatosis type 1. Pediatrics, vol.100, pp.667-70, 1997. ,
Neurofibromatosis type 1 and sporadic optic gliomas, Arch Dis Child. juill, vol.87, issue.1, pp.65-70, 2002. ,
Ophthalmological assessment of children with neurofibromatosis type 1, Eur J Pediatr. oct, vol.172, issue.10, pp.1327-1360, 2013. ,
Optic pathway tumors in children: the effect of neurofibromatosis type 1 on clinical manifestations and natural history, J Pediatr. nov, vol.127, issue.5, pp.718-740, 1995. ,
Emergence of optic pathway gliomas in children with neurofibromatosis type 1 after normal neuroimaging results, J Pediatr, vol.121, issue.4, pp.584-591, 1992. ,
Pediatric low-grade gliomas, J Child Neurol, vol.24, issue.11, pp.1397-408, 2009. ,
Optic pathway gliomas, J Neuroophthalmol. sept, vol.31, issue.3, pp.269-78, 2011. ,
Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis, Neuro-oncology. juin, vol.14, issue.6, pp.790-797, 2012. ,
Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome, Am J Med Genet A, vol.122, issue.2, pp.95-104, 2003. ,
Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients, Ophthalmology. mars, vol.111, issue.3, pp.568-77, 2004. ,
Optic Pathway Gliomas in Neurofibromatosis Type 1: An Update: Surveillance, Treatment Indications, and Biomarkers of Vision, J Neuroophthalmol. sept, vol.37, issue.1, pp.23-32, 2017. ,
Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions, J Med Genet. sept, vol.47, issue.9, pp.623-653, 2010. ,
PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors, Nat Genet, vol.46, issue.11, pp.1227-1259, 2014. ,
Predisposition to Cancer Caused by Genetic and Functional Defects of ,
, PLOS Genetics. août, vol.7, issue.8, p.1002245, 2011.
An emerging role for microRNAs in NF1 tumorigenesis, Hum Genomics, vol.6, issue.1, p.23, 2012. ,