Related references
Note: Only part of the references are listed.No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients
Sonja Hutter et al.
HUMAN GENETICS (2016)
Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population
Aldo Vagge et al.
ACTA OPHTHALMOLOGICA (2015)
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
Kitiwan Rojnueangnit et al.
HUMAN MUTATION (2015)
Incidence and Mortality of Neurofibromatosis: A Total Population Study in Finland
Elina Uusitalo et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2015)
In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients
Raffaele Parrozzani et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
Is it time to change the neurofibromatosis 1 diagnostic criteria?
Gianluca Tadini et al.
EUROPEAN JOURNAL OF INTERNAL MEDICINE (2014)
Frequency of Choroidal Abnormalities in Pediatric Patients With Neurofibromatosis Type 1
Sertan Goktas et al.
JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS (2014)
Choroidal abnormalities in a 9-year-old girl with neurofibromatosis type 1
Shinji Makino et al.
PEDIATRICS INTERNATIONAL (2014)
Correlations between choroidal abnormalities, Lisch nodules, and age in patients with neurofibromatosis type 1
Shinji Makino et al.
CLINICAL OPHTHALMOLOGY (2014)
NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience
Audrey Sabbagh et al.
HUMAN MUTATION (2013)
Review and update of SPRED1 mutations causing legius syndrome
Hilde Brems et al.
HUMAN MUTATION (2012)
Choroidal Abnormalities Detected by Near-Infrared Reflectance Imaging as a New Diagnostic Criterion for Neurofibromatosis 1
Francesco Viola et al.
OPHTHALMOLOGY (2012)
A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations
Saba Sharif et al.
JOURNAL OF MEDICAL GENETICS (2011)
Birth Incidence and Prevalence of Tumor-Prone Syndromes: Estimates From a UK Family Genetic Register Service
D. G. Evans et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
NF1 Microdeletions in Neurofibromatosis Type 1: From Genotype to Phenotype
Eric Pasmant et al.
HUMAN MUTATION (2010)
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
Hilde Brems et al.
NATURE GENETICS (2007)
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
M. Upadhyaya et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Quantification and anatomic distribution of choroidal abnormalities in patients with type I neurofibromatosis
S Nakakura et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2005)
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1
B Castle et al.
JOURNAL OF MEDICAL GENETICS (2003)
Elevated risk for MPNST in NF1 microdeletion patients
T De Raedt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Frequency of choroidal abnormalities in neurofibromatosis type 1
T Yasunari et al.
LANCET (2000)