相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a Quasi-Incomplete NF1 phenotype
Claudia Santoro et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2023)
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1
Charlotte Carton et al.
ECLINICALMEDICINE (2023)
Systemic Review and Meta-analysis of the Intellectual Integrity of Children with Neurofibromatosis Type 1
Faris Abdullah Hamed Al-Farsi et al.
WORLD NEUROSURGERY (2022)
Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study
Eleonora Cosmo et al.
CANCERS (2022)
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review
Claudia Santoro et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus
Peter M. K. de Blank et al.
NEURO-ONCOLOGY (2022)
NF1 optic pathway glioma: analyzing risk factors for visual outcome and indications to treat
Amedeo A. Azizi et al.
NEURO-ONCOLOGY (2021)
Vision Outcomes for Pediatric Patients With Optic Pathway Gliomas Associated With Neurofibromatosis Type I: A Systematic Review of the Clinical Evidence
Vineeth M. Thirunavu et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2021)
Cutaneous Findings in Neurofibromatosis Type 1
Bengisu Ozarslan et al.
CANCERS (2021)
Hypertension in Children and Adolescents with Turner Syndrome (TS), Neurofibromatosis 1 (NF1), and Williams Syndrome (WS)
Ramya Sivasubramanian et al.
CURRENT HYPERTENSION REPORTS (2021)
Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions
Hildegard Kehrer-Sawatzki et al.
GENES (2021)
A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome
Claudia Santoro et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2021)
Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020
Jace P. Landry et al.
JAMA NETWORK OPEN (2021)
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings
Alessandra D'Amico et al.
CLINICAL GENETICS (2021)
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Eric Legius et al.
GENETICS IN MEDICINE (2021)
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions
Hildegard Kehrer-Sawatzki et al.
HUMAN GENETICS (2021)
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions
Gergely Buki et al.
FRONTIERS IN GENETICS (2021)
Natural History of Scoliosis in Children with NF1: An Observation Study
Giuseppe Toro et al.
HEALTHCARE (2021)
An update on the central nervous system manifestations of neurofibromatosis type 1
J. Stephen Nix et al.
ACTA NEUROPATHOLOGICA (2020)
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
Magdalena Koczkowska et al.
HUMAN MUTATION (2020)
Endovascular Management of Neurofibromatosis Type I-Associated Vasculopathy: A Case Series and Brief Review of the Literature
Joel Raborn et al.
VASCULAR AND ENDOVASCULAR SURGERY (2020)
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple cafe-au-lait macules
Elisabeth Castellanos et al.
CLINICAL GENETICS (2020)
Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
Christina Bergqvist et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Cafe au lait spots: When and how to pursue their genetic origins
Leah Lalor et al.
CLINICS IN DERMATOLOGY (2020)
Pretreatment Endocrine Disorders Due to Optic Pathway Gliomas in Pediatric Neurofibromatosis Type 1: Multicenter Study
Claudia Santoro et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)
Retrospective Multicentric Study on Non-Optic CNS Tumors in Children and Adolescents with Neurofibromatosis Type 1
Claudia Santoro et al.
CANCERS (2020)
The Use of MEK Inhibitors in Neurofibromatosis Type 1-Associated Tumors and Management of Toxicities
Laura J. Klesse et al.
ONCOLOGIST (2020)
Neurofibromatosis type 1-related hydrocephalus: causes and treatment considerations
Jonathan Roth et al.
CHILDS NERVOUS SYSTEM (2020)
Epilepsy in NF1: a systematic review of the literature
Pia Bernardo et al.
CHILDS NERVOUS SYSTEM (2020)
Neurofibromatosis 1-associated optic pathway gliomas
Ben Shofty et al.
CHILDS NERVOUS SYSTEM (2020)
Spinal manifestations of Neurofibromatosis type 1
Ben Shofty et al.
CHILDS NERVOUS SYSTEM (2020)
Epilepsy surgery in neurofibromatosis type 1: an overlooked therapeutic approach
Pia Bernardo et al.
CHILDS NERVOUS SYSTEM (2020)
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report
Claudia Santoro et al.
BMC NEUROLOGY (2020)
Understanding the Biological Activities of Vitamin D in Type 1 Neurofibromatosis: New Insights into Disease Pathogenesis and Therapeutic Design
Claudia Riccardi et al.
CANCERS (2020)
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation
Magdalena Koczkowska et al.
GENETICS IN MEDICINE (2019)
Multiple Burr-Hole Surgery for the Treatment of Moyamoya Disease and Quasi-Moyamoya Disease in Chilrirnn: Preliminary Surgical and Imaging Results
Giuseppe Mirone et al.
WORLD NEUROSURGERY (2019)
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders
Teresa Giugliano et al.
GENES (2019)
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease
Valentina Pinna et al.
GENES (2019)
Growth hormone excess in neurofibromatosis 1
Fady Hannah-Shmouni et al.
GENETICS IN MEDICINE (2019)
Prevalence of neurofibromatosis type 1 in the Finnish population
Roope A. Kallionpaa et al.
GENETICS IN MEDICINE (2018)
Optic Pathway Gliomas in Neurofibromatosis Type 1
Cynthia J. Campen et al.
JOURNAL OF CHILD NEUROLOGY (2018)
Pediatric neuro MRI: tricks to minimize sedation
Matthew J. Barkovich et al.
PEDIATRIC RADIOLOGY (2018)
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848
Magdalena Koczkowska et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Medullary unidentified bright objects in Neurofibromatosis type 1: a case series
Alessandra D'Amico et al.
BMC PEDIATRICS (2018)
A brief report of plexiform neurofibroma
Mandi Khajavi et al.
CURRENT PROBLEMS IN CANCER (2018)
Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes
Parisa Sharafi et al.
JOURNAL OF NEUROGENETICS (2018)
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1
Claudia Santoro et al.
PLOS ONE (2018)
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
Claudia Santoro et al.
ITALIAN JOURNAL OF PEDIATRICS (2018)
Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype
C. Santoro et al.
CLINICAL GENETICS (2018)
Pulmonary hypertension associated with neurofibromatosis type 1
Etienne-Marie Jutant et al.
EUROPEAN RESPIRATORY REVIEW (2018)
Emerging genotype-phenotype relationships in patients with large NF1 deletions
Hildegard Kehrer-Sawatzki et al.
HUMAN GENETICS (2017)
The relationship between neurofibromatosis type 1, juvenile xanthogranuloma, and malignancy: A retrospective case-control study
Carmen Liy-Wong et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2017)
Endoscopic Third Ventriculostomy in Patients with Neurofibromatosis Type 1: A Multicenter International Experience
Jonathan Roth et al.
WORLD NEUROSURGERY (2017)
Neurofibromatosis type 1
David H. Gutmann et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
Cognitive and Behavioral Disorders in Children with Neurofibromatosis Type 1
Martha Milade Torres Nupan et al.
FRONTIERS IN PEDIATRICS (2017)
Neurodevelopmental disorders in children with neurofibromatosis type 1
Alecia C. Vogel et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2017)
Growth hormone excess in children with neurofibromatosis type-1 and optic glioma
Paola Cambiaso et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience
Claudia G Santoro et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Association between moyamoya syndrome and the RNF213 c.14576G>A variant in patients with neurofibromatosis Type 1
Ji Hoon Phi et al.
JOURNAL OF NEUROSURGERY-PEDIATRICS (2016)
Nevus Anemicus As an Additional Diagnostic Marker of Neurofibromatosis Type 1 in Childhood
Pia Vaassen et al.
NEUROPEDIATRICS (2016)
The neurofibromin recruitment factor Spred1 binds to the GAP related domain without affecting Ras inactivation
Theresia Dunzendorfer-Matt et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Choroidal abnormalities in neurofibromatosis type 1 detected by near-infrared reflectance imaging in paediatric population
Aldo Vagge et al.
ACTA OPHTHALMOLOGICA (2015)
Arg1809 substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1
Claudia Santoro et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (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)
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
Valentina Pinna et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (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)
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies
Claudia Santoro et al.
BMC MEDICAL GENETICS (2014)
Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy
Florence Martin et al.
EUROPEAN JOURNAL OF PEDIATRICS (2014)
Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes
Tonino Ercolino et al.
GENE (2014)
Neurofibromatosis Type 1 Associated With Moyamoya Syndrome in Children
Anna Duat-Rodriguez et al.
PEDIATRIC NEUROLOGY (2014)
Autopsy case of concurrent Huntington's disease and neurofibromatosis type 1
Ito Kawakami et al.
PSYCHOGERIATRICS (2014)
Down syndrome and neurofibromatosis: a case report
Rebecca Schaffer et al.
SPECIAL CARE IN DENTISTRY (2014)
The RASopathies
Katherine A. Rauen
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 14 (2013)
Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer
Berta Campos et al.
BREAST CANCER RESEARCH AND TREATMENT (2013)
Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009
Claudia Santoro et al.
CLINICAL DYSMORPHOLOGY (2013)
Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence
Annukka Lehtonen et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2013)
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation
Shay Ben-Shachar et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Elevated Head Circumference-to-Height Ratio Is an Early and Frequent Feature in Children with Neurofibromatosis Type 1
Marjo Karvonen et al.
HORMONE RESEARCH IN PAEDIATRICS (2013)
NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience
Audrey Sabbagh et al.
HUMAN MUTATION (2013)
Height Assessments in Children With Neurofibromatosis Type 1
Elizabeth A. Soucy et al.
JOURNAL OF CHILD NEUROLOGY (2013)
Spectrum and Prevalence of Vasculopathy in Pediatric Neurofibromatosis Type 1
Bonnie Kaas et al.
JOURNAL OF CHILD NEUROLOGY (2013)
Nevus anemicus in neurofibromatosis type 1: A potential new diagnostic criterion
Myriam Marque et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2013)
Unidentified bright objects in neurofibromatosis type 1: Conventional MRI in the follow-up and correlation of microstructural lesions on diffusion tensor images
Jose Roberto Lopes Ferraz-Filho et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2012)
A Controlled Register-Based Study of 460 Neurofibromatosis 1 Patients: Increased Fracture Risk in Children and Adults Over 41 Years of Age
Eetu Heerva et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2012)
Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1
Ditta Zobor et al.
OPHTHALMIC GENETICS (2012)
Choroidal Abnormalities Detected by Near-Infrared Reflectance Imaging as a New Diagnostic Criterion for Neurofibromatosis 1
Francesco Viola et al.
OPHTHALMOLOGY (2012)
A Highly Sensitive Genetic Protocol to Detect NF1 Mutations
Maria Carmen Valero et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (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)
Cognitive Profile of Children with Neurofibromatosis and Reading Disabilities
Laurie E. Cutting et al.
CHILD NEUROPSYCHOLOGY (2010)
A Novel Third Type of Recurrent NF1 Microdeletion Mediated by Nonallelic Homologous Recombination between LRRC37B-Containing Low-Copy Repeats in 17q11.2
Kathrin Bengesser et al.
HUMAN MUTATION (2010)
Independent NF1 and PTPN11 Mutations in a Family With Neurofibromatosis-Noonan Syndrome
Christian Thiel et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
William E. Tidyman et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2009)
MEDICAL PROGRESS Moyamoya Disease and Moyamoya Syndrome
R. Michael Scott et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Unidentified bright objects on brain MRI in children as a diagnostic criterion for neurofibromatosis type 1
Jose Roberto Lopes Ferraz Filho et al.
PEDIATRIC RADIOLOGY (2008)
Increased dental caries in people with neurofibromatosis 1
Tracey Tucker et al.
CLINICAL GENETICS (2007)
Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification
A. De Luca et al.
JOURNAL OF MEDICAL GENETICS (2007)
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)
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome
A De Luca et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Prevalence of neurofibromatosis 1 in German children at elementary school enrollment
M Lammert et al.
ARCHIVES OF DERMATOLOGY (2005)
Blood pressure and cardiovascular involvement in children with neurofibromatosis type1
G Lama et al.
PEDIATRIC NEPHROLOGY (2004)
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
H Kehrer-Sawatzki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1)
JS Guillamo et al.
BRAIN (2003)
Cardiovascular disease in neurofibromatosis 1: Report of the NF1 cardiovascular task force
JM Friedman et al.
GENETICS IN MEDICINE (2002)
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
DGR Evans et al.
JOURNAL OF MEDICAL GENETICS (2002)
Frequency of choroidal abnormalities in neurofibromatosis type 1
T Yasunari et al.
LANCET (2000)
Renovascular disease and hypertension in children with neurofibromatosis
E Fossali et al.
PEDIATRIC NEPHROLOGY (2000)
Modulation of spinal deformities in patients with neurofibromatosis Type 1
AA Durrani et al.
SPINE (2000)