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The role of steroid hormones in the NF1 phenotype: Focus on pregnancy
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
[18F]2-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) as a diagnostic tool for neurofibromatosis 1 (NF1) associated malignant peripheral nerve sheath tumours (MPNSTs):: a long-term clinical study
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ANNALS OF ONCOLOGY (2008)
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Germline and somaticNF1gene mutations in plexiform neurofibromas
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HUMAN MUTATION (2008)
Impact of neurofibromatosis type 1 on school performance
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JOURNAL OF CHILD NEUROLOGY (2008)
Somatic mutation analysis in NF1 cafe au lait spots reveals two NF1 hits in the melanocytes
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Generalized metabolic bone disease in neurofibromatosis type I
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MOLECULAR GENETICS AND METABOLISM (2008)
Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1
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NEURO-ONCOLOGY (2008)
Unidentified bright objects on brain MRI in children as a diagnostic criterion for neurofibromatosis type 1
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Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysis
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PEDIATRIC RESEARCH (2008)
Clinical and molecular aspects of RAS related disorders
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JOURNAL OF MEDICAL GENETICS (2008)
Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types
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FAMILIAL CANCER (2007)
Visual outcome of a cohort of children with neurofibromatosis type 1 and optic pathway glioma followed by a pediatric neuro-oncology program
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Utility of 18 FDG positon emission tomography in detection of sarcomatous transformation in neurofibromatosis type I
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T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning
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Value of PET in the assessment of patients with neurofibromatosis type I
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AMERICAN JOURNAL OF ROENTGENOLOGY (2007)
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
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NATURE GENETICS (2007)
Bone mineral density in children with neurofibromatosis 1
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ACTA PAEDIATRICA (2007)
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
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Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1
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AMERICAN JOURNAL OF HUMAN GENETICS (2007)
The self-concept of children and adolescents with neurofibromatosis type 1
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Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1
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Multiple gastrointestinal stromal tumors and bilateral pheochromocytoma in neurofibromatosis
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Decreased bone mineral density in neurofibromatosis type I - Results from a pediatric cohort
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Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)
Role of maxillofacial surgery in patients with neurofibromatosis type I
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Treatment of pigmented lesions of neurofibromatosis 1 with intense pulsed-radio frequency in combination with topical application of vitamin D3 ointment
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Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
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Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1
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Optic pathway gliomas in neurofibromatosis-1: Controversies and recommendations
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ANNALS OF NEUROLOGY (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
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AMERICAN JOURNAL OF HUMAN GENETICS (2007)
A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene
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Prenatal diagnosis of neurofibromatosis type 1: sonographic and MRI findings
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Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder
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Molecular targets for emerging anti-tumor therapies for neurofibromatosis type 1
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Phase II trial of pirfenidone in adults with neurofibromatosis type 1
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Sudden cardiac death in young children with neurofibromatosis type 1
Ronald J. Kanter et al.
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Comprehensive NF1 screening on cultured Schwann cells from neurofibromas
Ophelia Maertens et al.
HUMAN MUTATION (2006)
Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1
M. Lammert et al.
JOURNAL OF MEDICAL GENETICS (2006)
Age-related findings on MRI in neurofibromatosis type 1
Deepak S. Gill et al.
PEDIATRIC RADIOLOGY (2006)
Somatic loss of wild type NF1 allele in neurofibromas:: Comparison of NF1 microdeletion and non-microdeletion patients
Thomas De Raedt et al.
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Impact of neurofibromatosis 1 on quality of life: A cross-sectional study of 176 American cases
Patricia Z. Page et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Somatic deletion of the NFI gene in a neurofibromatosis type I-associated malignant melanoma demonstrated by digital PCR
Albert Rubben et al.
MOLECULAR CANCER (2006)
Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies
Karen Stephens et al.
BLOOD (2006)
Academic impairment is the most frequent complication of neurofibromatosis type-1 (NF1) in children
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Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1
Anna Graf et al.
JOURNAL OF PEDIATRICS (2006)
Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1
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A prospective study of neurofibromatosis type 1 cancer incidence in the UK
L. Walker et al.
BRITISH JOURNAL OF CANCER (2006)
Neurofibromin:: a general outlook
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CLINICAL GENETICS (2006)
Double inactivation of NF1 in tibial pseudarthrosis
DA Stevenson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Second primary tumors in neurofibromatosis I patients treated for optic glioma: Substantial risks after radiotherapy
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JOURNAL OF CLINICAL ONCOLOGY (2006)
Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke
SC Tang et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2006)
Radiofrequency in the treatment of craniofacial plexiform neurofibromatosis: A pilot study
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Spectrum of single- and multiexon NFI copy number changes in a cohort of 1,100 unselected NFI patients
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GENES CHROMOSOMES & CANCER (2006)
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype
DA Stevenson et al.
CLINICAL GENETICS (2006)
MRI growth patterns of plexiform neurofibromas in patients with neurofibromatosis type 1
VF Mautner et al.
NEURORADIOLOGY (2006)
Connective tissue dysplasia in five new patients with NF1 microdeletions:: further expansion of phenotype and review of the literature -: art. no. e8
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JOURNAL OF MEDICAL GENETICS (2006)
Multiple gostro-intestinal stromal tumors (GISI) in a patient with type I neurofibromotosis revealed by chronic bleeding: pre-operative radiological diagnosis
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GASTROENTEROLOGIE CLINIQUE ET BIOLOGIQUE (2006)
Phase I trial and pharmacokinetic study of the farnesyltransferase inhibitor tipifarnib in children with refractory solid tumors or neurofibromatosis type I and plexiform neurofibromas
BC Widemann et al.
JOURNAL OF CLINICAL ONCOLOGY (2006)
Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications
ON Gottfried et al.
NEUROSURGERY (2006)
Neuropsychological function in adults with von Recklinghausen's neurofibromatosis
Marykay Pavol et al.
DEVELOPMENTAL NEUROPSYCHOLOGY (2006)
Gastrointestinal stromal tumors in patients with neurofibromatosis 1 - A clinicopothologic and molecular genetic study of 45 cases
M Miettinen et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2006)
Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6
JR Ostergaard et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Brain morphometry, T2-weighted hyperintensities, and IQ in children with neurofibromatosis type 1
RS Greenwood et al.
ARCHIVES OF NEUROLOGY (2005)
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome
A De Luca et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
The nature and frequency of cognitive deficits in children with neurofibromatosis type 1
SL Hyman et al.
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An isochore transition zone in the NF1 gene region is a conserved landmark of chromosome structure and function
C Schmegner et al.
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NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic and genotypic characteristics
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Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1
C Consoli et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2005)
Decreased bone mineral density in patients with neurofibromatosis 1
M Lammert et al.
OSTEOPOROSIS INTERNATIONAL (2005)
Management of head and neck plexiform neurofibromas in pediatric patients with neurofibromatosis type 1
JB Wise et al.
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY (2005)
Decreased bone mineral density and content in neurofibromatosis type 1:: Lowest local values are located in the load-carrying parts of the body
T Kuorilehto et al.
OSTEOPOROSIS INTERNATIONAL (2005)
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DR Bertola et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Association between benign and malignant peripheral nerve sheath tumors in NF1
T Tucker et al.
NEUROLOGY (2005)
Symptoms associated with malignancy of peripheral nerve sheath tumours:: a retrospective study of 69 patients with neurofibromatosis 1
L Valeyrie-Allanore et al.
BRITISH JOURNAL OF DERMATOLOGY (2005)
Childhood overgrowth in patients with common NF1 microdeletions
M Spiegel et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
Neurofibromatosis type 1 - Spinal manifestations of a systemic disease
CS Restrepo et al.
JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY (2005)
Spinal deformity in neurofibromatosis type-1: diagnosis and treatment
AI Tsirikos et al.
EUROPEAN SPINE JOURNAL (2005)
Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen's disease)
Y Takazawa et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2005)
Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population -: Further support that PTPN22 is an autoimmunity gene
A Hinks et al.
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Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience
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CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2005)
Preimplantation genetic diagnosis for neurofibromatosis type 1
C Spits et al.
MOLECULAR HUMAN REPRODUCTION (2005)
Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?
S Alwan et al.
CLINICAL GENETICS (2005)
Ruptured aneurysm of the subclavian artery in a patient with von Recklinghausen's disease
S Tatebe et al.
CIRCULATION JOURNAL (2005)
Frequency of incidental intracranial aneurysms in neurofibromatosis type 1
WI Schievink et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Psychological disturbance and sleep disorders in children with neurofibrornatosis type 1
H Johnson et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2005)
Superficial neurofibroma: A lesion with unique MRI characteristics in patients with neurofibromatosis type 1
R Lim et al.
AMERICAN JOURNAL OF ROENTGENOLOGY (2005)
Renal artery stenosis and aneurysms associated with neurofibromatosis
M Han et al.
JOURNAL OF VASCULAR SURGERY (2005)
Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1
TL Rosser et al.
NEUROLOGY (2005)
A series of 397 peripheral neural sheath tumors: 30-year experience at Louisiana State University Health Sciences Center
DH Kim et al.
JOURNAL OF NEUROSURGERY (2005)
Ophthalmological manifestations in VHL and NF 1: pathological and diagnostic implications
KM Kreusel
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Blood pressure and cardiovascular involvement in children with neurofibromatosis type1
G Lama et al.
PEDIATRIC NEPHROLOGY (2004)
Neurofibromatosis type 1 and optic pathway gliomas - Follow-up of 54 patients
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OPHTHALMOLOGY (2004)
Genetic and clinical mosaicism in a patient with neurofibromatosis type 1
I Vandenbroucke et al.
HUMAN GENETICS (2004)
Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation
S Gallinger et al.
GASTROENTEROLOGY (2004)
Neurofibromatosis 1-associated neuropathies:: a reappraisal
A Drouet et al.
BRAIN (2004)
Social skills of children with neurofibromatosis type 1
B Barton et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2004)
HNPCC mutation MLHI P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1
TE Raevaara et al.
GENES CHROMOSOMES & CANCER (2004)
Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2
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JOURNAL OF MEDICAL GENETICS (2004)
Outcomes of systematic screening for optic pathway tumors in children with Neurofibromatosis Type 1
MA Blazo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)
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JOURNAL OF MEDICAL GENETICS (2004)
Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients
S Frahm et al.
NEUROBIOLOGY OF DISEASE (2004)
Familial segmental neurofibromatosis
S Oguzkan et al.
JOURNAL OF CHILD NEUROLOGY (2004)
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors
M Upadhyaya et al.
HUMAN MUTATION (2004)
Screening 500 unselected neuroflibromatosis 1 patients for deletions of the NF1 gene
L Kluwe et al.
HUMAN MUTATION (2004)
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R Feldmann et al.
NEUROLOGY (2003)
Molecular analysis of astrocytomas presenting after age 10 in individuals with NF1
DH Gutmann et al.
NEUROLOGY (2003)
Preliminary observations on genetic alterations in pilocytic astrocytomas associated with neurofibromatosis 1
K Tada et al.
NEURO-ONCOLOGY (2003)
Optic pathway gliomas in neurofibromatosis type 1: The effect of presenting symptoms on outcome
A King et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Segmental neurofibromatosis in childhood
R Listernick et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients -: art. no. e82
E Ars et al.
JOURNAL OF MEDICAL GENETICS (2003)
NF1 mutations and clinical spectrum in patients with spinal neurofibromas
L Kluwe et al.
JOURNAL OF MEDICAL GENETICS (2003)
Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1
SL Hyman et al.
NEUROLOGY (2003)
Personality profiles of children and adolescents with neurofibromatosis type 1
P Prinzie et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Cognitive impairment in adults with neurofibromatosis type 1
I Uttner et al.
FORTSCHRITTE DER NEUROLOGIE PSYCHIATRIE (2003)
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1
M Upadhyaya et al.
HUMAN GENETICS (2003)
Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1)
J Szudek et al.
GENETIC EPIDEMIOLOGY (2002)
Intracranial neoplasms in children with neurofibromatosis 1
T Rosser et al.
JOURNAL OF CHILD NEUROLOGY (2002)
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)
Guidelines for the management of neurofibromatosis 1.
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ARCHIVES DE PEDIATRIE (2002)
Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene
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AMERICAN JOURNAL OF HUMAN GENETICS (2001)
The clinical and diagnostic implications of mosaicism in the neurofibromatoses
M Ruggieri et al.
NEUROLOGY (2001)
Arterial distensibility and ambulatory blood pressure monitoring in young patients with neurofibromatosis type 1
MA Tedesco et al.
AMERICAN JOURNAL OF HYPERTENSION (2001)
Mortality in neurofibromatosis 1: An analysis using US death certificates
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AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Growth in North American white children with neurofibromatosis 1 (NF1)
J Szudek et al.
JOURNAL OF MEDICAL GENETICS (2000)
Use of unidentified bright objects on MRI for diagnosis of neurofibromatosis 1 in children.
RG Curless
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An isochore transition in the NF1 gene region coincides with a switch in the extent of linkage disequilibrium
I Eisenbarth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas
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BRITISH JOURNAL OF DERMATOLOGY (2000)
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HUMAN MOLECULAR GENETICS (2000)
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JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2000)
NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes
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AMERICAN JOURNAL OF HUMAN GENETICS (2000)
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