Neurofibromatosis type 1

Acceptance and commitment therapy in youth with neurofibromatosis type 1 (NF1) and chronic pain and their parents: A pilot study of feasibility and preliminary efficacy

(2016) Staci Martin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort

(2016) Gaelle Blanchard et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

NF1germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1

(2016) Joseph A. Toonen et al.   HUMAN MOLECULAR GENETICS

Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1

(2016) Elina Uusitalo et al.   JOURNAL OF CLINICAL ONCOLOGY

Estrogen activation of microglia underlies the sexually dimorphic differences inNf1optic glioma–induced retinal pathology

(2016) Joseph A. Toonen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1

(2016) Jonathan M. Payne et al.   NEUROLOGY

Activity of Selumetinib in Neurofibromatosis Type 1–Related Plexiform Neurofibromas

(2016) Eva Dombi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1

(2016) Stephanie M. Morris et al.   JAMA Psychiatry

A randomized placebo-controlled lovastatin trial for neurobehavioral function in neurofibromatosis I

(2016) Carrie E. Bearden et al.   Annals of Clinical and Translational Neurology

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

(2016) D.G. Evans et al.   EBioMedicine

Prevalence and clinical presentation of headache in a National Neurofibromatosis 1 Service and impact on quality of life

(2015) Shazia K. Afridi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pain interference in youth with neurofibromatosis type 1 and plexiform neurofibromas and relation to disease severity, social-emotional functioning, and quality of life

(2015) Pamela L. Wolters et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life

(2015) J.S. Cohen et al.   CLINICAL GENETICS

Improving outcomes for neurofibromatosis 1–associated brain tumors

(2015) Nicole M Brossier et al.   Expert Review of Anticancer Therapy

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

(2015) Kitiwan Rojnueangnit et al.   HUMAN MUTATION

The Impact of Neurofibromatosis Type 1 on the Health and Wellbeing of Australian Adults

(2015) Hilda A. Crawford et al.   Journal of Genetic Counseling

Incidence and Mortality of Neurofibromatosis: A Total Population Study in Finland

(2015) Elina Uusitalo et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Quality of life among children and adolescents with neurofibromatosis 1: a systematic review of the literature

(2015) Ana-Maria Vranceanu et al.   JOURNAL OF NEURO-ONCOLOGY

The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1

(2015) Carlos E. Prada et al.   JOURNAL OF PEDIATRICS

HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1

(2015) A Omrani et al.   MOLECULAR PSYCHIATRY

Increased Risk of Cerebrovascular Disease Among Patients With Neurofibromatosis Type 1

(2015) Anna R. Terry et al.   STROKE

Mouse Low-Grade Gliomas Contain Cancer Stem Cells with Unique Molecular and Functional Properties

(2015) Yi-Hsien Chen et al.   Cell Reports

RNA Sequencing of Tumor-Associated Microglia Reveals Ccl5 as a Stromal Chemokine Critical for Neurofibromatosis-1 Glioma Growth

(2015) Anne C. Solga et al.   NEOPLASIA

Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis

(2014) Vanessa L. Merker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reply

(2014) Kelly A. Diggs-Andrews et al.   ANNALS OF NEUROLOGY

Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma

(2014) Michael J. Fisher et al.   ANNALS OF NEUROLOGY

Cells of Origin in the Embryonic Nerve Roots for NF1-Associated Plexiform Neurofibroma

(2014) Zhiguo Chen et al.   CANCER CELL

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

(2014) M. Ruggieri et al.   CLINICAL GENETICS

Diagnosis and Management of Pheochromocytoma: A Practical Guide to Clinicians

(2014) Joseph M. Pappachan et al.   CURRENT HYPERTENSION REPORTS

Parental age and Neurofibromatosis Type 1: a report from the NF1 Patient Registry Initiative

(2014) Qian Liu et al.   Familial Cancer

Neurofibromatosis type 1 and chronic neurological conditions in the United States: an administrative claims analysis

(2014) Chinwe C. Madubata et al.   GENETICS IN MEDICINE

Neuronal NF1/RAS regulation of cyclic AMP requires atypical PKC activation

(2014) Corina Anastasaki et al.   HUMAN MOLECULAR GENETICS

The relaxation response resiliency program (3RP) in patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis: results from a pilot study

(2014) Ana-Maria Vranceanu et al.   JOURNAL OF NEURO-ONCOLOGY

Neurofibromatosis type 1: a multidisciplinary approach to care

(2014) Angela C Hirbe et al.   LANCET NEUROLOGY

Recurrent point mutations in the kinetochore gene KNSTRN in cutaneous squamous cell carcinoma

(2014) Carolyn S Lee et al.   NATURE GENETICS

Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1

(2014) Jean de la Croix Ndong et al.   NATURE MEDICINE

Social learning and amygdala disruptions in Nf1 mice are rescued by blocking p21-activated kinase

(2014) Andrei I Molosh et al.   NATURE NEUROSCIENCE

The impact of coexisting genetic mutations on murine optic glioma biology

(2014) Aparna Kaul et al.   NEURO-ONCOLOGY

Phase 2 randomized, flexible crossover, double-blinded, placebo-controlled trial of the farnesyltransferase inhibitor tipifarnib in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas

(2014) B. C. Widemann et al.   NEURO-ONCOLOGY

Akt- or MEK-mediated mTOR inhibition suppresses Nf1 optic glioma growth

(2014) Aparna Kaul et al.   NEURO-ONCOLOGY

Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a Neurofibromatosis Clinical Trials Consortium phase II study

(2014) B. Weiss et al.   NEURO-ONCOLOGY

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

(2014) M. J. Smith et al.   NEUROLOGY

Neurofibromatosis 1 vasculopathy manifesting as a peripheral aneurysm in an adolescent

(2014) Shannon G. Farmakis et al.   PEDIATRIC RADIOLOGY

Sirolimus Improves Pain in NF1 Patients With Severe Plexiform Neurofibromas

(2014) C. Hua et al.   PEDIATRICS

Long-term Cre-mediated retrograde tagging of neurons using a novel recombinant pseudorabies virus

(2014) Hassana K. Oyibo et al.   Frontiers in Neuroanatomy

Sleep disturbance as part of the neurofibromatosis type 1 phenotype in adults

(2013) Guy D. Leschziner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sex Is a major determinant of neuronal dysfunction in neurofibromatosis type 1

(2013) Kelly A. Diggs-Andrews et al.   ANNALS OF NEUROLOGY

CXCR4/CXCL12 Mediate Autocrine Cell- Cycle Progression in NF1-Associated Malignant Peripheral Nerve Sheath Tumors

(2013) Wei Mo et al.   CELL

Epilepsy in individuals with neurofibromatosis type 1

(2013) Adam P. Ostendorf et al.   EPILEPSIA

Optimizing biologically targeted clinical trials for neurofibromatosis

(2013) David H Gutmann et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Development of the Adult PedsQL™ Neurofibromatosis Type 1 Module: Initial Feasibility, Reliability and Validity

(2013) Kavitha Nutakki et al.   Health and Quality of Life Outcomes

Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice

(2013) Richa Sharma et al.   HUMAN MOLECULAR GENETICS

Prevalence of Sleep Disturbances in Children With Neurofibromatosis Type 1

(2013) Amy K. Licis et al.   JOURNAL OF CHILD NEUROLOGY

Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature

(2013) Ana-Maria Vranceanu et al.   JOURNAL OF NEURO-ONCOLOGY

Moyamoya syndrome associated with neurofibromatosis Type 1: perioperative and long-term outcome after surgical revascularization

(2013) McKenzie Koss et al.   Journal of Neurosurgery-Pediatrics

Approaches to Treating NF1 Tibial Pseudarthrosis

(2013) David A. Stevenson et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Gastrointestinal stromal tumour

(2013) Heikki Joensuu et al.   LANCET

Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial

(2013) Thijs van der Vaart et al.   LANCET NEUROLOGY

Advances in the treatment of neurofibromatosis-associated tumours

(2013) Andrew L. Lin et al.   Nature Reviews Clinical Oncology

Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials

(2013) P. L. Wolters et al.   NEUROLOGY

Achieving consensus for clinical trials: The REiNS International Collaboration

(2013) S. R. Plotkin et al.   NEUROLOGY

Sirolimus for non-progressive NF1-associated plexiform neurofibromas: An NF clinical trials consortium phase II study

(2013) Brian Weiss et al.   PEDIATRIC BLOOD & CANCER

Neurofibromatosis Type 1 and Autism Spectrum Disorder

(2013) S. Garg et al.   PEDIATRICS

Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition

(2012) Carlos E. Prada et al.   ACTA NEUROPATHOLOGICA

The importance of advanced parental age in the origin of neurofibromatosis type 1

(2012) Marta Snajderova et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Increased risk of breast cancer in women with NF1

(2012) Sara Aileen Madanikia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dopamine deficiency underlies learning deficits in neurofibromatosis-1 mice

(2012) Kelly A. Diggs-Andrews et al.   ANNALS OF NEUROLOGY

Reduced microglial CX3CR1 expression delays neurofibromatosis-1 glioma formation

(2012) Winnie W. Pong et al.   ANNALS OF NEUROLOGY

Risk of benign tumours of nervous system and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study

(2012) O O Seminog et al.   BRITISH JOURNAL OF CANCER

Innate Neural Stem Cell Heterogeneity Determines the Patterning of Glioma Formation in Children

(2012) Da Yong Lee et al.   CANCER CELL

PTEN and NF1 Inactivation in Schwann Cells Produces a Severe Phenotype in the Peripheral Nervous System That Promotes the Development and Malignant Progression of Peripheral Nerve Sheath Tumors

(2012) V. W. Keng et al.   CANCER RESEARCH

Psychological Burden in Adult Neurofibromatosis Type 1 Patients: Impact of Disease Visibility on Body Image

(2012) Sofia Granström et al.   DERMATOLOGY

The adverse influence of attention-deficit disorder with or without hyperactivity on cognition in neurofibromatosis type 1

(2012) KAREN LIDZBA et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma

(2012) D. H. Gutmann et al.   GENOME RESEARCH

Impact of ADHD in Adults With Neurofibromatosis Type 1

(2012) Victor-Felix Mautner et al.   Journal of Attention Disorders

A controlled register-based study of 460 neurofibromatosis 1 patients: Increased fracture risk in children and adults over 41 years of age

(2012) Eetu Heervä et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Attention Skills in Children With Neurofibromatosis Type 1

(2012) Jill C. Isenberg et al.   JOURNAL OF CHILD NEUROLOGY

MEK inhibition exhibits efficacy in human and mouse neurofibromatosis tumors

(2012) Walter J. Jessen et al.   JOURNAL OF CLINICAL INVESTIGATION

Imatinib mesylate for plexiform neurofibromas in patients with neurofibromatosis type 1: a phase 2 trial

(2012) Kent A Robertson et al.   LANCET ONCOLOGY

Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis

(2012) M. J. Fisher et al.   NEURO-ONCOLOGY

Chronic inhibition of mammalian target of rapamycin by rapamycin modulates cognitive and non-cognitive components of behavior throughout lifespan in mice

(2012) J. Halloran et al.   NEUROSCIENCE

c-Fms Signaling Mediates Neurofibromatosis Type-1 Osteoclast Gain-In-Functions

(2012) Yongzheng He et al.   PLoS One

The Development of Cutaneous Neurofibromas

(2011) Eeva-Mari Jouhilahti et al.   AMERICAN JOURNAL OF PATHOLOGY

Perinatal or Adult Nf1 Inactivation Using Tamoxifen-Inducible PlpCre Each Cause Neurofibroma Formation

(2011) D. A. Mayes et al.   CANCER RESEARCH

Susceptible Stages in Schwann Cells for NF1-Associated Plexiform Neurofibroma Development

(2011) L. Q. Le et al.   CANCER RESEARCH

Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989

(2011) D Gareth R Evans et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

(2011) Eline Beert et al.   GENES CHROMOSOMES & CANCER

Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I

(2011) Weixi Wang et al.   HUMAN MOLECULAR GENETICS

Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

(2011) Tu Duong et al.   Orphanet Journal of Rare Diseases

Mortality associated with neurofibromatosis type 1: A study based on Italian death certificates (1995-2006)

(2011) Maria Masocco et al.   Orphanet Journal of Rare Diseases

Preclincial testing of Sorafenib and RAD001 in the Nfflox/flox;DhhCre mouse model of plexiform neurofibroma using magnetic resonance imaging

(2011) Jianqiang Wu et al.   PEDIATRIC BLOOD & CANCER

Neurofibromatosis-1 regulates mTOR-mediated astrocyte growth and glioma formation in a TSC/Rheb-independent manner

(2011) S. Banerjee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

First-line chemotherapy for malignant peripheral nerve sheath tumor (MPNST) versus other histological soft tissue sarcoma subtypes and as a prognostic factor for MPNST: an EORTC Soft Tissue and Bone Sarcoma Group study

(2010) J. R. Kroep et al.   ANNALS OF ONCOLOGY

Analysis of steroid hormone effects on xenografted human NF1 tumor schwann cells

(2010) Hua Li et al.   CANCER BIOLOGY & THERAPY

Neurofibromatosis-1 regulates neuroglial progenitor proliferation and glial differentiation in a brain region-specific manner

(2010) D. Y. Lee et al.   GENES & DEVELOPMENT

Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice

(2010) Jacquelyn A. Brown et al.   HUMAN MOLECULAR GENETICS

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

(2010) Eric Pasmant et al.   HUMAN MUTATION

Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1

(2010) D. R. Stewart et al.   JOURNAL OF MEDICAL GENETICS

Neurofibromatosis-1 Heterozygosity Increases Microglia in a Spatially and Temporally Restricted Pattern Relevant to Mouse Optic Glioma Formation and Growth

(2010) Grant W. Simmons et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Defective cAMP Generation Underlies the Sensitivity of CNS Neurons to Neurofibromatosis-1 Heterozygosity

(2010) J. A. Brown et al.   JOURNAL OF NEUROSCIENCE

Cutaneous Xanthogranulomas, Hepatosplenomegaly, Anemia, and Thrombocytopenia as Presenting Signs of Juvenile Myelomonocytic Leukemia

(2009) Elaine Cham et al.   AMERICAN JOURNAL OF CLINICAL DERMATOLOGY

Predictive Value of Café au Lait Macules at Initial Consultation in the Diagnosis of Neurofibromatosis Type 1

(2009) Kara S. Nunley et al.   ARCHIVES OF DERMATOLOGY

Cell of Origin and Microenvironment Contribution for NF1-Associated Dermal Neurofibromas

(2009) Lu Q. Le et al.   Cell Stem Cell

[18F]FDG PET/CT in the diagnosis of malignant peripheral nerve sheath tumours in neurofibromatosis type-1

(2009) Victoria S. Warbey et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

(2009) Ludwine Messiaen   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Optic Nerve Dysfunction in a Mouse Model of Neurofibromatosis-1 Optic Glioma

(2009) Balazs Hegedus et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

PTEN dosage is essential for neurofibroma development and malignant transformation

(2009) C. Gregorian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Impact of neurofibromatosis 1 upon quality of life in childhood: a cross-sectional study of 79 cases

(2008) P. Wolkenstein et al.   BRITISH JOURNAL OF DERMATOLOGY

Plexiform and Dermal Neurofibromas and Pigmentation Are Caused by Nf1 Loss in Desert Hedgehog-Expressing Cells

(2008) Jianqiang Wu et al.   CANCER CELL

The Loss of Nf1 Transiently Promotes Self-Renewal but Not Tumorigenesis by Neural Crest Stem Cells

(2008) Nancy M. Joseph et al.   CANCER CELL

Increased c-Jun-NH2-Kinase Signaling in Neurofibromatosis-1 Heterozygous Microglia Drives Microglia Activation and Promotes Optic Glioma Proliferation

(2008) G. C. Daginakatte et al.   CANCER RESEARCH

Preclinical Cancer Therapy in a Mouse Model of Neurofibromatosis-1 Optic Glioma

(2008) B. Hegedus et al.   CANCER RESEARCH

Nf1-Dependent Tumors Require a Microenvironment Containing Nf1+/−- and c-kit-Dependent Bone Marrow

(2008) Feng-Chun Yang et al.   CELL

Neurofibromin Regulation of ERK Signaling Modulates GABA Release and Learning

(2008) Yijun Cui et al.   CELL

Health-Related Quality of Life in Patients with Neurofibromatosis Type 1

(2008) Yllka Kodra et al.   DERMATOLOGY

Effect of Simvastatin on Cognitive Functioning in Children With Neurofibromatosis Type 1

(2008) Lianne C. Krab   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Health-Related Quality of Life in Children with Neurofibromatosis Type 1: Contribution of Demographic Factors, Disease-Related Factors, and Behavior

(2008) Lianne C. Krab et al.   JOURNAL OF PEDIATRICS

Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1

(2008) Victor-F. Mautner et al.   NEURO-ONCOLOGY

Health Supervision for Children With Neurofibromatosis

(2008) J. H. Hersh et al.   PEDIATRICS

Neurofibromin as a regulator of melanocyte development and differentiation

(2007) G. Diwakar et al.   JOURNAL OF CELL SCIENCE

Somatic Mutation Analysis in NF1 Café au lait Spots Reveals Two NF1 Hits in the Melanocytes

(2007) Sofie De Schepper et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY