Neurofibromatosis type 1

Medicinska genetika obilježena je dinamicnom izmjenom informacija i stalnom usložavanju problema zahvaljujuci velikom znanstveno- tehnoloskom napredku medicine. Zato je prepoznavanje i dijagnosticiranje bolesti uzrokovanih poremecajima kromosoma/gena danas znatno obimnije nego prijasnjih desetljeca pa su tako postale dio svakodnevnog razmisljanja strucnjaka razlicitih profila koji dolaze u dodir s bolesnicima i njihovim obiteljima. Namjera nam je bila pokazati raznolikost medicinske/klinicke genetike unutar istaknutih specijalnosti koje su najtjesnje povezane s procesom genetickog informiranja. Kako ce proci jos podosta vremena prije nego li ce se u Republici Hrvatskoj doskolovati prvi specijalisti samostalne specijalizacije klinicke/medicinske genetike, smatrale smo da ce studentima i lijecnicima, specijalistima raznih podrucja medicine, „dobro doci“ knjiga u kojoj se na razlicite nacine razmatra geneticko informiranje bolesnika i clanova njihovih obitelji. Ova je knjiga osmisljena na takav nacin. Citateljima je izložena sva složenost genetickog informiranja, a pravo bogatstvo rjesenja nudi timski pristup, ne bolesti, vec bolesnicima. Suocavanje s razlicitim pogledima, profesionalnim usmjerenjima i senzibilitetom nudi dijalog, razmjenu teorijskih i prakticnih misljenja, gledista i stajalista cime umnaža vrijednost napora autora.

• Publication year

  2008

• Venue

  Nature Reviews Disease Primers

• Publication date

  2008-05-02

• Fields of study

  Not labeled

• Identifiers
  DOI 10.1007/978-3-642-32864-0PMID 28230149
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Health Supervision for Children With Neurofibromatosis Type 1

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• The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas

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• Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1

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• Adaptive functioning in children with neurofibromatosis type 1: relationship to cognition, behavior, and magnetic resonance imaging

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• Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes

  2018cited by this paper
• A porcine model of neurofibromatosis type 1 that mimics the human disease.

  2018cited by this paper
• Inhibition of mTORC1 in pediatric low-grade glioma depletes glutathione and therapeutically synergizes with carboplatin

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• The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors

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• Visual outcomes after chemotherapy for optic pathway glioma in children with and without neurofibromatosis type 1: results of the International Society of Paediatric Oncology (SIOP) Low-Grade Glioma 2004 trial UK cohort

  2018cited by this paper
• Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

  2018cited by this paper
• Neuropsychological profile in Italian children with neurofibromatosis type 1 (NF1) and their relationships with neuroradiological data: Preliminary results.

  2018cited by this paper
• 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

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• Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

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• Height Growth Impairment in Children With Neurofibromatosis Type 1 Is Characterized by Decreased Pubertal Growth Velocity in Both Sexes

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• A genotype–phenotype correlation for quantitative autistic trait burden in neurofibromatosis 1

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• Pediatric Brain Tumor Genetics: What Radiologists Need to Know.

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• Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1

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• Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients

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• Neurofibromatosis type 1.

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• Bone mineral density and bone metabolic markers’ status in children with neurofibromatosis type 1

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• Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1

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• Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

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• Neurofibromatosis Type 1–Associated MPNST State of the Science: Outlining a Research Agenda for the Future

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• Children with 5′-end NF1 gene mutations are more likely to have glioma

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• Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview.

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• Optic Pathway Gliomas in Neurofibromatosis Type 1: An Update: Surveillance, Treatment Indications, and Biomarkers of Vision.

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• Predicting neurofibromatosis type 1 risk among children with isolated café‐au‐lait macules

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• A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1

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• Clinical presentation and prognostic indicators in 100 adults and children with neurofibromatosis 1 associated non-optic pathway brain gliomas

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• Epilepsy in neurofibromatosis type 1.

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• Executive functioning deficits in children with neurofibromatosis type 1: The influence of intellectual and social functioning

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• Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).

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• Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1.

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• Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors

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• Overexpression of PDGFRA cooperates with loss of NF1 and p53 to accelerate the molecular pathogenesis of malignant peripheral nerve sheath tumors

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

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• Mosaic Neurofibromatosis Type 1: A Systematic Review

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• Spatially- and temporally-controlled postnatal p53 knockdown cooperates with embryonic Schwann cell precursor Nf1 gene loss to promote malignant peripheral nerve sheath tumor formation

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

  2015cited by this paper
• Rhabdomyosarcomas in children with neurofibromatosis type I: A national historical cohort

  2015cited by this paper
• Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis

  2015cited by this paper
• Comparative study of the ophthalmological examinations in neurofibromatosis type 1. Proposal for a new screening algorithm.

  2015cited by this paper
• Cognition in children with neurofibromatosis type 1: data from a population‐based study

  2015cited by this paper
• Neuroendocrine Morbidity After Pediatric Optic Gliomas: A Longitudinal Analysis of 166 Children Over 30 Years.

  2015cited by this paper
• Mortality in Children with Optic Pathway Glioma Treated with Up-Front BB-SFOP Chemotherapy

  2015cited by this paper
• The role of microglia and macrophages in glioma maintenance and progression

  2015cited by this paper
• High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

  2015cited by this paper
• Incidence and mortality of neurofibromatosis: a total population study in Finland.

  2015cited by this paper
• Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1

  2015cited by this paper
• Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population

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• Special feature Clinical Practice Guideline on Diagnosis and Treatment of Hyponatraemia

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• Age-specific risk of breast cancer in women with neurofibromatosis type 1

  2015cited by this paper
• Vascular endothelial growth factor, basic fibroblast growth factor and epithelial growth factor receptor in peripheral nerve sheath tumors of neurofibromatosis type 1.

  2015cited by this paper
• Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

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

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• Marked recovery of vision in children with optic pathway gliomas treated with bevacizumab.

  2014cited by this paper
• p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

  2014cited by this paper
• Planning Deficit in Children With Neurofibromatosis Type 1

  2014cited by this paper
• Neurofibromatosis type 1 associated with moyamoya syndrome in children.

  2014cited by this paper
• Preclinical evaluation of the combination of mTOR and proteasome inhibitors with radiotherapy in malignant peripheral nerve sheath tumors

  2014cited by this paper
• Sex Is a major determinant of neuronal dysfunction in neurofibromatosis type 1

  2014cited by this paper
• The role of surgery in optic pathway/hypothalamic gliomas in children.

  2014cited by this paper
• Is Executive Function Specifically Impaired in Children With Neurofibromatosis Type 1? A Neuropsychological Investigation of Cognitive Flexibility

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

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• Phase II trial of pirfenidone in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas

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• Phase II study of sorafenib in children with recurrent or progressive low-grade astrocytomas.

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• Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation.

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• Neurofibromatosis type 1: a multidisciplinary approach to care.

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

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• Glomus tumors in individuals with neurofibromatosis type 1.

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• The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial

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• 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.

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• PRC2 is recurrently inactivated through EED or SUZ12 loss in malignant peripheral nerve sheath tumors

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• Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1

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• Longitudinal Analysis of Developmental Delays in Children With Neurofibromatosis Type 1

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• Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population‐based study

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

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• NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience

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• Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

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• Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma.

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• 18‐fluorodeoxyglucose‐positron emission tomography (FDG‐PET) evaluation of nodular lesions in patients with neurofibromatosis type 1 and plexiform neurofibromas (PN) or malignant peripheral nerve sheath tumors (MPNST)

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• Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

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• Height Assessments in Children With Neurofibromatosis Type 1

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• Dopamine deficiency underlies learning deficits in neurofibromatosis‐1 mice

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• The RASopathies.

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• Epilepsy in individuals with neurofibromatosis type 1

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• Spinal Neurofibromatosis with Central Nervous System Involvement in a Set of Twin Girls and a Boy: Further Expansion of the Phenotype

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• Prevalence of Sleep Disturbances in Children With Neurofibromatosis Type 1

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

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• Attention Skills in Children With Neurofibromatosis Type 1

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• Correlation Between MRI Findings and Histological Diagnosis of Brainstem Glioma

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• Phase I trial and pharmacokinetic study of sorafenib in children with neurofibromatosis type I and plexiform neurofibromas

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• Spectrum and Prevalence of Vasculopathy in Pediatric Neurofibromatosis Type 1

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• A multi-disciplinary consensus statement concerning surgical approaches to low-grade, high-grade astrocytomas and diffuse intrinsic pontine gliomas in childhood (CPN Paris 2011) using the Delphi method.

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• Cerebral Vasculopathy in Children With Neurofibromatosis Type 1

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• Cardiac characterization of 16 patients with large NF1 gene deletions

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• Adaptive Behavior in Young Children with Neurofibromatosis Type 1

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• Malignant Peripheral Nerve Sheath Tumors (MPNST): The Mayo Clinic Experience

  2012cited by this paper

• NF1 with Multiple Cardiac Structural Abnormalities Leading to Cerebral Infarction

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• Comparison of rule- and large language model-based phenotype extraction from clinical notes for neurofibromatosis type 1

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• Inhibition of Cxcr4 chemokine receptor signaling improves habituation learning and increases cAMP-PKA signaling in a zebrafish model of Neurofibromatosis type 1

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