Works matching DE "NEUROFIBROMATOSIS 1"
Results: 1795
Coordinated medical care program for neurofibromatosis type 1 children and youth in Poland influences the future of their affected parents as well — a single academic reference center experience and national program description.
- Published in:
- Nowotwory, 2025, v. 75, n. 1, p. 19, doi. 10.5603/njo.103614
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- Article
NELL2 - PAX7 Transcriptional Cascade Suggests Activation Mechanism for RAD52 -Dependent Alternative Lengthening of Telomeres During Malignant Transformation of Malignant Peripheral Nerve Sheath Tumors: Elongation of Telomeres and Poor Survival.
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- Biomedicines, 2025, v. 13, n. 2, p. 281, doi. 10.3390/biomedicines13020281
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- Article
Successful Treatment of MEK Inhibitor-Induced Paronychia in Neurofibromatosis with Photodynamic Therapy: A Case Report and Review of the Therapeutic Options.
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- Journal of Clinical Medicine, 2025, v. 14, n. 4, p. 1104, doi. 10.3390/jcm14041104
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- Article
Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1.
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- Malaysian Journal of Medical Sciences, 2017, v. 24, n. 1, p. 117, doi. 10.21315/mjms2017.24.1.13
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- Article
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
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- Cardiovascular Drugs & Therapy, 2023, v. 37, n. 6, p. 1193, doi. 10.1007/s10557-022-07324-0
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- Article
Clinical outcomes of anterior correction and reconstruction for neurofibromatosis-associated severe cervical kyphotic deformity.
- Published in:
- 2019
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- Publication type:
- journal article
Incidence and risk factors for the misplacement of pedicle screws in scoliosis surgery assisted by O-arm navigation-analysis of a large series of one thousand, one hundred and forty five screws.
- Published in:
- 2017
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- Publication type:
- journal article
Management of congenital pseudarthrosis of the tibia with the Ilizarov method in a paediatric population: influence of aetiological factors.
- Published in:
- 2016
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- Publication type:
- journal article
Effectiveness of recombinant human bone morphogenetic protein-7 in the management of congenital pseudoarthrosis of the tibia: a randomised controlled trial.
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- International Orthopaedics, 2014, v. 38, n. 9, p. 1987, doi. 10.1007/s00264-014-2361-7
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- Article
Hybrid tumors with perineurioma components: a systematic review of the literature and illustrative case.
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- Acta Neurochirurgica, 2023, v. 165, n. 4, p. 935, doi. 10.1007/s00701-022-05413-5
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- Publication type:
- Article
Postcentral gyrus resection of opercular gliomas is a risk factor for motor deficits caused by damaging the radiologically invisible arteries supplying the descending motor pathway.
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- Acta Neurochirurgica, 2021, v. 163, n. 5, p. 1269, doi. 10.1007/s00701-021-04737-y
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- Publication type:
- Article
VNS implantation in a NF1 patient: massive nerve hypertrophy discovered intra-operatively preventing successful electrode placement. Case report.
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- Acta Neurochirurgica, 2020, v. 162, n. 10, p. 2509, doi. 10.1007/s00701-020-04535-y
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- Publication type:
- Article
Association of intraneural perineurioma with neurofibromatosis type 2.
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- Acta Neurochirurgica, 2020, v. 162, n. 8, p. 1891, doi. 10.1007/s00701-020-04439-x
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- Article
Gastrointestinal Symptoms in Children and Adolescents With Neurofibromatosis Type 1.
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- 2018
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- Publication type:
- journal article
A Rare Tumor in a Patient with Neurofibromatosis Type 1: Humerus Osteosarcoma.
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- Türkiye Klinikleri Journal of Case Reports, 2021, v. 29, n. 4, p. 251, doi. 10.5336/caserep.2021-82801
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- Publication type:
- Article
Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group.
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- Clinical Pathology, 2020, p. 1, doi. 10.1177/2632010X20928930
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- Article
Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group.
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- Clinical Pathology, 2020, p. 1, doi. 10.1177/2632010X20928930
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- Publication type:
- Article
Primary pilocytic astrocytoma of the cerebellopontine angle in pediatric patient with neurofibromatosis type 1: a case report.
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- Egyptian Journal of Neurosurgery, 2022, v. 37, n. 1, p. 1, doi. 10.1186/s41984-022-00168-8
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- Article
Mandibular Brown Tumor Revealing Hyperparathyroidism in a Patient With Neurofibromatosis Type I: Case Report.
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- 2023
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- Publication type:
- Case Study
Two-Year Local and Distant Control of Malignant Peripheral Nerve Sheath Tumor (MPNST) in NF1 Patients after Multiple Recurrences: A Case Report.
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- 2024
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- Publication type:
- Case Study
Breast Cancer in Teenager with Neurofibromatosis 1.
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- Case Reports in Clinical Practice, 2024, v. 9, n. 1, p. 39
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- Article
Simultaneous Presentation of Cerebellopontine Angle Pleomorphic Xanthoastrocytoma and Malignant Melanoma in a Known Case of Neurofibromatosis 1; Probable Role of BRAF Gene: A Case Report and Review of Literature.
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- International Journal of Cancer Management, 2017, v. 10, n. 7, p. 1, doi. 10.5812/ijcm.7211
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- Publication type:
- Article
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
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- Human Genetics, 2023, v. 142, n. 7, p. 849, doi. 10.1007/s00439-023-02555-z
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- Article
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
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- Human Genetics, 2023, v. 142, n. 1, p. 1, doi. 10.1007/s00439-022-02476-3
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- Publication type:
- Article
Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.
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- Human Genetics, 2022, v. 141, n. 8, p. 1371, doi. 10.1007/s00439-021-02429-2
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- Publication type:
- Article
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants.
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- Human Genetics, 2022, v. 141, n. 2, p. 177, doi. 10.1007/s00439-021-02410-z
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- Publication type:
- Article
Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.
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- Human Genetics, 2019, v. 138, n. 1, p. 73, doi. 10.1007/s00439-018-1961-5
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- Article
Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.
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- Human Genetics, 2018, v. 137, n. 5, p. 365, doi. 10.1007/s00439-018-1888-x
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- Publication type:
- Article
Identification of an atypical microdeletion generating the RNF135- SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.
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- Human Genetics, 2017, v. 136, n. 10, p. 1329, doi. 10.1007/s00439-017-1832-5
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- Article
Neurofibromatosis type 1 system-based manifestations and treatments: a review.
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- Neurological Sciences, 2023, v. 44, n. 6, p. 1931, doi. 10.1007/s10072-023-06680-5
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- Publication type:
- Article
Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.
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- Neurological Sciences, 2021, v. 42, n. 5, p. 2045, doi. 10.1007/s10072-020-04988-0
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- Article
Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome.
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- Neurological Sciences, 2021, v. 42, n. 2, p. 655, doi. 10.1007/s10072-020-04574-4
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- Article
Neurological manifestations of neurofibromatosis: a review.
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- 2020
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- Publication type:
- journal article
Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2.
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- 2019
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- Publication type:
- Letter
Clinical, radiological features and surgical strategies for 23 NF1 patients with intraorbital meningoencephalocele.
- Published in:
- 2019
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- Publication type:
- journal article
Intracranial arterial dolichoectasia and superficial siderosis associated to neurofibromatosis type 1: report of one case.
- Published in:
- 2018
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- Publication type:
- Case Study
Central nervous system lymphoma occurring in a patient with neurofibromatosis type 1 (von Recklinghausen disease).
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- Neurological Sciences, 2012, v. 33, n. 6, p. 1429, doi. 10.1007/s10072-011-0886-8
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- Publication type:
- Article
Pain, skin sensations symptoms, and cognitive functioning predictors of health-related quality of life in pediatric patients with Neurofibromatosis Type 1.
- Published in:
- 2019
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- Publication type:
- journal article
An Unusual Presentation of Neurotized Congenital Giant Melanocytic Nevus and Type 1 Neurofibromatosis: A Diagnostic Challenge.
- Published in:
- 2022
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- Publication type:
- Case Study
Inner retinal layer thickness alterations in adult and pediatric patients with neurofibromatosis 1.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-71832-2
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- Publication type:
- Article
The Neuroimmune Regulation and Potential Therapeutic Strategies of Optic Pathway Glioma.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 10, p. 1424, doi. 10.3390/brainsci13101424
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- Publication type:
- Article
Integrated Drug Mining Reveals Actionable Strategies Inhibiting Plexiform Neurofibromas.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 6, p. 720, doi. 10.3390/brainsci12060720
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- Publication type:
- Article
Dissociated Deficits between Explicit and Implicit Empathetic Pain Perception in Neurofibromatosis Type 1.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 12, p. 1591, doi. 10.3390/brainsci11121591
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- Publication type:
- Article
Peritumoral Microenvironment in High-Grade Gliomas: From FLAIRectomy to Microglia–Glioma Cross-Talk.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 200, doi. 10.3390/brainsci11020200
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- Publication type:
- Article
A Rare Case of Cardiac Neurofibroma in a Patient with Neurofibromatosis Type 1: Radiologic Findings.
- Published in:
- 2021
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- Publication type:
- Case Study
Bilateral Breast Cancer in a Patient with Neurofibromatosis Type 1: A Case Report.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Multiple Solid Pilocytic Astrocytomas in Cerebellum with Neurofibromatosis Type I: A Case Report.
- Published in:
- 2014
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- Publication type:
- Case Study
Fashionably Late Imaging: The use of delayed imaging for the diagnosis/confirmation of malignant peripheral nerve sheath tumours in patients with neurofibromatosis type 1.
- Published in:
- 2018
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- Publication type:
- Case Study
EP22.19: Pelvic neurofibroma in a patient with Von Recklinghausen disease: a case report.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 323, doi. 10.1002/uog.28908
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- Publication type:
- Article
Transperineal sonographic findings of vulvar neurofibromatosis Type 1.
- Published in:
- 2017
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- Publication type:
- Case Study