Works matching Neurofibromatosis type 1 (NF1)
Results: 1628
Complex epileptic (Foix–Chavany–Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria.
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- Acta Paediatrica, 2009, v. 98, n. 4, p. 760, doi. 10.1111/j.1651-2227.2008.01183.x
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- Article
Neuropsychiatric Manifestations, Reduced Self-Esteem and Poor Quality of Life in Children and Adolescents with Neurofibromatosis Type 1 (NF1): The Impact of Symptom Visibility and Bullying Behavior.
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- Children, 2023, v. 10, n. 2, p. 330, doi. 10.3390/children10020330
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- Article
Genetic Counseling, Reproductive Behavior and Future Reproductive Intentions of People with Neurofibromatosis Type 1 (NF1).
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- Journal of Genetic Counseling, 1998, v. 7, n. 4, p. 331, doi. 10.1023/A:1022020000598
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- Article
Acute Deterioration of Pulmonary Arterial Hypertension (PAH) in a Patient with Neurofibromatosis Type 1 (NF1).
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- Case Reports in Cardiology, 2019, p. 1, doi. 10.1155/2019/2987461
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- Article
Molecular mechanisms of neurofibromatosis type 1 (NF1) clinical variability.
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- Anatomy: International Journal of Experimental & Clinical Anatomy, 2019, v. 13, n. S1, p. S16
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- Article
A Mixed Methods Study of Medication Adherence in Adults with Neurofibromatosis Type 1 (NF1) on a Clinical Trial of Selumetinib.
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- Cancers, 2025, v. 17, n. 2, p. 295, doi. 10.3390/cancers17020295
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- Article
Inhibition of Anaplastic Lymphoma Kinase (Alk) as Therapeutic Target to Improve Brain Function in Neurofibromatosis Type 1 (Nf1).
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- Cancers, 2023, v. 15, n. 18, p. 4579, doi. 10.3390/cancers15184579
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- Article
Trabecular Bone Score (TBS) and Bone Metabolism in Patients Affected with Type 1 Neurofibromatosis (NF1).
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- 2019
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- Publication type:
- journal article
Key features of choroidal abnormalities in neurofibromatosis type 1, a commentary on "Histologic correlates of "choroidal abnormalities" in neurofibromatosis type 1 (NF1)".
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- 2024
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- Publication type:
- Letter
Histologic correlates of "Choroidal abnormalities" in Neurofibromatosis type 1 (NF1).
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- Acta Neuropathologica, 2024, v. 147, n. 1, p. 1, doi. 10.1007/s00401-024-02724-y
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- Article
Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1).
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- Acta Neuropathologica, 2021, v. 141, n. 4, p. 605, doi. 10.1007/s00401-021-02276-5
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- Article
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
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- Genes, 2022, v. 13, n. 7, p. 1130, doi. 10.3390/genes13071130
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- Article
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
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- Genes, 2019, v. 10, n. 9, p. 675, doi. 10.3390/genes10090675
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- Article
Dietary intervention rescues a bone porosity phenotype in a murine model of Neurofibromatosis Type 1 (NF1).
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- PLoS ONE, 2024, v. 19, n. 6, p. 1, doi. 10.1371/journal.pone.0304778
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- Publication type:
- Article
Motor deficits and neurofibromatosis type 1 (NF1)-associated MRI impairments in a mouse model of NF1.
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- NMR in Biomedicine, 2010, v. 23, n. 10, p. 1173, doi. 10.1002/nbm.1546
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- Article
Vertebral column resection (VCR) at the subapical vertebra for correction of angular kyphosis associated with neurofibromatosis type 1(NF1): a case report.
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- European Spine Journal, 2022, v. 31, n. 12, p. 3736, doi. 10.1007/s00586-022-07230-x
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- Article
Recommendations of the Polish Sarcoma Group on diagnostic-therapeutic procedures and control in patients with type 1 neurofibromatosis (NF1) and the associated malignant neoplasm of peripheral nerve sheaths.
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- Nowotwory, 2022, v. 72, n. 2, p. 106, doi. 10.5603/NJO.2022.0018
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- Article
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
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- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00258-w
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- Article
Population pharmacokinetics of FCN-159, a MEK1/2 inhibitor, in adult patients with advanced melanoma and neurofibromatosis type 1 (NF1) and model informed dosing recommendations for NF1 pediatrics.
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- Frontiers in Pharmacology, 2023, v. 14, p. 1, doi. 10.3389/fphar.2023.1101991
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- Article
Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels.
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- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1861
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- Publication type:
- Article
An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle.
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- Human Molecular Genetics, 1993, v. 2, n. 7, p. 989
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- Publication type:
- Article
Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene.
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- Human Molecular Genetics, 1993, v. 2, n. 6, p. 725
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- Article
Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2.
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- Human Molecular Genetics, 1993, v. 2, n. 4, p. 439
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- Publication type:
- Article
Correction: Evaluating modified diets and dietary supplement therapies for reducing muscle lipid accumulation and improving muscle function in neurofibromatosis type 1 (NF1).
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- 2021
- Publication type:
- Correction Notice
Evaluating modified diets and dietary supplement therapies for reducing muscle lipid accumulation and improving muscle function in neurofibromatosis type 1 (NF1).
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- PLoS ONE, 2020, v. 15, n. 8, p. 1, doi. 10.1371/journal.pone.0237097
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- Article
Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1.
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- Molecular Biology Reports, 2019, v. 46, n. 4, p. 4349, doi. 10.1007/s11033-019-04888-3
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- Article
Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.
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- 2010
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- Publication type:
- journal article
Can the Cognitive Phenotype in Neurofibromatosis Type 1 (NF1) Be Explained by Neuroimaging? A Review.
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- Frontiers in Neurology, 2020, v. 10, p. 1, doi. 10.3389/fneur.2019.01373
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- Article
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
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- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 870, doi. 10.1038/ejhg.2014.210
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- Article
Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
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- 2010
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- Correction Notice
Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
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- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 81, doi. 10.1038/ejhg.2009.129
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- Article
Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention.
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- Journal of Child Neurology, 2021, v. 36, n. 8, p. 625, doi. 10.1177/0883073820981270
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- Article
EVI2B, a Gene Lying in an Intron of the Neurofibromatosis Type 1 (NF1) Gene, Is As the NF1 Gene Involved in Differentiation of Melanocytes and Keratinocytes and Is Overexpressed in Cells Derived from NF1 Neurofibromas.
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- DNA & Cell Biology, 1999, v. 18, n. 5, p. 345, doi. 10.1089/104454999315240
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- Article
Case report of ascending colon cancer and multiple jejunal GISTs in a patient with neurofibromatosis type 1 (NF1).
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- 2019
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- Publication type:
- journal article
Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects.
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- Archives of Dermatological Research, 2011, v. 303, n. 5, p. 317, doi. 10.1007/s00403-010-1090-z
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- Article
Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects.
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- Archives of Dermatological Research, 2011, v. 303, n. 5, p. 317, doi. 10.1007/s00403-010-1090-z
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- Publication type:
- Article
Clinical characteristics and in silico analysis of congenital pseudarthrosis of the tibia combined with neurofibromatosis type 1 caused by a novel NF1 mutation.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.991314
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- Article
Novel mutations involving the NF1 gene coding sequence in neurofibromatosis type 1 patients from Taiwan.
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- Journal of Human Genetics, 2003, v. 48, n. 10, p. 545, doi. 10.1007/s10038-003-0066-7
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- Article
Identifying Bone Matrix Impairments in a Mouse Model of Neurofibromatosis Type 1 (NF1) by Clinically Translatable Techniques.
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- Journal of Bone & Mineral Research, 2022, v. 37, n. 8, p. 1603, doi. 10.1002/jbmr.4633
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- Article
The Perceived Influence of Neurofibromatosis Type 1(NF1) on the Parents' Relationship.
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- Children, 2023, v. 10, n. 3, p. 448, doi. 10.3390/children10030448
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- Article
Risk Factors for Bullying Victimization in Children with Neurofibromatosis Type 1 (NF1).
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- Children, 2021, v. 8, n. 2, p. 1, doi. 10.3390/children8020145
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- Publication type:
- Article
Burden Among Caregivers of Pediatric Patients with Neurofibromatosis Type 1 (NF1) and Plexiform Neurofibroma (PN) in the United States: A Cross-Sectional Study.
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- Neurology & Therapy, 2022, v. 11, n. 3, p. 1221, doi. 10.1007/s40120-022-00365-5
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- Publication type:
- Article
Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene.
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- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 455, doi. 10.1038/sj.ejhg.5200493
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- Publication type:
- Article
Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 209, doi. 10.1038/sj.ejhg.5200434
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- Publication type:
- Article
Assessment of Ecotropic Viral Integration Site 2B (EVI2B) Gene in Juvenile Myelomonocytic Leukemia and Neurofibromatosis Type 1 NF1 Tumors.
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- Biochemical Genetics, 2024, v. 62, n. 2, p. 1263, doi. 10.1007/s10528-023-10480-z
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- Article
Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene.
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- Human Genetics, 2001, v. 109, n. 5, p. 487, doi. 10.1007/s004390100594
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- Publication type:
- Article
Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours.
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- Human Genetics, 2000, v. 107, n. 1, p. 33, doi. 10.1007/s004390050007
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- Publication type:
- Article
Transition Readiness Assessment in Adolescents and Young Adults with Neurofibromatosis Type 1 (NF1).
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- Comprehensive Child & Adolescent Nursing, 2023, v. 46, n. 3, p. 223, doi. 10.1080/24694193.2020.1806402
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- Article
Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1331278
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- Article
Neurofibromatosis Type 1 (NF1): Addressing the Transition from Pediatric to Adult Care.
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- Pediatric Health, Medicine & Therapeutics, 2023, v. 14, p. 19, doi. 10.2147/PHMT.S362679
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- Publication type:
- Article