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Autosomal Dominant Lateral Temporal Epilepsy: Clinical Spectrum, New Epitempin Mutations, and Genetic Heterogeneity in Seven European Families.
- Published in:
- Epilepsia (Series 4), 2003, v. 44, n. 10, p. 1289, doi. 10.1046/j.1528-1157.2003.20003.x
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- Publication type:
- Article
Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co‐existing truncating variants.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 602, doi. 10.1002/ajmg.a.61976
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- Publication type:
- Article
Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1518, doi. 10.1002/ajmg.a.37068
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- Publication type:
- Article
Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1431, doi. 10.1002/ajmg.a.36466
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- Publication type:
- Article
Nerve Sheath Tumors in Neurofibromatosis Type 1: Assessment of Whole-Body Metabolic Tumor Burden Using F-18-FDG PET/CT.
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- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0143305
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- Publication type:
- Article
Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119030
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- Publication type:
- Article
Nilotinib Is More Potent than Imatinib for Treating Plexiform Neurofibroma In Vitro and In Vivo.
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- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0107760
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- Publication type:
- Article
Impaired Pten Expression in Human Malignant Peripheral Nerve Sheath Tumours.
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0047595
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- Publication type:
- Article
Quantitative Assessment of Whole-Body Tumor Burden in Adult Patients with Neurofibromatosis.
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- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035711
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- Publication type:
- Article
Muscle action potential scans and ultrasound imaging in neurofibromatosis type 2.
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- 2017
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- Publication type:
- journal article
Treatment of ADHD in neurofibromatosis type 1.
- Published in:
- 2002
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- Publication type:
- journal article
Treatment of ADHD in neurofibromatosis type 1.
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- Developmental Medicine & Child Neurology, 2002, v. 44, n. 3, p. 164, doi. 10.1111/j.1469-8749.2002.tb00780.x
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- Publication type:
- Article
Germline NF1 Mutational Spectra and Loss-of Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1.
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- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 7, p. 2784, doi. 10.1210/jc.2006-2833
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- Publication type:
- 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
Differential modulation of malignant peripheral nerve sheath tumor growth by omega-3 and omega-6 fatty acids.
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- Oncogene, 2005, v. 24, n. 14, p. 2367, doi. 10.1038/sj.onc.1208425
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- Publication type:
- 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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- Publication type:
- Article
Perfusion single photon emission computed tomography in a mouse model of neurofibromatosis type 1: towards a biomarker of neurologic deficits.
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- Journal of Cerebral Blood Flow & Metabolism, 2015, v. 35, n. 8, p. 1304, doi. 10.1038/jcbfm.2015.43
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- Publication type:
- Article
Differentiation of peripheral nerve sheath tumors in patients with neurofibromatosis type 1 using diffusion-weighted magnetic resonance imaging.
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- Neuro-Oncology, 2019, v. 21, n. 4, p. 508, doi. 10.1093/neuonc/noy199
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- Publication type:
- Article
The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1.
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- PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0232031
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- Publication type:
- Article
Sulindac derivatives inhibit cell growth and induce apoptosis in primary cells from malignant peripheral nerve sheath tumors of NF1-patients.
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- Cancer Cell International, 2004, v. 4, p. 4, doi. 10.1186/1475-2867-4-4
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- Publication type:
- Article
Prognostic relevance of FDG PET in patients with neurofibromatosis type-1 and malignant peripheral nerve sheath tumours.
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- European Journal of Nuclear Medicine & Molecular Imaging, 2006, v. 33, n. 4, p. 428, doi. 10.1007/s00259-005-0030-1
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- Publication type:
- Article
Differentially expressed genes in neurofibromatosis 1-associated neurofibromas and malignant peripheral nerve sheath tumors.
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- Acta Neuropathologica, 2004, v. 107, n. 2, p. 159, doi. 10.1007/s00401-003-0797-8
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- Publication type:
- Article
Quantitative analysis of NF1 and OMGP gene transcripts in sporadic gliomas, sporadic meningiomas and neurofibromatosis type 1-associated plexiform neurofibromas.
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- Acta Neuropathologica, 1999, v. 97, n. 6, p. 547, doi. 10.1007/s004010051029
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- Publication type:
- Article
Mutation and expression of PDGFRA and KIT in malignant peripheral nerve sheath tumors, and its implications for imatinib sensitivity.
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- Carcinogenesis, 2006, v. 27, n. 3, p. 664, doi. 10.1093/carcin/bgi273
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- Publication type:
- Article
Subclassification of Nerve Sheath Tumors by Gene Expression Profiling.
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- Brain Pathology, 2004, v. 14, n. 3, p. 258, doi. 10.1111/j.1750-3639.2004.tb00062.x
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- Publication type:
- Article
Mutations and Allelic Loss of the NF2 Gene in Neurofibromatosis 2-Associated Skin Tumors.
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- Journal of Investigative Dermatology, 2000, v. 114, n. 5, p. 1017, doi. 10.1046/j.1523-1747.2000.00975.x
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- Publication type:
- Article
Voltage-dependent membrane currents of cultured human neurofibromatosis type 2 Schwann cells.
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- Glia, 1998, v. 24, n. 3, p. 313, doi. 10.1002/(SICI)1098-1136(199811)24:3<313::AID-GLIA5>3.0.CO;2-2
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- Publication type:
- Article
Effects of splicing mutations on NF2-transcripts: Transcript analysis and information theoretic predictions.
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- Genes, Chromosomes & Cancer, 2011, v. 50, n. 8, p. 571, doi. 10.1002/gcc.20876
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- Publication type:
- Article
Loss of NF1 allele in schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma.
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- Genes, Chromosomes & Cancer, 1999, v. 24, n. 3, p. 283, doi. 10.1002/(SICI)1098-2264(199903)24:3<283::AID-GCC15>3.0.CO;2-K
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- Publication type:
- Article
Screening for germ-line mutations in the NF2 Gene.
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- Genes, Chromosomes & Cancer, 1995, v. 12, n. 2, p. 117, doi. 10.1002/gcc.2870120206
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- Publication type:
- Article
Efficacy and selectivity of nilotinib on NF1-associated tumors in vitro.
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- Journal of Neuro-Oncology, 2014, v. 116, n. 2, p. 231, doi. 10.1007/s11060-013-1295-z
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- Publication type:
- Article
Imatinib mesylate (Glivec) inhibits Schwann cell viability and reduces the size of human plexiform neurofibroma in a xenograft model.
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- Journal of Neuro-Oncology, 2010, v. 98, n. 1, p. 11, doi. 10.1007/s11060-009-0049-4
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- Publication type:
- Article
Management of neurofibromatosis type 1-associated plexiform neurofibromas.
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- Neuro-Oncology, 2022, v. 24, n. 11, p. 1827, doi. 10.1093/neuonc/noac146
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- Publication type:
- Article
Evaluation of magnetic resonance imaging-based radiomics characteristics for differentiation of benign and malignant peripheral nerve sheath tumors in neurofibromatosis type 1.
- Published in:
- Neuro-Oncology, 2022, v. 24, p. 1790, doi. 10.1093/neuonc/noac100
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- Publication type:
- Article
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 9, p. 1119, doi. 10.1093/hmg/11.9.1119
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- Publication type:
- Article
Testing ATRA and MEK inhibitor PD0325901 effectiveness in a nude mouse model for human MPNST xenografts.
- Published in:
- BMC Research Notes, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13104-018-3630-0
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- Publication type:
- Article
Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors.
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- BMC Medicine, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1741-7015-11-109
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- Publication type:
- Article
Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors.
- Published in:
- 2013
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- Publication type:
- journal article
Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #664 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/664.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 420, doi. 10.1002/humu.9193
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- Publication type:
- Article
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
- Published in:
- Human Mutation, 2002, v. 19, n. 3, p. 309, doi. 10.1002/humu.9018
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- Publication type:
- Article
Mosaicism in sporadic neurofibromatosis 2 patients.
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- Human Molecular Genetics, 1998, v. 7, n. 13, doi. 10.1093/hmg/7.13.2051
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- Publication type:
- Article
High frequency of nonsense mutations in the NF2 gene caused by C to T transitions in five CGA codons.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 1, p. 137
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- Publication type:
- Article