Analysis of mutations of NF1 gene in three patients with neurofibromatosis type I

Authors: LIN Yanyan, DONG Shuyan, WANG Huaiyu, LIN Lihang, XIAO Xuemin

Source: Pifu-xingbing zhenliaoxue zazhi, Vol 31, Iss 12, Pp 818-824 (2024)

Subject Terms: neurofibromatosis type i, dna mutational analysis, nf1 gene, Dermatology, RL1-803

File Description: electronic resource

Relation: http://pfxbzlx.gdvdc.com/EN/10.3969/j.issn.1674-8468.2024.12.003; https://doaj.org/toc/1674-8468

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Disproportionate adverse event signals of selumetinib in neurofibromatosis type I: insights from FAERS

Authors: Lin Li

Source: Frontiers in Pharmacology, Vol 15 (2025)

Subject Terms: selumetinib, neurofibromatosis type I, FAERS, adverse reactions, rare diseases, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2024.1454418/full; https://doaj.org/toc/1663-9812

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Reduction of tumor burden via precise photothermal release of sirolimus by carbon nanodots in 3D plexiform neurofibroma-in-a-dish models

Authors: Macchiaiolo, Marina ^{a, 1}, Cillari, Roberta ^{b, 1}, Gonfiantini, Michaela V. ^a, Cacchione, Antonella ^c, Mastronuzzi, Angela ^c, Cavallaro, Gennara ^b, Vecchio, Davide ^{a, ⁎}, Mauro, Nicolò ^{b, ⁎}

Source: In Surfaces and Interfaces 15 February 2025 59

Malignant peripheral nerve sheath tumor presenting as sciatica in a patient with neurofibromatosis type 1: is magnetic resonance imaging an effective screening tool?

Authors: Adisalem M. Teferi, Sangam Sangam, Azana Newman, Osman Alvarado, Irvianny Madera, Julian Paniagua

Source: European Journal of Case Reports in Internal Medicine (2024)

Subject Terms: malignant peripheral nerve sheath tumor, mpnst, nf-1, magnetic resonance imaging, sciatica, neurofibromatosis type i, Medicine

File Description: electronic resource

Relation: https://www.ejcrim.com/index.php/EJCRIM/article/view/4818; https://doaj.org/toc/2284-2594

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A Case of Neurofibromatosis 1 with Myelopathy Due to Intracanal Rib Head and Kyphoscoliosis in an Adult

Authors: Takuji Yamamoto, Yohshiro Nitobe, Kanichiro Wada, Gentaro Kumagai, Toru Asari, Kotaro Aburakawa, Yasuyuki Ishibashi

Source: Spine Surgery and Related Research, Vol 8, Iss 1, Pp 106-109 (2024)

Subject Terms: neurofibromatosis type i, adult scoliosis, intracanal rib head, Surgery, RD1-811

File Description: electronic resource

Relation: https://www.jstage.jst.go.jp/article/ssrr/8/1/8_2023-0087/_pdf/-char/en; https://doaj.org/toc/2432-261X

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Successful Management of Thyrocervical Trunk Aneurysm Ruptured into the Thoracic Cavity After Cesarean Section in Nonstable Patient with Neurofibromatosis Type I

Authors: Nikola Mirković, Marko Prokić, Marija Novčić, Miloš Arsenijević, Snežana Sretenović, Dragan Knežević, Vojin Kovačević, Marija Šorak, Olivera Kostić

Source: Medicina, Vol 61, Iss 1, p 49 (2024)

Subject Terms: thyrocervical trunk aneurysm, rupture, neurofibromatosis type I, puerperium, coil embolisation, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/1648-9144/61/1/49; https://doaj.org/toc/1010-660X; https://doaj.org/toc/1648-9144

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Successful revascularization using a saphenous vein for a ruptured brachial artery aneurysm in a patient with neurofibromatosis type I

Authors: Bruno Yuji Chimada, MD, Kohei Hachiro, MD, PhD, Noriyuki Takashima, MD, PhD, Tomoaki Suzuki, MD, PhD

Source: Journal of Vascular Surgery Cases and Innovative Techniques, Vol 10, Iss 1, Pp 101350- (2024)

Subject Terms: Brachial artery aneurysm, Neurofibromatosis type I, Saphenous vein graft, Vasculopathy, Von Recklinghausen, Surgery, RD1-811, Diseases of the circulatory (Cardiovascular) system, RC666-701

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Relation: http://www.sciencedirect.com/science/article/pii/S2468428723002599; https://doaj.org/toc/2468-4287

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Generation of heterozygous and homozygous NF1 lines from human-induced pluripotent stem cells using CRISPR/Cas9 to investigate bone defects associated with neurofibromatosis type 1

Authors: Annabelle Darle, Thibault Mahiet, Déborah Aubin, Manon Doyen, Lina El Kassar, Béatrice Parfait, Gilles Lemaitre, Christine Baldeschi, Jennifer Allouche, Nathalie Holic

Source: Frontiers in Cell and Developmental Biology, Vol 12 (2024)

Subject Terms: neurofibromatosis type I, gene editing, CRISPR/Cas9, human-induced pluripotent stem cells, osteogenic differentiation, disease modeling, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2024.1359561/full; https://doaj.org/toc/2296-634X

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Pigmented malignant peripheral nerve sheath tumor of the nail unit arising in a patient with neurofibromatosis type I

Authors: Courtney Kromer, MD, MS, Thomas Knackstedt, MD, MPH, Stephen Somach, MD

Source: JAAD Case Reports, Vol 35, Iss , Pp 12-15 (2023)

Subject Terms: malignant peripheral nerve sheath tumor, nail bed, neurofibromatosis type I, soft tissue sarcoma, Dermatology, RL1-803

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352512623000516; https://doaj.org/toc/2352-5126

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Plexiform neurofibromatosis with peripheral malignant nerve sheath tumor and scoliosis - more surveillance imaging needed?

Authors: Siti Nurhazwani Kamaludin, MD, Marlina Yusuf, MD, MMed (Radiology), Warren Erwin Nicholas, MD, MS (Ortho), Aaron Paul, MD, MS (Ortho), CMIA, Yong Guang Teh, MD, DrRad

Source: Radiology Case Reports, Vol 17, Iss 7, Pp 2388-2393 (2022)

Subject Terms: Peripheral malignant peripheral sheath tumor, Plexiform neurofibroma, Neurofibromatosis type I, Scoliosis, Case report, Medical physics. Medical radiology. Nuclear medicine, R895-920

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Relation: http://www.sciencedirect.com/science/article/pii/S1930043322002837; https://doaj.org/toc/1930-0433

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Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I

Authors: André Leier, Marc Moore, Hui Liu, Michael Daniel, Alexis M. Hyde, Ludwine Messiaen, Bruce R. Korf, Jamuna Selvakumaran, Lukasz Ciszewski, Laura Lambert, Jeremy Foote, Margaret R. Wallace, Robert A. Kesterson, George Dickson, Linda Popplewell, Deeann Wallis

Source: Molecular Therapy: Nucleic Acids, Vol 28, Iss , Pp 261-278 (2022)

Subject Terms: MT: Oligonucletides: Therapies and Applications, neurofibromatosis type I, Ras/Raf/MAPK pathway, exon skipping, antisense oligo therapeutics, animal models, Therapeutics. Pharmacology, RM1-950

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Relation: http://www.sciencedirect.com/science/article/pii/S2162253122000609; https://doaj.org/toc/2162-2531

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Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

Authors: E. S. Makashova, K. O. Karandasheva, S. V. Zolotova, M. A. Ginzberg, M. Yu. Dorofeeva, M. V. Galkin, A. V. Golanov

Source: Нервно-мышечные болезни, Vol 12, Iss 1, Pp 39-48 (2022)

Subject Terms: neurofibromatosis type i, nf1, neurofibromatosis type ii, nf2, schwannomatosis, smarcb1, lztr1, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/475; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

Access URL: https://doaj.org/article/8fd9576caed54e95a81d2af955b40456

Features of CT and EUS in mesenteric plexiform neurofibroma with Neurofibromatosis type I: A case report

Authors: Ye-ting Li, Bachelor's degree, Hao Chen, Master degree, Xue Ding, Master degree, Qian Wu, Bachelor's degree, Qiu-chen Guo, Master degree, Duan-min Hu, PhD, Feng-yun Zhong, PhD, Yong-you Wu, PhD, Guang-qiang Chen, Master degree

Source: Radiology Case Reports, Vol 16, Iss 8, Pp 2103-2107 (2021)

Subject Terms: Plexiform neurofibroma, Mesentery, Neurofibromatosis type I, Computer tomography, Endoscopic ultrasonography, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S193004332100279X; https://doaj.org/toc/1930-0433

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Effectiveness of Diffusion Tensor Imaging in the Microstructural Evaluation of Corpus Callosum and Brain Parenchyma in Children with Neurofibromatosis Type I

Authors: Dilek Hacer ÇEŞME

Source: Bezmiâlem Science, Vol 9, Iss 2, Pp 171-176 (2021)

Subject Terms: neurofibromatosis type i, corpus callosum, diffusion tensor imaging, md, fa, Medicine (General), R5-920

File Description: electronic resource

Relation: http://bezmialemscience.org/archives/archive-detail/article-preview/effectiveness-of-diffusion-tensor-maging-in-the-mi/47250; https://doaj.org/toc/2148-2373

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The gene diagnosis of neurofibromatosis type I with headache as the main symptom: A case report and review of the literature

Authors: Ming Gao, Haokun Liu, Qiying Sun, Guang Yang

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: neurofibromatosis type I, headache, gene diagnosis, atypical manifestation, literature review, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.874613/full; https://doaj.org/toc/1664-2295

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Concurrent inhibition of FAK/SRC and MEK overcomes MEK inhibitor resistance in Neurofibromatosis Type I related malignant peripheral nerve sheath tumors

Authors: Yihui Gu, Chengjiang Wei, Manhon Chung, Haibo Li, Zizhen Guo, Manmei Long, Yuehua Li, Wei Wang, Rehanguli Aimaier, Qingfeng Li, Zhichao Wang

Source: Frontiers in Oncology, Vol 12 (2022)

Subject Terms: neurofibromatosis type I, MPNST, MEK, drug resistance, integrins, FAK (focal adhesion kinase), Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2022.910505/full; https://doaj.org/toc/2234-943X

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Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I

Authors: Antonietta Moramarco, Fabiana Mallone, Marta Sacchetti, Luca Lucchino, Emanuele Miraglia, Vincenzo Roberti, Alessandro Lambiase, Sandra Giustini

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Subject Terms: Neurofibromatosis Type I (NF1), Hyperpigmented spots (HSs), Rare diseases, Choroidal nodules, Ultra-wide field (UWF), Near-infrared reflectance (NIR) imaging OCT (NIR-OCT), Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/db034d03714547bebb25dfb43ea72a89

Selumetinib side effects in children treated for plexiform neurofibromas: first case reports of peripheral edema and hair color change

Authors: Francesco Baldo, Andrea Magnolato, Egidio Barbi, Irene Bruno

Source: BMC Pediatrics, Vol 21, Iss 1, Pp 1-4 (2021)

Subject Terms: Selumetinib, neurofibromatosis type I, Peripheral edema, Hair color change, Case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/4285ab7a3c15428e872b1742fe5a4e00

Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature

Authors: Pozharashka J., Dourmishev L., Bardarov E., Balabanova M., Miteva L.

Source: Acta Medica Bulgarica, Vol 47, Iss 2, Pp 43-46 (2020)

Subject Terms: neurofibromatosis type i, cutaneous manifestations, treatment modalities, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/0324-1750

Access URL: https://doaj.org/article/ccd91bdf10a24851a3c1063bcabaf0c7

Extracranial Vertebral Artery-Internal Jugular Vein-Spinal Vein Fistula in Neurofibromatosis Type I: Case Report and Literature Review

Authors: Jiarui Chen, Tuo Liang, Jiemei Cen, Jie Jiang, Tianyou Chen, Hao Li, Chong Liu, Jing Chen, Xinli Zhan

Source: Frontiers in Neurology, Vol 13 (2022)

Subject Terms: arteriovenous fistulas, neurofibromatosis type I, embolization, fistula, interventional therapy, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.855924/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/8fc58d605f9a4827ae63d99ac29061dd