30,310 results match your criteria: "Neurocutaneous Syndromes"

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Neurofibromatosis from Head to Toe: What the Radiologist Needs to Know.
Mindy X Wang, Jonathan R Dillman, Jeffrey Guccione, Ahmed Habiba, Marwa Maher

July 2022

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Functional assessment and treatment of perseverative speech about restricted topics in an adolescent with Asperger syndrome.
Wayne W Fisher, Nicole M Rodriguez, Todd M Owen

J Appl Behav Anal· May 2014

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Surgery in NF2-Schwannomatosis.
Michel Kalamarides, Omar Pathmanaban, Matthieu Peyre, Andrew Thomas King

Fam Cancer· December 2025

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ATM interaction with GRP94 modulates oncogenic receptor expression and signaling and microglial activation.
Paige E Burrell, Donald E Fleenor, Olivia M Nicholson, Changjuan Shao, Michael B Kastan

Proc Natl Acad Sci U S A· December 2025

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Integrating whole-exome sequencing and scRNA-seq reveal the characteristic in one clear cell renal cell carcinoma sample arising in the setting of VHL disease.
Wenhao Lu, Tingwei Jin, Xiaoxiang Yu, Yixuan Liu, Zheng Lu

Sci Rep· December 2025

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PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.
Wangjie Zheng, Yuhan Xie, Jianlei Gu, Hongyu Li, Stefan Somlo

PLoS Genet· December 2025

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Spinal Cord Stimulation in Schwannomatosis: A Case Report.
Caleb Graham, Ivan Chew, Justin Jackson

A A Pract· December 2025

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Daily Care Concerns Among Mothers of Children With Developmental and Epileptic Encephalopathies: A Qualitative Study Using In-Depth Interviews.
María Salcedo-Perez-Juana, Lidiane Lima Florencio, Ana San-Martín-Gómez, Jorge Pérez-Corrales, Cristina García-Bravo

Child Care Health Dev· January 2026

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"It's not any one thing, it's always all of them, all at the same time": quality of life in NF2-related schwannomatosis from patient and clinician perspectives.
Sophia C Carias, Frank D Buono, Liesel Von Imhof, Sneha M Yelamanchili, Hilary Chan

Fam Cancer· December 2025

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Pharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1.
Franceska Kovaci, Cassandre Goachet, Simon Perrin, Lotfi Slimani, Fanny Coulpier

Bone Res· December 2025

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Canagliflozin as a Potential Preclinical Therapy for Tuberous Sclerosis Complex: Inhibition of Cell Proliferation via Cell Cycle Arrest and Mitochondrial Dysfunction.
Juan Ye, Boyuan Liu, Jing Wu, Hongliang Gao, Qingyun Wei

Drug Des Devel Ther· December 2025

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Fatal Triad of Subarachnoid Hemorrhage, Cervical Hematoma, and Upper Airway Obstruction in a Patient With Neurofibromatosis Type 1: A Case Report.
Maximilian Rühlmann, Matthias Gawlitza, Nazife Dinc, Christian Senft, Michael Bauer

Crit Care Explor· December 2025

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Adrenergic Storm with Obstructive Hydrocephalus: Atypical Neurological Presentation of Von Hippel-Lindau Disease with Bilateral Pheochromocytoma in an Adolescent.
Jean Mun Cheah, Thai Lun Tan, Yue Hui Lau, Stefanie Kar Yan Hung, Fei Bing Yong

J ASEAN Fed Endocr Soc· November 2025

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[Clinicopathological and molecular genetic characteristics of multifocal micronodular pneumocyte hyperplasia (MMPH)].
J Zhou, Y T Wang, L J Zhang, Y Cai, X Li

Zhonghua Bing Li Xue Za Zhi· December 2025

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Neurofibromatosis type 1-associated tumors in children.
Hilal Susam Şen

Turk J Pediatr· October 2025

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Surgical trapping and everolimus therapy for a giant internal carotid aneurysm in pediatric tuberous sclerosis complex: case report and literature review.
Sosho Kajiwara, Yusuke Otsu, Jin Kikuchi, Kiyohiko Sakata, Yuuta Hamamoto

Childs Nerv Syst· December 2025

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Neurofibromatosis review with focus on rehabilitation intervention.
Mi Ran Shin, Mackenzie Brown, Benjamin Siegel, Sinan Turnacioglu

Curr Probl Pediatr Adolesc Health Care· November 2025

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Quantitative assessment of the corneal subbasal nerve plexus in children with neurofibromatosis type 1 and optic pathway glioma using in vivo confocal microscopy.
Hossein Ghahvehchian, Golshan Latifi, Masoud Aghsaei Fard

Sci Rep· November 2025

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Prevalence of optic pathway glioma in NF1: a systematic review and meta-analysis focused on MRI surveillance.
Michail Angelos Gkikas, Anna Nikolaidou, Athanasia Sandali, Konstantinos Benekos, Ioannis Tsinopoulos

J AAPOS· December 2025

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Spatial gene expression profiling reveals the distinct microenvironment of tuberous sclerosis complex-associated angiomyolipoma.
Ryuta Watanabe, Tetsuya Fukumoto, Noriyoshi Miura, Mie Kurata, Riko Kitazawa

Sci Rep· November 2025

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High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study.
Zhannat Idrissova, Farida Rakhimbekova, Madina Orazgaliyeva, Madina Zhaksybek, Kristina Kovaleva

Genes (Basel)· November 2025

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Neurofibromatosis Type 1 and the Search for Effective Tumor Therapies Using High-Throughput Drug Screening.
Stephanie J Bouley, Benjamin E Housden, James A Walker

Curr Oncol· November 2025

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Von Hippel-Lindau Disease-Associated Endolymphatic Sac Tumours: Seven Cases and Genotype-Phenotype Features.
Qin Wang, Junhui Huang, Zhikai Zhao, Yu Su, Nan Wu

Curr Oncol· November 2025

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Burden of illness in tuberous sclerosis complex-associated epilepsy: a systematic literature review of epidemiology, health-related quality of life, costs and resource use.
Alexandra Furber, Alison Martin, Andrea Bertuzzi, Fern Wesson, Miranda Harrison

Orphanet J Rare Dis· November 2025

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[Identification of two novel mutations and genotype-phenotype analysis in patients with neurofibromatosis type 1].
Z C Li, X Y Chen, Y Yan, X W Wu, R H Liu

Zhonghua Yu Fang Yi Xue Za Zhi· November 2025

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Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases.
Jing Liu, Jun He, Wanglan Tang, Jing Chen, Yingchun Luo

BMC Pregnancy Childbirth· November 2025

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The clinical spectrum of paediatric NF2- related schwannomatosis.
Dorothy Halliday, Lucy Hanington

Fam Cancer· November 2025

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Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.
Clara Nogué, Lluis Salvador, Martin Hasselblatt, Barbara Rivera

Fam Cancer· November 2025

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Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies.
Miriam J Smith

Fam Cancer· November 2025

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