Results 51 to 60 of about 61,555 (249)

Neurofibromatosis type 1 and cardiac manifestations

Türk Kardiyoloji Derneği Arşivi, 2015
Objective: Cardiac manifestations of neurofibromatosis type 1 (NF1) may include hypertension, congenital heart disease, and hypertrophic cardiomyopathy. The aim of this study was to evaluate cardiac abnormalities in patients with NF1.
Faruk İncecik, Özlem M Hergüner, Sevcan Alınç-erdem, Şakir Altunbaşak   +3 more
doaj   +1 more source

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

Late-Onset Glioma with Neurofibromatosis Type 1

Pediatric Neurology Briefs, 2002
The frequency of symptomatic nonoptic pathway brain tumors in adolescents and adults known to have neurofibromatosis type 1 (NF1) was determined from the National Neurofibromatosis Foundation International Database (NNFFID) in a study at Washington ...
J Gordon Millichap
doaj   +1 more source

Ewing sarcoma in a child with neurofibromatosis type 1. [PDF]

, 2019
We report here on a case of Ewing sarcoma (ES) occurring in a child with neurofibromatosis type 1. The sarcoma had an EWSR1-ERG translocation as well as loss of the remaining wild-type allele of NF1. Loss of the NF1 wild-type allele in the tumor suggests
Bastian, Boris C, Fernandez, Karen S, Hardee, Steven, Horvai, Andrew, Shah, Avanthi Tayi, Sweet-Cordero, E Alejandro, Turski, Michelle L   +6 more
core  

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

Neurofibromatosis type 1 associated with papillary thyroid carcinoma incidentally detected by thyroid ultrasonography: a case report

Journal of Medical Case Reports, 2012
Introduction Neurofibromatosis type 1 is a common heritable neurocutaneous disorder. Neurofibromatosis type 1 may be associated with tumors of the central nervous system and pheochromocytoma.
Kim Bu, Choi Young, Gwoo Sangeon, Park Yo, Yang Song I, Kim Jeong   +5 more
doaj   +1 more source

Composite pheochromocytoma associated with neurofibromatosis type 1

IJU Case Reports, 2023
Introduction Composite pheochromocytoma is a rare tumor, occurring in only 3% of pheochromocytomas. We report a case of composite pheochromocytoma with neurofibromatosis type 1.
Akira Tachibana, Kota Iida, Yoshitaka Itami, Masaya Hashimura, Yukinari Hosokawa, Kiyohide Fujimoto   +5 more
doaj   +1 more source

Bullous lung disease and neurofibromatosis type-1. [PDF]

, 2012
Lung interstitial diseases and bullae are described as possible complications of neurofibromatosis type-1 (NF-1), a genetic disorder inherited as a autosomal-dominant trait.
Castiglioni M, Di Natale D, Imperatori A, Nardecchia E, Perfetti L, Rotolo N.   +5 more
core  

Coexistence of neurofibromatosis type-1 and primary pulmonary sarcoma: a case report and review of the literature [PDF]

, 2014
Neurofibromatosis type-1 (NF1) is a genetic disorder characterized by café-au-lait spots, neurofibroma and other associated features. The risk of malignancy is approximately 2.5 to 4-fold higher as compared to general population.
Boo, Yang Liang, Chin, Pek Woon, Hoo, Fan Kee, Lim, Suat Yee, Md Tarekh, Noor Aliza   +4 more
core   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source