Research News

Research and Education are the fundamental focus of NF Network's mission.  In this section of the website you will find information on current research, clinical trials and educational opportunities. 


Adam Pearson hopes to beat prejudice after Under The Skin

If I were to play a Bond Villain, I’d want to be evil for the way I behaved and not the way I looked, writes Neurofibromatosis sufferer ADAM PEARSON. (Source: the Mail online | Health)
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Neurofibromatosis Type 1 Gene Mutation Analysis Using Sequence Capture and High-throughput Sequencing.

Authors: Uusitalo E, Hammais A, Palonen E, Brandt A, Mäkelä VV, Kallionpää R, Jouhilahti EM, Pöyhönen M, Soini J, Peltonen J, Peltonen S Abstract Neurofibromatosis type 1 syndrome (NF1) is caused by mutations in the NF1 gene. Availability of new sequencing technology prompted us to search for an alternative method for NF1 mutation analysis. Genomic DNA was isolated from saliva avoiding...
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Relationship between whole‐body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis

Patients with neurofibromatosis 1 (NF1), NF2, and schwannomatosis share a predisposition to develop multiple nerve sheath tumors. Previous studies have demonstrated that patients with NF1 and NF2 have reduced quality of life (QOL), but no studies have examined the relationship between whole‐body tumor burden and QOL in these patients. We administered a QOL questionnaire (the SF‐36) and a...
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Neurofibromatosis sufferer who filmed nude with Scarlett Johansson

Adam Pearson, 26, has the genetic disorder neurofibromatosis, but that did not stop him from shedding his clothes in front of Scar-Jo. (Source: the Mail online | Health)
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Gastrointestinal: Neurofibromatosis type 1, duodenal somatostatinoma and gastrointestinal stromal tumors; a triad worth remembering

(Source: Journal of Gastroenterology and Hepatology)
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[A report of three cases and review of auditory brainstem implants in children.]

CONCLUSIONS: ABI has now entered the list of treatments that can be proposed in pediatric profound sensorineural deafness. Its major risks of complications are CSF leakage and non-auditory side effects. Its outcomes are worse and less predictable than cochlear implants. Thus, its indications must remain restricted to cases meeting the following conditions: absence of alternative option to...
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Malignant peripheral nerve sheath tumour of penis

We present a case of penile MPNST in a 38‐year‐old man in the absence of neurofibromatosis treated with surgery followed by post‐operative radiotherapy to a dose of 60 Gray in 30 fractions and adjuvant chemotherapy with ifosfamide and adriamycin. (Source: Andrologia)
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Ultrasound imaging for neurofibromatosis: from the dermatologist's perspective

(Source: JDDG)
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Wishing Melissa Shea Malerba the best as she once again runs the #BostonMarathon for #NFincNE. You make us proud! #BostonStrong #Boston