|2.||Acoustic Neuroma (Acoustic Neurinoma)
|3.||Neurocutaneous Syndromes (Phakomatoses)
|4.||Sturge-Weber Syndrome (Sturge-Kalischer-Weber Syndrome)
|5.||von Hippel-Lindau Disease (von Hippel Lindau Disease)
|1.||Plotkin, Scott R: 14 articles (03/2014 - 10/2005)|
|2.||Gutmann, David H: 8 articles (04/2015 - 11/2002)|
|3.||Fisher, Michael J: 7 articles (04/2015 - 06/2012)|
|4.||Ratner, Nancy: 7 articles (03/2014 - 11/2002)|
|5.||Dombi, Eva: 6 articles (04/2015 - 01/2013)|
|6.||Giovannini, Marco: 6 articles (03/2014 - 04/2003)|
|7.||Widemann, Brigitte C: 5 articles (04/2015 - 11/2013)|
|8.||Ferner, Rosalie E: 5 articles (02/2015 - 02/2010)|
|9.||Morrison, Helen: 5 articles (03/2014 - 02/2010)|
|10.||Mautner, Victor-Felix: 5 articles (02/2014 - 08/2004)|
|1.||Gadolinium DTPA (Magnevist)FDA Link
12/01/1988 - "[Visualization of multiple neurofibromas using gadolinium-DTPA assisted MRT: a case report]."
12/01/1988 - "In a patient with multiple extra- and intraspinal tumors due to neurofibromatosis generalisata, the use of the MRI contrast agent Gadolinium-DTPA resulted in a better differentiation especially of small lesions. "
01/01/1993 - "The Authors conclude that MR with Gd-DTPA is helpful in revealing neuromas of the internal auditory canal, multiple lesions of neurofibromatosis and tumor recurrence."
03/01/1988 - "Gd-DTPA improved the sensitivity of MR imaging for benign extraaxial tumors, especially in cases of residual or recurrent acoustic neuromas, multiple tumors (e.g., neurofibromatosis), or inconclusive unenhanced MR images. "
09/01/1989 - "During May through October 1987, 17 children between the ages of 3 and 18 years with brain tumors underwent MRI examinations, before and after Gd-DTPA (11 gliomas, 4 medulloblastomas, 1 craniopharyngioma, and 1 child with neurofibromatosis and no pathologic diagnosis). "
|2.||Fluorodeoxyglucose F18 (Fludeoxyglucose F 18)FDA Link
01/01/2007 - "A case is presented of a patient suffering from NF1 with clinical signs of malignant change and accumulation of 18FDG in multiple neurofibromas. "
03/01/2011 - "A fludeoxyglucose F 18 positron emission tomography (FDG PET) scan helped to localize the tumors in 4 of the 5 patients with diagnoses other than neurofibromatosis. "
10/01/2009 - "In this prospective study, 9 neurofibromatosis type 1-associated PNfibs suspected to have undergone transformation to an MPNST were preoperatively evaluated by 18FDG-PET/CT and magnetic resonance imaging. "
06/01/2011 - "Bevacizumab holds substantial promise for the treatment of neurofibromatosis type 2-associated progressive lesions. "
01/01/2012 - "Bevacizumab treatment for vestibular schwannomas in neurofibromatosis type two: report of two cases, including responses after prior gamma knife and vascular endothelial growth factor inhibition therapy."
|4.||Calcitonin Gene-Related Peptide Receptors (Calcitonin-Gene Related Peptide Receptor)IBA
|5.||Monophenol Monooxygenase (Tyrosinase)IBA
01/01/1995 - "This method has already been shown to be effective in recessive dystrophic bullous epidermolysis, lethal Herlitz's junctional bullous epidermolysis, bullous ichthyosiform hereditary erythroderma, von Recklinghausen's neurofibromatosis, tyrosinase negative oculocutaneous albinism, Gorlin's syndrome, anhidrotic ectodermic dysplasia and Menkes disease. "
10/01/2015 - "Recent studies have demonstrated their frequent association with inherited syndromes like schwannomatosis and neurofibromatosis. "
11/01/2014 - "The aim of this study was to describe 3 cases of primary orbital schwannomatosis without associated systemic neurofibromatosis. "
11/19/2013 - "Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials."
11/19/2013 - "The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration was established with the goal to develop consensus recommendations for the use of endpoints in neurofibromatosis (NF) clinical trials. "
07/01/2015 - "Schwannomatosis is the third major form of neurofibromatosis (NF) and is distinct from NF1 and NF2. "
|7.||DNA (Deoxyribonucleic Acid)IBA
12/01/1987 - "We have examined and obtained blood for DNA linkage studies on over 250 individuals from 10 multigeneration neurofibromatosis families. "
01/01/2014 - "The genetic testing (Sanger DNA sequencing) for hereditary syndromes (von Hippel-Lindau, neurofibromatosis, etc.) is used for prediction of malignancy and recurrence. "
07/01/1992 - "DNA deletion in patients with von Recklinghausen neurofibromatosis."
12/01/1991 - "Familial spinal neurofibromatosis: clinical and DNA linkage analysis."
12/01/1987 - "Molecular organization and haplotype analysis of centromeric DNA from human chromosome 17: implications for linkage in neurofibromatosis."
|8.||Biological Markers (Surrogate Marker)IBA
06/01/1988 - "The present study demonstrated the expression of abnormal phenotypes (biomarkers) in cultured skin fibroblasts from hereditary adenomatosis of the colon and rectum (ACR) and neurofibromatosis (NF) patients. "
01/01/1987 - "The present studies illustrate the utility of biomarkers that occur systemically in two of the relatively frequent, dominantly inherited, precancer disorders: adenomatosis of the colon and rectum (ACR) and neurofibromatosis (NF). "
01/01/2012 - "WBMRI provides a comprehensive phenotype of neurofibromatosis patients, identifies distinct anatomic subgroups, and provides the basis for investigating molecular biomarkers that correlate with unique disease manifestations."
06/01/1988 - "Referring to a retrospective study of 53 families affected with neurofibromatosis and seen in genetic consultation from January 1977 to September 1987, the authors emphasize the difficulties of genetic counselling in this disease due to its variable expressivity with unforeseeable natural evolution and to the difficulty in detecting minor forms without biological markers. "
|9.||Neurofibromin 1 (Neurofibromin)IBA
10/01/2011 - "Neurofibromatosis type-1 (NF1) affects 1/3,000-4,000 individuals worldwide and is caused by the inactivation of the NF1 tumour suppressor gene, which encodes the protein neurofibromin. "
12/29/2009 - "Von Recklinghausen neurofibromatosis is caused by mutations in the NF1 gene, which encodes neurofibromin, a large protein that modulates the activity of Ras. "
01/01/2003 - "A non-sense mutation C2446T --> R816X of the neurofibromin gene has been detected in some patients with the neurofibromatosis 1-Noonan's syndrome phenotype. "
01/01/2016 - "During mitosis, neurofibromin is an integral part of the spindle, while its depletion leads to aberrant chromosome congression, possibly explaining the development of chromosomal instability in Neurofibromatosis type-1. "
01/01/2015 - "The term von Recklinghausen disease was used up to the end of the 20th century, when the gene of neurofibromatosis (NF1) was cloned on chromosome 17q11.2. The gene product is a cytoplasmic protein termed neurofibromin, regulating proliferation and maturation of both glial and neuronal progenitors during embryogenesis. "
|10.||Lynch cancer family syndrome 2IBA
03/01/1991 - "In addition there were strong indications that a proportion of cases were members of families with inherited cancer-prone syndromes, in particular with neurofibromatosis or with the Li Fraumeni cancer family syndrome."
01/01/1991 - "Overall, heredity played a role in the etiology of CBT in 4% of the study families: four (1.7%) due to known hereditary syndromes (nevoid basal cell carcinoma syndrome and von Recklinghausens neurofibromatosis--NF-1), four (1.7%) with multifactorial inheritance, and two additional families with cancers aggregating similar to the clinical criteria described for the Li-Fraumeni cancer family syndrome."
12/01/1993 - "The youngest was a known case of neurofibromatosis and, although seven patients were diagnosed with a sarcoma and carcinoma of the breast--a combination of cancers characteristic of the Li-Fraumeni cancer family syndrome--no other patients could directly be identified as suffering from any other cancer predisposition syndrome."
01/01/1994 - "Central nervous system (CNS) tumors have been associated with several hereditary syndromes including the Li-Fraumeni cancer family syndrome, neurofibromatosis (types 1 and 2), tuberous sclerosis, nevoid basal cell carcinoma syndrome, familial polyposis, and von Hippel-Lindau disease. "
|1.||Drug Therapy (Chemotherapy)
02/01/2010 - "To date, there have been tremendous advances in basic research in the pathogenesis of neurofibromatosis, and more recently in progress toward identifying effective drug therapies and the commencement of neurofibromatosis clinical trials. "
05/01/1993 - "Drug therapy for neurofibromatosis?"
09/01/1989 - "Ten years after a full program of radio- and chemotherapy for a so-called invasive uterine leiomyosarcoma, the diagnosis of intestinal neurofibromatosis is finally established and the patient is surgically cured. "
06/01/2012 - "Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis."
02/01/2009 - "The treatment modalities for neurofibromatosis type 1-associated optic gliomas include chemotherapy, radiation therapy, and surgical excision. "
|2.||Molecular Targeted Therapy
02/01/2015 - "Clinical trials with molecular-targeted therapies have become a reality for neurofibromatosis patients, and hold substantial promise for improving the morbidity and mortality of individuals affected with these disorders."
02/01/2015 - "The development of increasingly sophisticated preclinical models over the recent years has provided the platform from which to rationally develop molecular targeted therapies for both NF1 and NF2-related tumors, such as within the Department of Defense-sponsored Neurofibromatosis Clinical Trials Consortium. "
|3.||Transplantation (Transplant Recipients)
05/01/2000 - "Late-onset neurofibromatosis in a liver transplant recipient."
10/01/2013 - "The reasons for transplantation were ballistic trauma in four patients, extensive neurofibromatosis in two patients, and severe burns in one patient. "
01/01/1976 - "The author studied 189 patients with the main forms of phakomatosis (Louis-Barre syndrome, Sturge-Weber, Hippel-Lindau disease and Recklinghausens neurofibromatosis.) The use of pathogenetical treatment in the Louis-Barre syndrome (a transplantation of a neonatal thymus with the bone marrow) promoted an improvement in the clinico-immunological indices. "
11/01/2014 - "We aimed to present blepharoplasty techniques we used for severe orbito-temporal neurofibromatosis (NF). "
11/01/2014 - "Blepharoplasty techniques in the management of orbito-temporal neurofibromatosis."
09/01/2008 - "The function and appearance can be markedly improved after one-stage partial tumor resection, orbital reconstruction and blepharoplasty in patients with type II orbital neurofibromatosis."