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71. Chen B, Sun LD, Zhou FS, Yao FM, Quan C, Fang QY, Chen QP, Fan X, Yang S, Zhang XJ: Identification of two novel mutations in the NF1 gene in Chinese patients with neurofibromatosis type 1. J Eur Acad Dermatol Venereol; 2009 Mar;23(3):362-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Identification of two novel mutations in the NF1 gene in Chinese patients with neurofibromatosis type 1.
  • [MeSH-major] Genes, Neurofibromatosis 1. Mutation. Neurofibromatosis 1 / genetics

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  • (PMID = 18643859.001).
  • [ISSN] 1468-3083
  • [Journal-full-title] Journal of the European Academy of Dermatology and Venereology : JEADV
  • [ISO-abbreviation] J Eur Acad Dermatol Venereol
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 9007-49-2 / DNA
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72. Mantripragada KK, Díaz de Ståhl T, Patridge C, Menzel U, Andersson R, Chuzhanova N, Kluwe L, Guha A, Mautner V, Dumanski JP, Upadhyaya M: Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. Genes Chromosomes Cancer; 2009 Oct;48(10):897-907
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Neurofibromatosis Type I (NF1) is an autosomal dominant disorder characterized by the development of both benign and malignant tumors.
  • [MeSH-major] Comparative Genomic Hybridization / methods. Genes, Neurofibromatosis 1. Nerve Sheath Neoplasms / genetics. Neurofibromatosis 1 / genetics. Oligonucleotide Array Sequence Analysis / methods. Skin Neoplasms / genetics

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  • [Copyright] (c) 2009 Wiley-Liss, Inc.
  • (PMID = 19603524.001).
  • [ISSN] 1098-2264
  • [Journal-full-title] Genes, chromosomes & cancer
  • [ISO-abbreviation] Genes Chromosomes Cancer
  • [Language] eng
  • [Grant] United Kingdom / Cancer Research UK / /
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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73. Titze S, Peters H, Währisch S, Harder T, Guse K, Buske A, Tinschert S, Harder A: Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients. Eur J Hum Genet; 2010 Jan;18(1):81-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
  • Neurofibromatosis type 1 (NF1) is caused by NF1 gene mutations.
  • This finding was not confounded by age.
  • [MeSH-major] Blood Cells / metabolism. DNA Methylation / genetics. MutS Homolog 2 Protein / genetics. Neurofibromatosis 1 / genetics. Promoter Regions, Genetic

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  • (PMID = 19639020.001).
  • [ISSN] 1476-5438
  • [Journal-full-title] European journal of human genetics : EJHG
  • [ISO-abbreviation] Eur. J. Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Adaptor Proteins, Signal Transducing; 0 / DNA-Binding Proteins; 0 / G-T mismatch-binding protein; 0 / MLH1 protein, human; 0 / Nuclear Proteins; EC 3.6.1.- / Adenosine Triphosphatases; EC 3.6.1.- / PMS2 protein, human; EC 3.6.1.3 / MSH2 protein, human; EC 3.6.1.3 / MutS Homolog 2 Protein; EC 6.5.1.- / DNA Repair Enzymes
  • [Other-IDs] NLM/ PMC2987165
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7
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4. Rowe J, Grainger A, Walton L, Radatz M, Kemeny A: Safety of radiosurgery applied to conditions with abnormal tumor suppressor genes. Neurosurgery; 2007 May;60(5):860-4; discussion 860-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • OBJECTIVE: To assess the risk of radiosurgery inducing malignancy in neurofibromatosis-2 (NF2) and von Hippel-Lindau disease.
  • METHODS: A retrospective cohort study of 118 NF2 and 19 von Hippel-Lindau disease patients, totalling 906 and 62 patient-years of follow-up data, respectively.
  • RESULTS: Two cases of intracranial malignancy were identified, both of which occurred in NF2 patients.
  • CONCLUSION: Because gliomas may occur in as many as 4% of NF2 patients, this may not represent an increased risk.
  • We continue to offer radiosurgery treatment to selected NF2 and von Hippel-Lindau disease patients and consider that the late risk of malignancy arising after irradiation must be put in the context of the condition being treated, the treatment options available to these individuals, and their life expectancy.
  • [MeSH-minor] Adult. Cohort Studies. Female. Follow-Up Studies. Humans. Male. Middle Aged. Neurofibromatosis 2 / epidemiology. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / surgery. Retrospective Studies. von Hippel-Lindau Disease / epidemiology. von Hippel-Lindau Disease / genetics. von Hippel-Lindau Disease / surgery

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  • (PMID = 17460521.001).
  • [ISSN] 1524-4040
  • [Journal-full-title] Neurosurgery
  • [ISO-abbreviation] Neurosurgery
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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75. Dereure O: [Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis: an evolving paradigm]. Ann Dermatol Venereol; 2008 Dec;135(12):888-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis: an evolving paradigm].
  • [Transliterated title] Caractérisation moléculaire de SMARCB1 et NF2 dans la schwannomatose familiale et sporadique : un paradigme qui évolue.
  • [MeSH-major] Chromosomal Proteins, Non-Histone. DNA-Binding Proteins. Neurilemmoma / genetics. Neurofibromatosis 2 / genetics. Transcription Factors
  • [MeSH-minor] Animals. Chromosomes, Human, Pair 22 / genetics. Disease Models, Animal. Humans. Mice. Mutation

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  • (PMID = 19084709.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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76. Holland K, Kaye AH: Spinal tumors in neurofibromatosis-2: management considerations - a review. J Clin Neurosci; 2009 Feb;16(2):169-77
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Spinal tumors in neurofibromatosis-2: management considerations - a review.
  • Neurofibromatosis Type 2 (NF-2) is a distinct clinical entity, characterized by multiple intracranial and spinal tumors.
  • While bilateral vestibular schwannomas are the pathological hallmark of the disease, significant morbidity in NF-2 is attributable to the presence of both intramedullary and extramedullary spinal tumors.
  • With the advent of MRI as a screening modality, multiple, extensive spinal tumors in the NF-2 population are often seen, which may be clinically quiescent at the time of initial diagnosis.
  • All NF-2 patients should have routine screening with full spinal MRI at the time of diagnosis, regardless of symptoms.
  • [MeSH-major] Neurofibromatosis 2 / diagnosis. Neurofibromatosis 2 / therapy. Spinal Neoplasms / diagnosis. Spinal Neoplasms / therapy

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  • (PMID = 19101145.001).
  • [ISSN] 0967-5868
  • [Journal-full-title] Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
  • [ISO-abbreviation] J Clin Neurosci
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Scotland
  • [Number-of-references] 44
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77. Li W, Giancotti FG: Merlin's tumor suppression linked to inhibition of the E3 ubiquitin ligase CRL4 (DCAF1). Cell Cycle; 2010 Nov 15;9(22):4433-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The mechanism by which the FERM domain protein Merlin, encoded by the tumor suppressor NF2, restrains cell proliferation is poorly understood.
  • In addition to providing a potential explanation for the diverse effects that loss of Merlin exerts in multiple cell types, these findings suggest that compounds inhibiting CRL4 (DCAF1) may display therapeutic efficacy in Neurofibromatosis type 2 and other cancers driven by Merlin inactivation.

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  • (PMID = 21084862.001).
  • [ISSN] 1551-4005
  • [Journal-full-title] Cell cycle (Georgetown, Tex.)
  • [ISO-abbreviation] Cell Cycle
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / P30 CA008748; United States / NCI NIH HHS / CA / R01 CA152975; United States / NCI NIH HHS / CA / P30 CA08748
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Carrier Proteins; 0 / Neurofibromin 2; EC 6.3.2.19 / Ubiquitin-Protein Ligases
  • [Other-IDs] NLM/ PMC3048042
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78. Simon M, Boström JP, Hartmann C: Molecular genetics of meningiomas: from basic research to potential clinical applications. Neurosurgery; 2007 May;60(5):787-98; discussion 787-98
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Mutations in the NF2 gene probably account for the formation of more than half of all meningiomas.
  • On the other hand, the molecular events underlying the initiation of meningiomas without NF2 mutations have yet to be identified.

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  • (PMID = 17460514.001).
  • [ISSN] 1524-4040
  • [Journal-full-title] Neurosurgery
  • [ISO-abbreviation] Neurosurgery
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 119
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79. Halleck P, Haisch A, Sedlmaier B: [Differential diagnoses of acute bilateral hearing loss in a patient with metastatic bronchial carcinoma]. HNO; 2006 Jul;54(7):553-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Differential diagnoses of acute bilateral hearing loss in a patient with metastatic bronchial carcinoma].
  • The first symptom of an acoustic neuroma in about 50% of the patients is hearing loss, which occurs suddenly in about 5-10% of cases.
  • The discussion ultimately focused on the clinical and radiological signs of bilateral acoustic neuroma.
  • The patient's history and clinical findings yielded no indication of neurofibromatosis (type 1/2).
  • Nevertheless, the constellation of findings suggests that the bilateral hearing loss was caused by a bilateral acoustic neuroma.
  • [MeSH-major] Bronchial Neoplasms / diagnosis. Hearing Loss, Bilateral / diagnosis. Hearing Loss, Bilateral / etiology. Neuroma, Acoustic / diagnosis. Neuroma, Acoustic / secondary
  • [MeSH-minor] Acute Disease. Diagnosis, Differential. Humans. Male. Middle Aged

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  • (PMID = 16132878.001).
  • [ISSN] 0017-6192
  • [Journal-full-title] HNO
  • [ISO-abbreviation] HNO
  • [Language] ger
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Germany
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80. Stewart W, Traynor JP, Cooke A, Griffiths S, Onen NF, Balsitis M, Shah AA, Upadhyaya M, Tobias ES: Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene. Fam Cancer; 2007;6(1):147-52
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene.
  • Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominantly inherited conditions.
  • [MeSH-major] Genes, Neurofibromatosis 1. Germ-Line Mutation. Loss of Heterozygosity. Malignant Carcinoid Syndrome / genetics. Neoplasms, Second Primary / genetics. Neurofibromatosis 1 / genetics. Stomach Neoplasms / genetics

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  • (PMID = 16944271.001).
  • [ISSN] 1389-9600
  • [Journal-full-title] Familial cancer
  • [ISO-abbreviation] Fam. Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Codon, Nonsense; 0 / Neurofibromin 1
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81. Hagel C, Zils U, Peiper M, Kluwe L, Gotthard S, Friedrich RE, Zurakowski D, von Deimling A, Mautner VF: Histopathology and clinical outcome of NF1-associated vs. sporadic malignant peripheral nerve sheath tumors. J Neurooncol; 2007 Apr;82(2):187-92
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • The differences in the clinical course and histopathology of sporadic and neurofibromatosis type 1 (NF1)-associated malignant peripheral nerve sheath tumors (MPNST) were investigated retrospectively.
  • NF1 patients were significantly younger at diagnosis (p<0.001) and had a significantly shorter survival time than sporadic patients (median survival 17 months vs. 42 months, Breslow p<0.05).
  • Most importantly, while histopathological variables correlated with French Fédération Nationale des Centres de Lutte Contre le Cancer grading in sporadic MPNST, this was not the case for NF1-associated tumors.
  • [MeSH-major] Nerve Sheath Neoplasms / pathology. Neurofibromatosis 1 / pathology. Peripheral Nervous System Neoplasms / pathology

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  • (PMID = 17111191.001).
  • [ISSN] 0167-594X
  • [Journal-full-title] Journal of neuro-oncology
  • [ISO-abbreviation] J. Neurooncol.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
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82. Franzin A, Spatola G, Serra C, Picozzi P, Medone M, Milani D, Castellazzi P, Mortini P: Evaluation of hearing function after Gamma Knife surgery of vestibular schwannomas. Neurosurg Focus; 2009 Dec;27(6):E3
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  • [Title] Evaluation of hearing function after Gamma Knife surgery of vestibular schwannomas.
  • OBJECT: Due to technological advances in neuroradiology in recent years, incidental diagnoses of vestibular schwannomas (VSs) have increased.
  • METHODS: Of all patients treated in the authors' hospital between 2001 and 2007, they retrospectively studied 50 patients with a unilateral VS in whom there was serviceable hearing (Gardner-Robertson [GR] Class I or II).
  • Additional inclusion criteria were: no Type 2 neurofibromatosis, no previous treatment, and at least 6 months' follow-up of neuroradiological and audiological data.
  • Serviceable hearing was preserved in 34 patients (68%): 21 (62%) with GR Class I hearing and 13 (38%) with GR Class II hearing.
  • In 19 (58%) of 33 patients with GR Class I function before GKS the same class was maintained posttreatment; 29 (88%) maintained functional hearing (GR Class I or II).
  • Significant prognostic factors for maintaining serviceable hearing were GR Class I function before treatment, symptoms at presentation, patient age younger than 54 years, and Koos Stage T1 disease.
  • The prescribed dose of 13 Gy appears to represent an excellent compromise between controlling the disease and preserving auditory function.
  • [MeSH-major] Hearing Loss / prevention & control. Neuroma, Acoustic / surgery. Postoperative Complications / prevention & control. Radiosurgery / methods

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  • (PMID = 19951056.001).
  • [ISSN] 1092-0684
  • [Journal-full-title] Neurosurgical focus
  • [ISO-abbreviation] Neurosurg Focus
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article
  • [Publication-country] United States
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83. Hottinger AF, Khakoo Y: Update on the management of familial central nervous system tumor syndromes. Curr Neurol Neurosci Rep; 2007 May;7(3):200-7
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  • [Title] Update on the management of familial central nervous system tumor syndromes.
  • Hereditary central nervous tumor syndromes are a varied group of conditions that include neurofibromatosis type 1 and 2, tuberous sclerosis, Von Hippel-Lindau disease, and Cowden, Turcot, and Gorlin syndromes.
  • Familial central nervous system tumors are mostly inherited as autosomal dominant traits and involve germline mutations.
  • [MeSH-major] Central Nervous System Neoplasms. Neoplastic Syndromes, Hereditary
  • [MeSH-minor] Basal Cell Nevus Syndrome / genetics. Basal Cell Nevus Syndrome / pathology. Basal Cell Nevus Syndrome / physiopathology. Basal Cell Nevus Syndrome / therapy. Diagnosis, Differential. Hamartoma Syndrome, Multiple / genetics. Hamartoma Syndrome, Multiple / pathology. Hamartoma Syndrome, Multiple / physiopathology. Hamartoma Syndrome, Multiple / therapy. Humans. Li-Fraumeni Syndrome / genetics. Li-Fraumeni Syndrome / pathology. Li-Fraumeni Syndrome / physiopathology. Li-Fraumeni Syndrome / therapy. Neurofibromatosis 1 / genetics. Neurofibromatosis 1 / pathology. Neurofibromatosis 1 / physiopathology. Neurofibromatosis 1 / therapy. Neurofibromatosis 2 / genetics. Neurofibromatosis 2 / pathology. Neurofibromatosis 2 / physiopathology. Neurofibromatosis 2 / therapy. Tuberous Sclerosis / genetics. Tuberous Sclerosis / pathology. Tuberous Sclerosis / physiopathology. Tuberous Sclerosis / therapy. von Hippel-Lindau Disease / genetics. von Hippel-Lindau Disease / pathology. von Hippel-Lindau Disease / physiopathology. von Hippel-Lindau Disease / therapy

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  • (PMID = 17488585.001).
  • [ISSN] 1528-4042
  • [Journal-full-title] Current neurology and neuroscience reports
  • [ISO-abbreviation] Curr Neurol Neurosci Rep
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 71
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84. Jatana KR, Jacob A, Slone HW, Ray-Chaudhury A, Welling DB: Spinal myxopapillary ependymoma metastatic to bilateral internal auditory canals. Ann Otol Rhinol Laryngol; 2008 Feb;117(2):98-102
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  • [Title] Spinal myxopapillary ependymoma metastatic to bilateral internal auditory canals.
  • OBJECTIVES: We report a rare case of spinal myxopapillary ependymoma metastatic to both internal auditory canals (IACs) and its implications for diagnosing neurofibromatosis type 2 (NF2).
  • METHODS: We present a detailed clinical history, magnetic resonance imaging (MRI), intraoperative photographs, and histopathologic findings from a patient with bilateral IAC lesions, and review the diagnostic criteria for NF2.
  • The diagnosis of NF2 with bilateral vestibular schwannomas was entertained.
  • This finding raised the possibility of other, more unusual IAC lesions.
  • The patient underwent sequential suboccipital craniotomies for tissue diagnosis, and both IAC lesions were found to be myxopapillary ependymomas.
  • Although vestibular schwannomas account for the majority of contrast-enhancing T1-weighted IAC lesions, other uncommon lesions may present in a similar manner.
  • Therefore, both T1-weighted MRI with or without contrast and T2-weighted MRI may be necessary to distinguish vestibular schwannoma from other, more unusual IAC lesions.
  • [MeSH-major] Ear Neoplasms / diagnosis. Ear Neoplasms / secondary. Ependymoma / diagnosis. Ependymoma / secondary. Labyrinth Diseases / diagnosis. Spinal Cord Neoplasms / pathology

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  • (PMID = 18357830.001).
  • [ISSN] 0003-4894
  • [Journal-full-title] The Annals of otology, rhinology, and laryngology
  • [ISO-abbreviation] Ann. Otol. Rhinol. Laryngol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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85. Padmanabhan A, Lee JS, Ismat FA, Lu MM, Lawson ND, Kanki JP, Look AT, Epstein JA: Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI. Proc Natl Acad Sci U S A; 2009 Dec 29;106(52):22305-10
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  • [Title] Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI.
  • Von Recklinghausen neurofibromatosis is a common autosomal dominant genetic disorder characterized by benign and malignant tumors of neural crest origin.
  • Significant progress in understanding the pathophysiology of this disease has occurred in recent years, largely aided by the development of relevant animal models.
  • Von Recklinghausen neurofibromatosis is caused by mutations in the NF1 gene, which encodes neurofibromin, a large protein that modulates the activity of Ras.
  • Development of a zebrafish model of von Recklinghausen neurofibromatosis will allow for structure-function analysis and genetic screens in this tractable vertebrate system.

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  • (PMID = 19966217.001).
  • [ISSN] 1091-6490
  • [Journal-full-title] Proceedings of the National Academy of Sciences of the United States of America
  • [ISO-abbreviation] Proc. Natl. Acad. Sci. U.S.A.
  • [Language] ENG
  • [Grant] United States / NHLBI NIH HHS / HL / K08 HL075179; United States / NHLBI NIH HHS / HL / R01 HL062974; United States / NHLBI NIH HHS / HL / K08-HL075179; United States / NHLBI NIH HHS / HL / R01-HL062974
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Oligodeoxyribonucleotides, Antisense
  • [Other-IDs] NLM/ PMC2799742
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86. McClatchey AI: Neurofibromatosis. Annu Rev Pathol; 2007;2:191-216
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  • [Title] Neurofibromatosis.
  • As familial cancer syndromes, the neurofibromatoses exhibit complex phenotypes, comprising a range of tumor and nontumor manifestations.
  • Although the three recognized forms of neurofibromatosis (NF1, NF2, and schwannomatosis) all feature the development of nervous system tumors, their underlying genetic bases are clearly distinct.
  • Recent progress in delineating the molecular function of the NF1- and NF2-encoded proteins, together with the development and use of manipulable mouse models, has led to important advances in understanding the pathogenesis of many features of neurofibromatosis.
  • An important outcome of the study of neurofibromatosis-associated tumorigenesis has been insight into the more general molecular and cellular bases of nervous system tumors.
  • [MeSH-major] Nervous System Neoplasms / pathology. Neurilemmoma / pathology. Neurofibromatosis 1 / pathology. Neurofibromatosis 2 / pathology
  • [MeSH-minor] Animals. Disease Models, Animal. Humans. Mice. Neurofibromin 1 / genetics. Neurofibromin 1 / metabolism. Neurofibromin 2 / genetics. Neurofibromin 2 / metabolism. Peripheral Nervous System / metabolism. Peripheral Nervous System / pathology. Schwann Cells / metabolism. Schwann Cells / pathology

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  • (PMID = 18039098.001).
  • [ISSN] 1553-4006
  • [Journal-full-title] Annual review of pathology
  • [ISO-abbreviation] Annu Rev Pathol
  • [Language] eng
  • [Grant] United States / NCI NIH HHS / CA / R01CA113733-01
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Review
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 1; 0 / Neurofibromin 2
  • [Number-of-references] 148
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87. Dell'Avanzato R, Carboni F, Palmieri MB, Palmirotta R, Guadagni F, Pippa G, Santeusanio G, Antimi M, Lopez M, Carlini M: Laparoscopic resection of sporadic synchronous gastric and jejunal gastrointestinal stromal tumors: report of a case. Surg Today; 2009;39(4):335-9
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  • Multicentricity of gastrointestinal stromal tumors (GISTs) has been described only in patients with neurofibromatosis type 1 (NF1) or within the small intestine, and different pathogenetic mechanisms are involved.
  • [MeSH-minor] Aged. Exons. Humans. Immunohistochemistry. Laparoscopy. Male. Mutation. Neoplasms, Multiple Primary / diagnosis. Neoplasms, Multiple Primary / surgery. Proto-Oncogene Proteins c-kit / genetics


88. Rodriguez FJ, Giannini C, Asmann YW, Sharma MK, Perry A, Tibbetts KM, Jenkins RB, Scheithauer BW, Anant S, Jenkins S, Eberhart CG, Sarkaria JN, Gutmann DH: Gene expression profiling of NF-1-associated and sporadic pilocytic astrocytoma identifies aldehyde dehydrogenase 1 family member L1 (ALDH1L1) as an underexpressed candidate biomarker in aggressive subtypes. J Neuropathol Exp Neurol; 2008 Dec;67(12):1194-204
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  • [Title] Gene expression profiling of NF-1-associated and sporadic pilocytic astrocytoma identifies aldehyde dehydrogenase 1 family member L1 (ALDH1L1) as an underexpressed candidate biomarker in aggressive subtypes.
  • Pilocytic astrocytomas (PAs) are World Health Organization Grade I gliomas; they most often affect children and young adults and occur in patients with neurofibromatosis type 1 (NF1).

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  • (PMID = 19018242.001).
  • [ISSN] 0022-3069
  • [Journal-full-title] Journal of neuropathology and experimental neurology
  • [ISO-abbreviation] J. Neuropathol. Exp. Neurol.
  • [Language] ENG
  • [Grant] United States / NCI NIH HHS / CA / P50 CA108961; United States / NINDS NIH HHS / NS / T32 NS007494; United States / NINDS NIH HHS / NS / NS007494-05; United States / NINDS NIH HHS / NS / T32 NS07494-04; United States / NINDS NIH HHS / NS / T32 NS007494-05
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Biomarkers, Tumor; 0 / Isoenzymes; 0 / Nerve Tissue Proteins; EC 1.2.1.- / aldehyde dehydrogenase 1; EC 1.2.1.3 / Aldehyde Dehydrogenase; EC 1.2.1.36 / Retinal Dehydrogenase; EC 1.5.1.6 / ALDH1L1 protein, human
  • [Other-IDs] NLM/ NIHMS87254; NLM/ PMC2730602
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89. Denisenko N, Cifuentes-Diaz C, Irinopoulou T, Carnaud M, Benoit E, Niwa-Kawakita M, Chareyre F, Giovannini M, Girault JA, Goutebroze L: Tumor suppressor schwannomin/merlin is critical for the organization of Schwann cell contacts in peripheral nerves. J Neurosci; 2008 Oct 15;28(42):10472-81
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  • Schwannomin/merlin is the product of a tumor suppressor gene mutated in neurofibromatosis type 2 (NF2).
  • Although the consequences of NF2 mutations on Schwann cell proliferation are well established, the physiological role of schwannomin in differentiated cells is not known.
  • To unravel this role, we studied peripheral nerves in mice overexpressing in Schwann cells schwannomin with a deletion occurring in NF2 patients (P0-SCH-Delta39-121) or a C-terminal deletion.
  • Similar but more severe alterations were observed in mice with conditional deletion of the Nf2 gene in Schwann cells.

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  • (PMID = 18923024.001).
  • [ISSN] 1529-2401
  • [Journal-full-title] The Journal of neuroscience : the official journal of the Society for Neuroscience
  • [ISO-abbreviation] J. Neurosci.
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Neurofibromin 2; 0 / Tumor Suppressor Proteins
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90. Dietrich V, Schaller J, Kunze J: [Cutaneous malignant peripheral nerve sheath tumor in neurofibromatosis type 1]. Hautarzt; 2009 Oct;60(10):830-3
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  • [Title] [Cutaneous malignant peripheral nerve sheath tumor in neurofibromatosis type 1].
  • [Transliterated title] Kutaner maligner peripherer Nervenscheidentumor bei Neurofibromatose Typ 1.
  • Patients with neurofibromatosis have an increased risk of developing malignant tumors in comparison to the general population.
  • [MeSH-major] Neurofibromatosis 1 / diagnosis. Skin Neoplasms / diagnosis. Skin Neoplasms / secondary


91. Coudé FX, Mignot C, Lyonnet S, Munnich A: Early grade repetition and inattention associated with neurofibromatosis type 1. J Atten Disord; 2007 Sep;11(2):101-5
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  • [Title] Early grade repetition and inattention associated with neurofibromatosis type 1.
  • OBJECTIVE: The authors analyze the occurrence of grade repetition and inattention in children diagnosed with neurofibromatosis type 1 (NF1).
  • CONCLUSION: Grade repetition is a frequent complication in NF1 and correlates with inattention in individuals with this disease.
  • [MeSH-major] Attention. Attention Deficit Disorder with Hyperactivity / epidemiology. Learning Disorders / epidemiology. Neurofibromatosis 1 / epidemiology


92. Chotai NC, Tang PH, Gan BK, Lim CC: Primitive neuroectodermal tumour metastases mimicking neurofibromatosis type 2. Singapore Med J; 2010 Jun;51(6):e98-102
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  • [Title] Primitive neuroectodermal tumour metastases mimicking neurofibromatosis type 2.
  • Bilateral vestibular schwannomas are the diagnostic features of neurofibromatosis type 2 (NF-2), and are the most common findings associated with the disorder.
  • We report a three-year-old boy who presented with left facial nerve palsy and weight loss with bilateral large cerebellopontine (CP) angle masses that extended into the internal auditory canal on magnetic resonance imaging.
  • The patient also had synchronous tumours in the lateral ventricle and intradural extramedullary spinal canal.
  • The above findings were misinterpreted as NF-2 with bilateral vestibular schwannomas, ventricular meningioma and spinal schwannomas/meningiomas.
  • Although bilateral CP angle masses are characteristic of NF-2, the possibility of diffuse craniospinal malignancy should be considered in a very young child who presents with weight loss and extensive tumours.
  • [MeSH-major] Neuroectodermal Tumors, Primitive / diagnosis. Neurofibromatosis 2 / diagnosis
  • [MeSH-minor] Child, Preschool. Diagnosis, Differential. Facial Paralysis / pathology. Fatal Outcome. Humans. Magnetic Resonance Imaging / methods. Male. Neoplasm Metastasis. Weight Loss


93. Murray AJ, Hughes TA, Neal JW, Howard E, Evans DG, Harper PS: A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2? J Neurol Neurosurg Psychiatry; 2006 Feb;77(2):269-71
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  • [Title] A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?
  • A 54 year old man presented with numerous cutaneous schwannomas, cranial nerve lesions, and spinal cord lesions, but no evidence of vestibular nerve involvement.
  • An identical point mutation in the NF2 gene in the two anatomically distinct tumours was found, confirming this as a case of NF2 mosaicism.
  • [MeSH-major] Neoplasms, Multiple Primary / diagnosis. Neurilemmoma / diagnosis. Neurofibromatosis 2 / diagnosis. Skin Neoplasms / diagnosis
  • [MeSH-minor] Diagnosis, Differential. Genes, Neurofibromatosis 2. Hand. Humans. Male. Middle Aged. Mosaicism. Point Mutation / genetics


94. Yang SM, Yu LM, Yu LM, Han DY: [Technique of hearing preservation during acoustic neuroma surgery]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2008 Aug;43(8):564-9
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  • [Title] [Technique of hearing preservation during acoustic neuroma surgery].
  • OBJECTIVE: To explore the possibility of hearing protection in acoustic neurinoma (AN) resection and to evaluate the effect of dynamic auditory monitoring and the effect of oto-endoscope for hearing protection.
  • Fifteen cases were solitary AN, 3 cases were diagnosed as neurofibromatosis II.
  • RESULTS: In all 18 cases, tumors were resected completely in 16 cases, but sub-totally removed in 2 cases which were II neurofibromatosis.
  • According to House-Brackmann grade system, for 18 AN patients 7 days after operation only 50.0% (9/18) were kept at grade I to II , but 88.9% (16/18) were kept at grade I to II 6 months after operation.
  • [MeSH-major] Hearing Loss / prevention & control. Neuroma, Acoustic / surgery. Otologic Surgical Procedures

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  • (PMID = 18959258.001).
  • [ISSN] 1673-0860
  • [Journal-full-title] Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
  • [ISO-abbreviation] Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] China
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95. Al-Anazi AH, Al-Luwimi IM, Shawarby MA, Mertol T: Mixed vestibular schwannoma and meningioma without neurofibromatosis. Neurosciences (Riyadh); 2009 Oct;14(4):371-3
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  • [Title] Mixed vestibular schwannoma and meningioma without neurofibromatosis.
  • The co-existence of meningioma and schwannoma as 2 distinct histologic components within the same tumor has been described in neurofibromatosis 2 (NF2), but the co-existence of both tumors without evidence of NF2 is much rarer.
  • Here, we are reporting a case of mixed schwannoma with meningioma without clinical evidence of NF2.
  • In an adult Saudi lady with progressive left-sided hearing loss, left cerebellopontine tumor was diagnosed by MRI, and the histopathological diagnosis revealed that this tumor was composed of vestibular schwannoma and meningioma.

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  • (PMID = 21048654.001).
  • [ISSN] 1319-6138
  • [Journal-full-title] Neurosciences (Riyadh, Saudi Arabia)
  • [ISO-abbreviation] Neurosciences (Riyadh)
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Saudi Arabia
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96. de Vries AC, Zwaan CM, van den Heuvel-Eibrink MM: Molecular basis of juvenile myelomonocytic leukemia. Haematologica; 2010 Feb;95(2):179-82
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  • [MeSH-minor] Child. Genes, ras. Humans. Janus Kinases / metabolism. Mutation. Neurofibromatosis 1 / diagnosis. Neurofibromin 1 / genetics. PTEN Phosphohydrolase / metabolism. Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics. Proto-Oncogene Proteins c-cbl / genetics. STAT Transcription Factors / metabolism. Signal Transduction. ras Proteins / metabolism

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  • (PMID = 20139388.001).
  • [ISSN] 1592-8721
  • [Journal-full-title] Haematologica
  • [ISO-abbreviation] Haematologica
  • [Language] eng
  • [Publication-type] Comment; Editorial
  • [Publication-country] Italy
  • [Chemical-registry-number] 0 / Neurofibromin 1; 0 / STAT Transcription Factors; EC 2.7.10.2 / Janus Kinases; EC 3.1.3.48 / PTPN11 protein, human; EC 3.1.3.48 / Protein Tyrosine Phosphatase, Non-Receptor Type 11; EC 3.1.3.67 / PTEN Phosphohydrolase; EC 3.6.5.2 / ras Proteins; EC 6.3.2.- / Proto-Oncogene Proteins c-cbl
  • [Other-IDs] NLM/ PMC2817017
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97. Boyd KP, Gao L, Feng R, Beasley M, Messiaen L, Korf BR, Theos A: Phenotypic variability among café-au-lait macules in neurofibromatosis type 1. J Am Acad Dermatol; 2010 Sep;63(3):440-7
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  • [Title] Phenotypic variability among café-au-lait macules in neurofibromatosis type 1.
  • BACKGROUND: Café-au-lait macules (CALMs) in neurofibromatosis type 1 (NF1) are an early and accessible phenotype in NF1, but have not been extensively studied.
  • METHODS: In all, 24 patients with a diagnosis of NF1 confirmed through clinical diagnosis or molecular genetic testing were recruited from patients seen in the genetics department at the University of Alabama at Birmingham.
  • Subsequent analysis based on genetic mutation type showed significantly darker spots in individuals with germline mutations leading to haploinsufficiency.
  • Further studies may help elucidate the molecular basis of this finding, leading to an increased understanding of the pathogenesis of CALMs in NF1.

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  • [Copyright] Copyright 2009 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.
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  • (PMID = 20605257.001).
  • [ISSN] 1097-6787
  • [Journal-full-title] Journal of the American Academy of Dermatology
  • [ISO-abbreviation] J. Am. Acad. Dermatol.
  • [Language] ENG
  • [Grant] United States / NIAMS NIH HHS / AR / P30 AR050948-040008; United States / NIAMS NIH HHS / AR / AR050948-040008; United States / NIAMS NIH HHS / AR / P30 AR050948-050009; United States / NIAMS NIH HHS / AR / AR050948-050009; United States / NIAMS NIH HHS / AR / P30 AR050948
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Other-IDs] NLM/ NIHMS152370; NLM/ PMC2922676
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98. Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L: Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat; 2008 Feb;29(2):227-31
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  • [Title] Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas.
  • Schwannomatosis is characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas, without involvement of the vestibular nerve, which is instead pathognomonic of neurofibromatosis type 2 (NF2).
  • We report on the molecular analysis of the SMARCB1 and NF2 genes in a series of 21 patients with schwannomatosis and in eight schwannomatosis-associated tumors from four different patients.
  • A novel germline SMARCB1 mutation was found in one patient; inactivating somatic mutations of NF2, associated with loss of heterozygosity (LOH) of 22q, were found in two schwannomas of this patient.
  • This is the second report of a germline SMARCB1 mutation in patients affected by schwannomatosis and the first report of SMARCB1 mutations associated with somatic NF2 mutations in schwannomatosis-associated tumors.
  • The latter observation suggests that a four-hit mechanism involving the SMARCB1 and NF2 genes may be implicated in schwannomatosis-related tumorigenesis.

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  • [Copyright] (c) 2007 Wiley-Liss, Inc.
  • (PMID = 18072270.001).
  • [ISSN] 1098-1004
  • [Journal-full-title] Human mutation
  • [ISO-abbreviation] Hum. Mutat.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Chromosomal Proteins, Non-Histone; 0 / DNA-Binding Proteins; 0 / Neurofibromin 2; 0 / SMARCB1 protein, human; 0 / Transcription Factors
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99. Johannessen CM, Johnson BW, Williams SM, Chan AW, Reczek EE, Lynch RC, Rioth MJ, McClatchey A, Ryeom S, Cichowski K: TORC1 is essential for NF1-associated malignancies. Curr Biol; 2008 Jan 8;18(1):56-62
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  • Inactivating mutations in NF1 underlie the prevalent familial cancer syndrome neurofibromatosis type 1 [1].
  • [MeSH-major] Genes, Neurofibromatosis 1. Neoplasms / genetics. Transcription Factors / physiology
  • [MeSH-minor] Animals. Cell Line. Cyclin D. Cyclins / genetics. Cyclins / metabolism. Disease Models, Animal. Gene Expression Regulation / drug effects. Hypoxia-Inducible Factor 1, alpha Subunit / genetics. Hypoxia-Inducible Factor 1, alpha Subunit / metabolism. Mice. Mice, Inbred C57BL. Mice, Transgenic. Protein Kinase Inhibitors / pharmacology. Protein Kinases / metabolism. Proto-Oncogene Proteins c-akt / metabolism. Sirolimus / pharmacology. TOR Serine-Threonine Kinases


100. Babovic-Vuksanovic D, Ballman K, Michels V, McGrann P, Lindor N, King B, Camp J, Micic V, Babovic N, Carrero X, Spinner R, O'Neill B: Phase II trial of pirfenidone in adults with neurofibromatosis type 1. Neurology; 2006 Nov 28;67(10):1860-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Phase II trial of pirfenidone in adults with neurofibromatosis type 1.
  • We performed an open-label phase II trial of oral pirfenidone in 24 patients with neurofibromatosis type 1 (NF1).
  • [MeSH-major] Antineoplastic Agents / administration & dosage. Neurofibromatosis 1 / drug therapy. Pyridones / administration & dosage






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