Health Supervision for Children With Neurofibromatosis
Hersh and Committee on Genetics
Pediatrics 2008;121:633-642.
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Neurofibromin as a regulator of melanocyte development and differentiation
Diwakar et al.
J. Cell Sci. 2008;121:167-177.
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Pheochromocytoma: an update on genetics and management
Karagiannis et al.
Endocr Relat Cancer 2007;14:935-956.
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Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification
De Luca et al.
J. Med. Genet. 2007;44:800-808.
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Neurofibromatosis type 1 with involvement of the enteric nerves
Hanemann et al.
J. Neurol. Neurosurg. Psychiatry 2007;78:1163-1164.
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Succinate Dehydrogenase B Gene Mutations Predict Survival in Patients with Malignant Pheochromocytomas or Paragangliomas
Amar et al.
J. Clin. Endocrinol. Metab. 2007;92:3822-3828.
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Myxoid neurofibromas of the breast: mammographical, sonographical and MRI appearances
Gokalp et al.
Br. J. Radiol. 2007;80:e234-e237.
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Germline NF1 Mutational Spectra and Loss-of-Heterozygosity Analyses in Patients with Pheochromocytoma and Neurofibromatosis Type 1
Bausch et al.
J. Clin. Endocrinol. Metab. 2007;92:2784-2792.
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Soft Tissue Diffuse Neurofibromas: Sonographic Findings
Chen et al.
J Ultrasound Med 2007;26:513-518.
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The role of surgical biopsy in the diagnosis of glioma in individuals with neurofibromatosis-1
Leonard et al.
Neurology 2006;67:1509-1512.
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Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1
Lammert et al.
J. Med. Genet. 2006;43:810-813.
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Commentary on "Inferior Mesenteric Artery Aneurysm Combined With Renal Artery Stenosis in a Patient With Neurofibromatosis"
Delis
PERSPECT VASC SURG ENDOVASC THER 2006;18:221-223.
Neurofibromatosis Type 1: From Presentation and Diagnosis to Vascular and Endovascular Therapy
Delis and Gloviczki
PERSPECT VASC SURG ENDOVASC THER 2006;18:226-237.
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Comprehensive Mutation Scanning of NF1 in Apparently Sporadic Cases of Pheochromocytoma
Bausch et al.
J. Clin. Endocrinol. Metab. 2006;91:3478-3481.
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Should Patients with Apparently Sporadic Pheochromocytomas or Paragangliomas be Screened for Hereditary Syndromes?
Jimenez et al.
J. Clin. Endocrinol. Metab. 2006;91:2851-2858.
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Case records of the Massachusetts General Hospital. Case 23-2006. A 36-year-old man with numbness in the right hand and hypertension.
Iliopoulos et al.
NEJM 2006;355:394-402.
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Increasing the specificity of diagnostic criteria for schwannomatosis
Baser et al.
Neurology 2006;66:730-732.
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Lack of Evidence for an Association Between Neurofibromatosis and Pulmonary Fibrosis
Ryu et al.
Chest 2005;128:2381-2386.
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Middle Aortic Syndrome: From Presentation to Contemporary Open Surgical and Endovascular Treatment
Delis and Gloviczki
PERSPECT VASC SURG ENDOVASC THER 2005;17:187-203.
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Management of Head and Neck Plexiform Neurofibromas in Pediatric Patients With Neurofibromatosis Type 1
Wise et al.
Arch Otolaryngol Head Neck Surg 2005;131:712-718.
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Association between benign and malignant peripheral nerve sheath tumors in NF1
Tucker et al.
Neurology 2005;65:205-211.
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Diagnostic criteria for schwannomatosis
MacCollin et al.
Neurology 2005;64:1838-1845.
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Neurofibromin Regulates Neural Stem Cell Proliferation, Survival, and Astroglial Differentiation In Vitro and In Vivo
Dasgupta and Gutmann
J. Neurosci. 2005;25:5584-5594.
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Case 13-2005 - A 48-Year-Old Man with Weakness of the Limbs and Multiple Tumors of Spinal Nerves
Korf et al.
NEJM 2005;352:1800-1808.
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Superficial Neurofibroma: A Lesion with Unique MRI Characteristics in Patients with Neurofibromatosis Type 1
Lim et al.
Am. J. Roentgenol. 2005;184:962-968.
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From the Archives of the AFIP: Abdominal Neoplasms in Patients with Neurofibromatosis Type 1: Radiologic-Pathologic Correlation
Levy et al.
RadioGraphics 2005;25:455-480.
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Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment
Lammert et al.
Arch Dermatol 2005;141:71-74.
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Gastrointestinal Stromal Tumors in Patients with Neurofibromatosis: Imaging Features with Clinicopathologic Correlation
Levy et al.
Am. J. Roentgenol. 2004;183:1629-1636.
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Ophthalmological manifestations in segmental neurofibromatosis type 1
Ruggieri et al.
Br. J. Ophthalmol. 2004;88:1429-1433.
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Mechanisms and Roles of Axon-Schwann Cell Interactions
Corfas et al.
J. Neurosci. 2004;24:9250-9260.
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Clinical picture of bilateral vestibular schwannomas, sudden bilateral hearing loss, and aviation
Healy and Wood
Neurology 2004;63:933-933.
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N-Butylcyanoacrylate Embolization of a Middle Meningeal Artery Aneurysm in a Patient with Neurofibromatosis Type 2
Lesley et al.
Am. J. Neuroradiol. 2004;25:1414-1416.
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Circulating Growth Factor Levels Are Associated with Tumorigenesis in Neurofibromatosis Type 1
Mashour et al.
Clin. Cancer Res. 2004;10:5677-5683.
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The Diagnosis and Medical Management of Advanced Neuroendocrine Tumors
Kaltsas et al.
Endocr. Rev. 2004;25:458-511.
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Preliminary observations on genetic alterations in pilocytic astrocytomas associated with neurofibromatosis 1
Tada et al.
Neuro Oncol 2003;5:228-234.
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Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)
Bovie et al.
J. Med. Genet. 2003;40:682-684.
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Pheochromocytoma: The Expanding Genetic Differential Diagnosis
Bryant et al.
JNCI J Natl Cancer Inst 2003;95:1196-1204.
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Hypertrophic Neuropathies and Malignant Peripheral Nerve Sheath Tumors in Transgenic Mice Overexpressing Glial Growth Factor {beta}3 in Myelinating Schwann Cells
Huijbregts et al.
J. Neurosci. 2003;23:7269-7280.
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Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients
Ars et al.
J. Med. Genet. 2003;40:e82-82.
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NF1 mutations and clinical spectrum in patients with spinal neurofibromas
Kluwe et al.
J. Med. Genet. 2003;40:368-371.
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Progesterone Receptor Expression in Neurofibromas
McLaughlin and Jacks
Cancer Res. 2003;63:752-755.
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Clinical Risk Factors for Mortality in Patients With Neurofibromatosis 1: A Cohort Study of 378 Patients
Khosrotehrani et al.
Arch Dermatol 2003;139:187-191.
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Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas
Kluwe et al.
J. Med. Genet. 2003;40:109-114.
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MR Imaging of Spinal Tumors in Children with Neurofibromatosis 1
Khong et al.
Am. J. Roentgenol. 2003;180:413-417.
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Evaluation of clinical diagnostic criteria for neurofibromatosis 2
Baser et al.
Neurology 2002;59:1759-1765.
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Review Article : Neurofibromatosis 1: Clinical Manifestations and Diagnostic Criteria
Friedman
J Child Neurol 2002;17:548-554.
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Review Article : Neurofibromas in Children With Neurofibromatosis 1
Rosser and Packer
J Child Neurol 2002;17:585-591.
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Review Article : Neurofibromin in the Brain
Gutmann
J Child Neurol 2002;17:592-601.
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Review Article : Neurofibromatosis 1: Clinical Review and Exceptions to the Rules
Young et al.
J Child Neurol 2002;17:613-621.
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Development and Implementation of a Carboplatin Desensitization Protocol for Children with Neurofibromatosis, Type 1 and Hypersensitivity Reactions in an Outpatient Oncology Clinic
Ogle et al.
Journal of Pediatric Oncology Nursing 2002;19:122-126.
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Altered Calcium-Mediated Cell Signaling in Keratinocytes Cultured from Patients with Neurofibromatosis Type 1
Korkiamaki et al.
Am. J. Pathol. 2002;160:1981-1990.
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Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2
Sperfeld et al.
Brain 2002;125:996-1004.
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Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): A retrospective study of 104 patients
Guillamo et al.
Brain 2002;126:152-160.
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Optic Pathway Glioma: Correlation of Imaging Findings with the Presence of Neurofibromatosis
Kornreich et al.
Am. J. Neuroradiol. 2001;22:1963-1969.
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Quality-of-Life Impairment in Neurofibromatosis Type 1: A Cross-sectional Study of 128 Cases
Wolkenstein et al.
Arch Dermatol 2001;137:1421-1425.
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Cerebellopontine Angle Tumor Composed of Schwann and Meningeal Proliferations
Chen et al.
Arch Otolaryngol Head Neck Surg 2001;127:1385-1389.
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Lack of Evidence for an Association Between Neurofibromatosis Type I and Intracranial Aneurysms: Autopsy Study and Review of the Literature
Conway et al.
Stroke 2001;32:2481-2485.
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NF1 Deletions in S-100 Protein-Positive and Negative Cells of Sporadic and Neurofibromatosis 1 (NF1)-Associated Plexiform Neurofibromas and Malignant Peripheral Nerve Sheath Tumors
Perry et al.
Am. J. Pathol. 2001;159:57-61.
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A clinical study of patients with multiple isolated neurofibromas
Blakley et al.
J. Med. Genet. 2001;38:485-488.
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The clinical and diagnostic implications mosaicism in the neurofibromatoses
Ruggieri and Huson
Neurology 2001;56:1433-1443.
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Why do benign astrocytomas become malignant in NF1?
Ruggieri and Packer
Neurology 2001;56:827-827.
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Neurofibromatosis: clinical presentations and anaesthetic implications
Hirsch et al.
Br J Anaesth 2001;86:555-564.
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Ablation of NF1 function in neurons induces abnormal development of cerebral cortex and reactive gliosis in the brain
Zhu et al.
Genes Dev. 2001;15:859-876.
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High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
Bruder et al.
Hum Mol Genet 2001;10:271-282.
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Tumorigenic Properties of Neurofibromin-Deficient Neurofibroma Schwann Cells
Muir et al.
Am. J. Pathol. 2001;158:501-513.
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Intramedullary and Spinal Canal Tumors in Patients with Neurofibromatosis 2: MR Imaging Findings and Correlation with Genotype
Patronas et al.
Radiology 2001;218:434-442.
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Neurofibromatosis type 2
Evans et al.
J. Med. Genet. 2000;37:897-904.
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Growth in North American white children with neurofibromatosis 1 (NF1)
Szudek et al.
J. Med. Genet. 2000;37:933-938.
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A clinical assessment of neurofibromatosis type 1 (NF1) and segmental NF in northern Finland
POYHONEN
J. Med. Genet. 2000;37:43e-43.
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Malignancy in Neurofibromatosis Type 1
Korf
The Oncologist 2000;5:477-485.
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Occult Neurofibroma and Increased S100 Protein in the Skin of Patients With Neurofibromatosis Type 1: New Insight to the Etiopathomechanism of Neurofibromas
Karvonen et al.
Arch Dermatol 2000;136:1207-1209.
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Pathological Case of the Month
Arnold et al.
Arch Pediatr Adolesc Med 2000;154:961-962.
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Evidence based medicine in practice: lessons from a Scottish clinical genetics project
Campbell et al.
J. Med. Genet. 2000;37:684-691.
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Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland
POYHONEN et al.
J. Med. Genet. 2000;37:632-636.
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Clinical and molecular correlates of somatic mosaicism in neurofibromatosis 2
BASER et al.
J. Med. Genet. 2000;37:542-543.
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Use of ""unidentified bright objects"" on MRI for diagnosis of neurofibromatosis 1 in children
DeBella et al.
Neurology 2000;54:1646-1651.
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Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1
Rutkowski et al.
Hum Mol Genet 2000;9:1059-1066.
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Bilateral Diaphragm Paralysis Secondary to Central von Recklinghausen’s Disease
Hassoun and Celli
Chest 2000;117:1196-1200.
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Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children
DeBella et al.
Pediatrics 2000;105:608-614.
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The question of familial meningiomas and schwannomas:: NF2B or not to be?
King and Gutmann
Neurology 2000;54:4-4.
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Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas
Antinheimo et al.
Neurology 2000;54:71-71.
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NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
Dorschner et al.
Hum Mol Genet 2000;9:35-46.
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Expression of the Neurofibromatosis Type 2 Gene in Human Tissues
den Bakker et al.
J. Histochem. Cytochem. 1999;47:1471-1480.
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Learning Disabilities in Neurofibromatosis 1: Sizing Up the Brain
Gutmann
Arch Neurol 1999;56:1322-1323.
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Neurology and the skin
Hurko and Provost
J. Neurol. Neurosurg. Psychiatry 1999;66:417-430.
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Neurological complications of neurofibromatosis type 1 in adulthood
Creange et al.
Brain 1999;122:473-481.
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Mutations of the NF1 Gene in Children With Juvenile Myelomonocytic Leukemia Without Clinical Evidence of Neurofibromatosis, Type 1
Side et al.
Blood 1998;92:267-272.
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Recent Insights Into Neurofibromatosis Type 1: Clear Genetic Progress
Gutmann
Arch Neurol 1998;55:778-780.
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A role for Pak protein kinases in Schwann cell transformation
Tang et al.
Proc. Natl. Acad. Sci. USA 1998;95:5139-5144.
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Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart
Lakkis and Epstein
Development 1998;125:4359-4367.
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Single Cell Ras-GTP Analysis Reveals Altered Ras Activity in a Subpopulation of Neurofibroma Schwann Cells but Not Fibroblasts
Sherman et al.
J. Biol. Chem. 2000;275:30740-30745.
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