[1]
|
Riccardi, V.M. (1992) Neurofibromatosis: Phenotype, Natural History, and Pathogenesis.
|
[2]
|
Gerber, P.A., Antal, A.S., Neumann, N.J., et al. (2009) Neurofibromatosis. European Journal of Medical Research, 14, 102-105.
|
[3]
|
Lammert, M., Friedman, J.M., Kluwe, L., et al. (2005) Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment. Archives of Dermatology, 141, 71-74. https://doi.org/10.1001/archderm.141.1.71
|
[4]
|
D’Ambrosio, J.A., Langlais, R.P. and Young, R.S. (1988) Jaw and Skull Changes in Neurofibromatosis. Oral Surgery, Oral Medicine, Oral Pathology, 66, 391-396.
https://doi.org/10.1016/0030-4220(88)90252-6
|
[5]
|
Bottillo, I., Ahlquist, T., Brekke, H., et al. (2009) Germline and Somatic NF1 Mutations in Sporadic and NF1-Associated Malignant Peripheral Nerve Sheath Tumours. The Journal of Pathology, 217, 693-701. https://doi.org/10.1002/path.2494
|
[6]
|
Eisenbarth, I., Beyer, K., Krone, W., et al. (2000) Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1. American Journal of Human Genetics, 66, 393-401.
https://doi.org/10.1086/302747
|
[7]
|
Thomson, S.A., Fishbein, L. and Wallace, M.R. (2002) NF1 Mutations and Molecular Testing. Journal of Child Neurology, 17, 555-561.
https://doi.org/10.1177/088307380201700803
|
[8]
|
Daston, M.M., Scrable, H., Nordlund, M., et al. (1992) The Protein Product of the Neurofibromatosis Type 1 Gene Is Expressed at Highest Abundance in Neurons, Schwann Cells, and Oligodendrocytes. Neuron, 8, 415-428.
https://doi.org/10.1016/0896-6273(92)90270-N
|
[9]
|
Malhotra, R. and Ratner, N. (1994) Localization of Neurofibromin to Keratinocytes and Melanocytes in Developing Rat and Human Skin. Journal of Investigative Dermatology, 102, 812-818. https://doi.org/10.1111/1523-1747.ep12379925
|
[10]
|
Gutmann, D.H., Parada, L.F., Silva, A.J., et al. (2012) Neurofibromatosis Type 1: Modeling CNS Dysfunction. Journal of Neuroscience, 32, 14087-14093.
https://doi.org/10.1523/JNEUROSCI.3242-12.2012
|
[11]
|
Cichowski, K. and Jacks, T. (2001) NF1 Tumor Suppressor Gene Function: Narrowing the GAP. Cell, 104, 593-604. https://doi.org/10.1016/S0092-8674(01)00245-8
|
[12]
|
Cappione, A.J., French, B.L. and Skuse, G.R. (1997) A Potential Role for NF1 mRNA Editing in the Pathogenesis of NF1 Tumors. American Journal of Human Genetics, 60, 305-312.
|
[13]
|
Nishi, T., Lee, P.S., Oka, K., et al. (1991) Differential Expression of Two Types of the Neurofibromatosis Type 1 (NF1) Gene Transcripts Related to Neuronal Differentiation. Oncogene, 6, 1555-1559.
|
[14]
|
Bahuau, M., Vidaud, M. and Vidaud, D. (1997) Génétique et physiopathologie moléculaire. John Libbey Eurotext, 3, 623-628.
|
[15]
|
Nishi, T. and Saya, H. (1991) Neurofibromatosis Type 1 (NF1) Gene: Implication in Neuroectodermal Differentiation and Genesis of Brain Tumors. Cancer and Metastasis Reviews, 10, 301-310. https://doi.org/10.1007/BF00554792
|
[16]
|
Skuse, G.R. and Cappione, A.J. (1997) RNA Processing and Clinical Variability in Neurofibromatosis Type 1 (NF1). Human Molecular Genetics, 6, 1707-1712.
https://doi.org/10.1093/hmg/6.10.1707
|
[17]
|
National Institutes of Health Consensus Development Conference (1988) Neurofibromatosis. Conference Statement. Archives of Neurology, 45, 575-578.
|
[18]
|
Gutmann, D.H., Aylsworth, A., Carey, J.C., et al. (1997) The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2. JAMA, 278, 51-57. https://doi.org/10.1001/jama.1997.03550010065042
|
[19]
|
Ferner, R.E., Huson, S.M., Thomas, N., et al. (2007) Guidelines for the Diagnosis and Management of Individuals with Neurofibromatosis 1. Journal of Medical Genetics, 44, 81-88. https://doi.org/10.1136/jmg.2006.045906
|
[20]
|
Cnossen, M.H., van der Est, M.N., Breuning, M.H., et al. (1997) Deletions Spanning the Neurofibromatosis Type 1 Gene: Implications for Genotype-Phenotype Correlations in Neurofibromatosis Type 1? Human Mutation, 9, 458-464.
https://doi.org/10.1002/(SICI)1098-1004(1997)9:5<458::AID-HUMU13>3.0.CO;2-1
|
[21]
|
Leppig, K.A., Kaplan, P., Viskochil, D., et al. (1997) Familial Neurofibromatosis 1 Microdeletions: Cosegregation with Distinct Facial Phenotype and Early Onset of Cutaneous Neurofibromata. American Journal of Medical Genetics, 73, 197-204.
https://doi.org/10.1002/(SICI)1096-8628(1997)73:2<197::AID-AJMG17>3.0.CO;2-P
|
[22]
|
De Raedt, T., Brems, H., Wolkenstein, P., et al. (2003) Elevated Risk for MPNST in NF1 Microdeletion Patients. American Journal of Human Genetics, 72, 1288-1292.
https://doi.org/10.1086/374821
|
[23]
|
Hyman, S.L., Shores, A. and North, K.N. (2005) The Nature and Frequency of Cognitive Deficits in Children with Neurofibromatosis Type 1. Neurology, 65, 1037-1044. https://doi.org/10.1212/01.wnl.0000179303.72345.ce
|
[24]
|
Bolande, R.P. (1981) Neurofibromatosis—The Quintessential Neurocristopathy: Pathogenetic Concepts and Relationships. Advances in Neurology, 29, 67-75.
|
[25]
|
Kuratani, S. (2005) Craniofacial Development and the Evolution of the Vertebrates: The Old Problems on a New Background. Zoological Science, 22, 1-19.
https://doi.org/10.2108/zsj.22.1
|
[26]
|
Shapiro, S.D., Abramovitch, K., Van Dis, M.L., et al. (1984) Neurofibromatosis: Oral and Radiographic Manifestations. Oral Surgery, Oral Medicine, Oral Pathology, 58, 493-498. https://doi.org/10.1016/0030-4220(84)90350-5
|
[27]
|
Jimbow, K., Szabo, G. and Fitzpatrick, T.B. (1973) Ultrastructure of Giant Pigment Granules (Macromelanosomes) in the Cutaneous Pigmented Macules of Neurofibromatosis. Journal of Investigative Dermatology, 61, 300-309.
https://doi.org/10.1111/1523-1747.ep12676518
|
[28]
|
Martuza, R.L., Philippe, I., Fitzpatrick, T.B., et al. (1985) Melanin Macroglobules as a Cellular Marker of Neurofibromatosis: A Quantitative Study. Journal of Investigative Dermatology, 85, 347-350.
https://doi.org/10.1111/1523-1747.ep12276952
|
[29]
|
De Schepper, S., Boucneau, J., Lambert, J., et al. (2005) Pigment Cell-Related Manifestations in Neurofibromatosis Type 1: An Overview. Pigment Cell Research, 18, 13-24. https://doi.org/10.1111/j.1600-0749.2004.00206.x
|
[30]
|
Kamra, H.T., Dantkale, S.S., Birla, K., et al. (2013) Plexiform Neurofibroma in the Submandibular Gland Along with Small Diffuse Neurofibroma in the Floor of the Mouth But without Neurofibromatosis-1: A Rare Case Report. Ecancermedicalscience, 7, 313.
|
[31]
|
Dugoff, L. and Sujansky, E. (1996) Neurofibromatosis Type 1 and Pregnancy. American Journal of Medical Genetics, 66, 7-10.
https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1<7::AID-AJMG2>3.0.CO;2-R
|
[32]
|
Cunha, K.S., Barboza, E.P. and Da Fonseca, E.C. (2003) Identification of Growth Hormone Receptor in Localised Neurofibromas of Patients with Neurofibromatosis Type 1. Journal of Clinical Pathology, 56, 758-763.
https://doi.org/10.1136/jcp.56.10.758
|
[33]
|
Marocchio, L.S., Oliveira, D.T., Pereira, M.C., et al. (2007) Sporadic and Multiple Neurofibromas in the Head and Neck Region: A Retrospective Study of 33 Years. Clinical Oral Investigations, 11, 165-169.
https://doi.org/10.1007/s00784-006-0096-6
|
[34]
|
Bardellini, E., Amadori, F., Flocchini, P., et al. (2011) Oral Findings in 50 Children with Neurofibromatosis Type 1. A Case Control Study. European Journal of Paediatric Dentistry, 12, 256-260.
|
[35]
|
Kumar, D. (2008) Disorders of the Genome Architecture: A Review. Genome Medicine, 2, 69-76. https://doi.org/10.1007/s11568-009-9028-2
|
[36]
|
Bongiorno, M.R., Pistone, G. and Arico, M. (2006) Manifestations of the Tongue in Neurofibromatosis Type 1. Oral Diseases, 12, 125-129.
https://doi.org/10.1111/j.1601-0825.2005.01168.x
|
[37]
|
Jouhilahti, E.M., Visnapuu, V., Soukka, T., et al. (2012) Oral Soft Tissue Alterations in Patients with Neurofibromatosis. Clinical Oral Investigations, 16, 551-558.
https://doi.org/10.1007/s00784-011-0519-x
|
[38]
|
Maruyama, M., Fushiki, H. and Watanabe, Y. (2011) Solitary Neurofibroma of the Floor of the Mouth: A Case Report. Case Reports in Otolaryngology, 2011, Article ID: 967896. https://doi.org/10.1155/2011/967896
|
[39]
|
Evans, D.G., Baser, M.E., McGaughran, J., et al. (2002) Malignant Peripheral Nerve Sheath Tumours in Neurofibromatosis 1. Journal of Medical Genetics, 39, 311-314.
https://doi.org/10.1136/jmg.39.5.311
|
[40]
|
Ozturk, O. and Tutkun, A. (2012) A Case Report of a Malignant Peripheral Nerve Sheath Tumor of the Oral Cavity in Neurofibromatosis Type 1. Case Reports in Otolaryngology, 2012, Article ID: 936735.
|
[41]
|
Weiss, S.W., Langloss, J.M. and Enzinger, F.M. (1983) Value of S-100 Protein in the Diagnosis of Soft Tissue Tumors with Particular Reference to Benign and Malignant Schwann Cell Tumors. Laboratory Investigation, 49, 299-308.
|
[42]
|
Hirose, T., Tani, T., Shimada, T., et al. (2003) Immunohistochemical Demonstration of EMA/Glut1-Positive Perineurial Cells and CD34-Positive Fibroblastic Cells in Peripheral Nerve Sheath Tumors. Modern Pathology, 16, 293-298.
https://doi.org/10.1097/01.MP.0000062654.83617.B7
|
[43]
|
Mahajan, A., Dixit, J. and Bhardwaj, A. (2010) Gingival Enlargement in Neurofibromatosis Type 1: A Case Report and Literature Review. The Journal of Contemporary Dental Practice, 11, 57-63.
|
[44]
|
Shetty, B., Umesh, Y., Kranti, K., et al. (2013) Periodontal Manifestations of Von Recklinghausen Neuro Fibromatosis. Journal of Indian Society of Periodontology, 17, 253-256. https://doi.org/10.4103/0972-124X.113092
|
[45]
|
Fournier, B.P., Ferre, F.C., Couty, L., et al. (2010) Multipotent Progenitor Cells in Gingival Connective Tissue. Tissue Engineering Part A, 16, 2891-2899.
https://doi.org/10.1089/ten.tea.2009.0796
|
[46]
|
Hakkinen, L., Larjava, H. and Fournier, B.P. (2014) Distinct Phenotype and Therapeutic Potential of Gingival Fibroblasts. Cytotherapy, 16, 1171-1186.
https://doi.org/10.1016/j.jcyt.2014.04.004
|
[47]
|
Ozbayrak, S., Dumlu, A. and Ercalik-Yalcinkaya, S. (2000) Treatment of Melanin-Pigmented Gingiva and Oral Mucosa by CO2 Laser. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, 90, 14-15.
https://doi.org/10.1067/moe.2000.106396
|
[48]
|
Yeh, C.J. (1998) Cryosurgical Treatment of Melanin-Pigmented Gingiva. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, 86, 660-663.
https://doi.org/10.1016/S1079-2104(98)90199-8
|
[49]
|
Almas, K. and Sadig, W. (2002) Surgical Treatment of Melanin-Pigmented Gingiva; an Esthetic Approach. Indian Journal of Dental Research, 13, 70-73.
|
[50]
|
Visnapuu, V., Peltonen, S., Ellila, T., et al. (2007) Periapical Cemental Dysplasia Is Common in Women with NF1. European Journal of Medical Genetics, 50, 274-280.
https://doi.org/10.1016/j.ejmg.2007.04.001
|
[51]
|
Doufexi, A., Mina, M. and Ioannidou, E. (2005) Gingival Overgrowth in Children: Epidemiology, Pathogenesis, and Complications. A Literature Review. Journal of Periodontology, 76, 3-10. https://doi.org/10.1902/jop.2005.76.1.3
|
[52]
|
Muller, H. and Slootweg, P.J. (1981) Maxillofacial Deformities in Neurofibromatosis. Journal of Maxillofacial Surgery, 9, 89-95.
https://doi.org/10.1016/S0301-0503(81)80022-7
|
[53]
|
Lorson, E.L., DeLong, P.E., Osbon, D.B., et al. (1977) Neurofibromatosis with Central Neurofibroma of the Mandible: Review of the Literature and Report of Case. The Journal of Oral Surgery, 35, 733-738.
|
[54]
|
Visnapuu, V., Peltonen, S., Tammisalo, T., et al. (2012) Radiographic Findings in the Jaws of Patients with Neurofibromatosis 1. Journal of Oral and Maxillofacial Surgery, 70, 1351-1357. https://doi.org/10.1016/j.joms.2011.06.204
|
[55]
|
Avcu, N., Kansu, O., Uysal, S., et al. (2009) Cranio-Orbital-Temporal Neurofibromatosis with Cerebral Hemiatrophy Presenting as an Intraoral Mass: A Case Report. Journal of the California Dental Association, 37, 119-121.
|
[56]
|
Krishnamoorthy, B., Singh, P., Gundareddy, S.N., et al. (2013) Notching in the Posterior Border of the Ramus of Mandible in a Patient with Neurofibromatosis Type I—A Case Report. Journal of Clinical and Diagnostic Research, 7, 2390-2391.
https://doi.org/10.7860/JCDR/2013/5952.3534
|
[57]
|
Friedrich, R.E., Stelljes, C., Hagel, C., et al. (2010) Dysplasia of the Orbit and Adjacent Bone Associated with Plexiform Neurofibroma and Ocular Disease in 42 NF-1 Patients. Anticancer Research, 30, 1751-1764.
|
[58]
|
Alwan, S., Armstrong, L., Joe, H., et al. (2007) Associations of Osseous Abnormalities in Neurofibromatosis 1. American Journal of Medical Genetics Part A, 143, 1326-1333. https://doi.org/10.1002/ajmg.a.31754
|
[59]
|
Stevenson, D.A., Yan, J., He, Y., et al. (2011) Multiple Increased Osteoclast Functions in Individuals with Neurofibromatosis Type 1. American Journal of Medical Genetics Part A, 155, 1050-1059. https://doi.org/10.1002/ajmg.a.33965
|
[60]
|
Friedrich, R.E., Giese, M., Schmelzle, R., et al. (2003) Jaw Malformations plus Displacement and Numerical Aberrations of Teeth in Neurofibromatosis Type 1: A Descriptive Analysis of 48 Patients Based on Panoramic Radiographs and Oral Findings. Journal of Cranio-Maxillofacial Surgery, 31, 1-9.
https://doi.org/10.1016/S1010-5182(02)00160-9
|
[61]
|
Van Damme, P.A., Freihofer, H.P. and De Wilde, P.C. (1996) Neurofibroma in the Articular Disc of the Temporomandibular Joint: A Case Report. Journal of Cranio-Maxillofacial Surgery, 24, 310-313.
https://doi.org/10.1016/S1010-5182(96)80065-5
|
[62]
|
Friedrich, R.E., Giese, M., Stelljes, C., et al. (2012) Size of Tooth Crowns and Position of Teeth Concerning the Extension of Facial Plexiform Neurofibroma in Patients with Neurofibromatosis Type 1. Anticancer Research, 32, 2207-2214.
|
[63]
|
Lammert, M., Friedrich, R.E., Friedman, J.M., et al. (2007) Early Primary Tooth Eruption in Neurofibromatosis 1 Individuals. European Journal of Oral Sciences, 115, 425-426. https://doi.org/10.1111/j.1600-0722.2007.00474.x
|
[64]
|
Jaasaari, P., Visnapuu, V., Nystrom, M., et al. (2012) Dental Age in Patients with Neurofibromatosis 1. European Journal of Oral Sciences, 120, 549-552.
https://doi.org/10.1111/j.1600-0722.2012.01000.x
|
[65]
|
Curtin, J.P. and McCarthy, S.W. (1997) Perineural Fibrous Thickening within the Dental Pulp in Type 1 Neurofibromatosis: A Case Report. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, 84, 400-403.
https://doi.org/10.1016/S1079-2104(97)90038-X
|
[66]
|
Almeida, P.N., Souza, G.T., de Souza, C.M., et al. (2015) Proposing the Use of Dental Pulp Stem Cells as a Suitable Biological Model of Neurofibromatosis Type 1. Child’s Nervous System, 31, 7-13. https://doi.org/10.1007/s00381-014-2599-9
|
[67]
|
Tucker, T., Birch, P., Savoy, D.M., et al. (2007) Increased Dental Caries in People with Neurofibromatosis 1. Clinical Genetics, 72, 524-527.
https://doi.org/10.1111/j.1399-0004.2007.00886.x
|
[68]
|
Tsang, E.S., Birch, P., Friedman, J.M., et al. (2010) Prevalence of Dental Caries in Children with Neurofibromatosis 1. Clinical Oral Investigations, 14, 479-480.
https://doi.org/10.1007/s00784-009-0361-6
|
[69]
|
Visnapuu, V., Pienihakkinen, K., Peltonen, S., et al. (2011) Neurofibromatosis 1 and Dental Caries. Clinical Oral Investigations, 15, 119-121.
https://doi.org/10.1007/s00784-009-0341-x
|
[70]
|
Malcolm, E.K. and Lopes, M.B. (2002) April 2002: 35-Year-Old Healthy Man with Enlarging Right Parotid Mass. Brain Pathology, 12, 515-621.
|
[71]
|
Thompson, M., Cheng, L.H., Stewart, J., et al. (2004) A Paediatric Case of a Solitary Fibrous Tumour of the Parotid Gland. International Journal of Pediatric Otorhinolaryngology, 68, 481-487. https://doi.org/10.1016/j.ijporl.2003.10.023
|
[72]
|
Yamada, N., Uchinuma, E., Shioya, N., et al. (1992) Plexiform Neurofibromatosis in an Infant. British Journal of Plastic Surgery, 45, 175-176.
https://doi.org/10.1016/0007-1226(92)90182-W
|
[73]
|
Derekoy, S. and Sefali, M. (2000) Plexiform Neurofibroma of the Submandibular Gland. The Journal of Laryngology & Otology, 114, 643-645.
https://doi.org/10.1258/0022215001906390
|
[74]
|
Aribandi, M., Wood, W.E., Elston, D.M., et al. (2006) CT Features of Plexiform Neurofibroma of the Submandibular Gland. American Journal of Neuroradiology, 27, 126-128.
|
[75]
|
Tsutsumi, T., Oku, T. and Komatsuzaki, A. (1996) Solitary Plexiform Neurofibroma of the Submandibular Salivary Gland. The Journal of Laryngology & Otology, 110, 1173-1175. https://doi.org/10.1017/S0022215100136072
|
[76]
|
Cunha, K.S., Rozza-de-Menezes, R.E., Luna, E.B., et al. (2015) High Prevalence of Hyposalivation in Individuals with Neurofibromatosis 1: A Case-Control Study. Orphanet Journal of Rare Diseases, 10, 24.
https://doi.org/10.1186/s13023-015-0239-4
|