93 / 113
93
Collaboration, and N. Rahman, “Mutations in RNF135, a gene within the NF1 microdeletion region,
cause phenotypic abnormalities including overgrowth,”
Nat. Genet.
, vol. 39, no. 8, pp. 963–965, Aug.
2007.
[55] K. A. Mensink, R. P. Ketterling, H. C. Flynn, R. A. Knudson, N. M. Lindor, B. A. Heese, R. J. Spinner, and D.
Babovic-Vuksanovic, “Connective tissue dysplasia in five new patients with NF1 microdeletions: further
expansion of phenotype and review of the literature,”
J. Med. Genet.
, vol. 43, no. 2, p. e8, Feb. 2006.
[56] F. Nicita, I. Torrente, A. Spalice, I. Bottillo, L. Papetti, V. Pinna, F. Ursitti, and M. Ruggieri, “Spinal
neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation,”
J.
Clin. Neurosci. Off. J. Neurosurg. Soc. Australas.
, vol. 21, no. 2, pp. 328–330, Feb. 2014.
[57] L. Kluwe, M. Tatagiba, C. Fünsterer, and V.-F. Mautner, “NF1 mutations and clinical spectrum in patients
with spinal neurofibromas,”
J. Med. Genet.
, vol. 40, no. 5, pp. 368–371, May 2003.
[58]M. Upadhyaya, G. Spurlock, L. Kluwe, N. Chuzhanova, E. Bennett, N. Thomas, A. Guha, and V. Mautner,
“The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas,”
Neurogenetics
, vol. 10, no. 3, pp. 251–263, Jul. 2009.
[59] R. E. Ferner, S. M. Huson, and D. G. R. Evans,
Neurofibromatoses in Clinical Practice
. Springer, 2011.
[60]H. Brems, M. Chmara, M. Sahbatou, E. Denayer, K. Taniguchi, R. Kato, R. Somers, L. Messiaen, S. De
Schepper, J. P. Fryns, J. Cools, P. Marynen, G. Thomas, A. Yoshimura, and E. Legius, “Germline loss-of-
function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype,”
Nat Genet
, vol. 39, no. 9,
pp. 1120–6, 2007.
[61] L. E. Janes, J. Sabino, J. A. Matthews, J. C. Papadimitriou, S. E. Strome, and D. P. Singh, “Surgical
management of craniofacial neurofibromatosis type 1 associated tumors,”
J. Craniofac. Surg.
, vol. 24,
no. 4, pp. 1273–1277, Jul. 2013.
[62]D. Singhal, Y.-C. Chen, Y.-J. Tsai, C.-C. Yu, H. C. Chen, Y.-R. Chen, and P. K.-T. Chen, “Craniofacial
Neurofibromatosis: Treatment of the midface deformity,”
J. Cranio-Maxillo-fac. Surg. Off. Publ. Eur.
Assoc. Cranio-Maxillo-fac. Surg.
, vol. 42, no. 5, pp. 595–600, Jul. 2014.
[63]M. H. Erb, N. Uzcategui, R. F. See, and M. A. Burnstine, “Orbitotemporal neurofibromatosis: classification
and treatment,”
Orbit Amst. Neth.
, vol. 26, no. 4, pp. 223–228, Dec. 2007.
[64] V. Lee, N. K. Ragge, and J. R. O. Collin, “Orbitotemporal neurofibromatosis. Clinical features and surgical
management,”
Ophthalmology
, vol. 111, no. 2, pp. 382–388, Feb. 2004.
[65] B. Rilliet, B. Pittet, D. Montandon, A.-P. Narata, S. de Ribaupierre, F. Schils, D. Boscherini, C. Di Rocco,
and N. Ducrey, “[Orbitotemporal facial involvement in type 1 neurofibromatosis (NF1)],”
Neurochirurgie.
, vol. 56, no. 2–3, pp. 257–270, Jun. 2010.
[66]D. T. Oystreck, J. Morales, I. Chaudhry, I. A. Alorainy, S. M. Elkhamary, T. M. U. Pasha, and T. M. Bosley,
“Visual loss in orbitofacial neurofibromatosis type 1,”
Ophthalmology
, vol. 119, no. 10, pp. 2168–2173,
Oct. 2012.
[67]D. Marchac and J. A. Britto, “Remodelling the upper eyelid in the management of orbitopalpebral
neurofibromatosis,”
Br. J. Plast. Surg.
, vol. 58, no. 7, pp. 944–956, Oct. 2005.
[68]W. C. Overweg-Plandsoen, R. G. Weersink, J. H. Sillevis Smitt, P. Fleury, and C. J. van Asperen,
“[Neurofibromatosis type 1: a survey of 195 patients],”
Ned Tijdschr Geneeskd
, vol. 141, no. 13, pp. 624–
9, 1997.
[69]D. V. M. R. MD,
Neurofibromatosis: Phenotype, Natural History, and Pathogenesis
, 2nd edition.
Baltimore: The Johns Hopkins University Press, 1992.
[70] Y. Kodra, S. Giustini, L. Divona, R. Porciello, S. Calvieri, P. Wolkenstein, and D. Taruscio, “Health-Related
Quality of Life in Patients with Neurofibromatosis Type 1,”
Dermatology
, vol. 218, no. 3, pp. 215–220,
2009.
[71]A. Graf, M. A. Landolt, A. C. Mori, and E. Boltshauser, “Quality of life and psychological adjustment in
children and adolescents with neurofibromatosis type 1,”
J. Pediatr.
, vol. 149, no. 3, pp. 348–353, Sep.
2006.