91 / 113
91
[21] Stichting Opsporing Erfelijke Tumoren (STOET), “Landelijke richtlijn Neurofibromatosis type 1 (NF1).” 01-
Jul-2010.
[22] R. E. Ferner, S. M. Huson, and D. G. R. Evans,
Neurofibromatoses in Clinical Practice
. Springer, 2011.
[23]D. G. Evans, E. Howard, C. Giblin, T. Clancy, H. Spencer, S. M. Huson, and F. Lalloo, “Birth incidence and
prevalence of tumor-prone syndromes: estimates from a UK family genetic register service,”
Am. J. Med.
Genet. A.
, vol. 152A, no. 2, pp. 327–332, Feb. 2010.
[24] J. M. Friedman,
Neurofibromatosis: phenotype, natural history, and pathogenesis
. Johns Hopkins
University Press, 1999.
[25] R. M. Cawthon, R. Weiss, G. F. Xu, D. Viskochil, M. Culver, J. Stevens, M. Robertson, D. Dunn, R.
Gesteland, and P. O’Connell, “A major segment of the neurofibromatosis type 1 gene: cDNA sequence,
genomic structure, and point mutations,”
Cell
, vol. 62, no. 1, pp. 193–201, Jul. 1990.
[26]M. R. Wallace, D. A. Marchuk, L. B. Andersen, R. Letcher, H. M. Odeh, A. M. Saulino, J. W. Fountain, A.
Brereton, J. Nicholson, A. L. Mitchell, and E. Al, “Type 1 neurofibromatosis gene: identification of a large
transcript disrupted in three NF1 patients,”
Science
, vol. 249, no. 4965, pp. 181–186, Jul. 1990.
[27]H. B. Radtke, C. D. Sebold, C. Allison, J. L. Haidle, and G. Schneider, “Neurofibromatosis Type 1 in Genetic
Counseling Practice: Recommendations of the National Society of Genetic Counselors,”
J. Genet. Couns.
,
vol. 16, no. 4, pp. 387–407, Jul. 2007.
[28]M. Ruggieri, A. L. Gabriele, A. Polizzi, V. Salpietro, F. Nicita, P. Pavone, N. Platania, P. Milone, A.
Distefano, G. Privitera, G. Belfiore, F. Granata, R. Caltabiano, V. Albanese, L. Pavone, and A. Quattrone,
“Natural history of neurofibromatosis type 2 with onset before the age of 1 year,”
neurogenetics
, vol.
14, no. 2, pp. 89–98, Feb. 2013.
[29] C. Lázaro, A. Ravella, A. Gaona, V. Volpini, and X. Estivill, “Neurofibromatosis type 1 due to germ-line
mosaicism in a clinically normal father,”
N. Engl. J. Med.
, vol. 331, no. 21, pp. 1403–1407, Nov. 1994.
[30] I. Bottillo, I. Torrente, V. Lanari, V. Pinna, S. Giustini, L. Divona, A. De Luca, and B. Dallapiccola, “Germline
mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion,”
Am. J. Med.
Genet. A.
, p. n/a–n/a, 2010.
[31] S. Tinschert, I. Naumann, E. Stegmann, A. Buske, D. Kaufmann, G. Thiel, and D. E. Jenne, “Segmental
neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene,”
Eur. J.
Hum. Genet. EJHG
, vol. 8, no. 6, pp. 455–459, Jun. 2000.
[32] V.-F. Mautner, L. Kluwe, R. E. Friedrich, A. C. Roehl, S. Bammert, J. Hogel, H. Spori, D. N. Cooper, and H.
Kehrer-Sawatzki, “Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly
ascertained 1.4 Mb type-1 NF1 deletions,”
J. Med. Genet.
, vol. 47, no. 9, pp. 623–630, Jun. 2010.
[33]M. Venturin, P. Guarnieri, F. Natacci, M. Stabile, R. Tenconi, M. Clementi, C. Hernandez, P. Thompson,
M. Upadhyaya, L. Larizza, and P. Riva, “Mental retardation and cardiovascular malformations in NF1
microdeleted patients point to candidate genes in 17q11.2,”
J. Med. Genet.
, vol. 41, no. 1, pp. 35–41,
Jan. 2004.
[34] L. Kluwe, R. Nguyen, J. Vogt, K. Bengesser, T. Mussotter, R. E. Friedrich, K. Jett, H. Kehrer-Sawatzki, and
V.-F. Mautner, “Internal tumor burden in neurofibromatosis Type I patients with large NF1 deletions,”
Genes. Chromosomes Cancer
, vol. 51, no. 5, pp. 447–451, May 2012.
[35] L. Kluwe, R. Siebert, S. Gesk, R. E. Friedrich, S. Tinschert, H. Kehrer-Sawatzki, and V.-F. Mautner,
“Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene,”
Hum. Mutat.
,
vol. 23, no. 2, pp. 111–116, Feb. 2004.
[36] L. Messiaen, J. Vogt, K. Bengesser, C. Fu, F. Mikhail, E. Serra, C. Garcia-Linares, D. N. Cooper, C. Lazaro,
and H. Kehrer-Sawatzki, “Mosaic type-1 NF1 microdeletions as a cause of both generalized and
segmental neurofibromatosis type-1 (NF1),”
Hum. Mutat.
, vol. 32, no. 2, pp. 213–219, Feb. 2011.
[37]H. Kehrer-Sawatzki, J. Vogt, T. Mußotter, L. Kluwe, D. N. Cooper, and V.-F. Mautner, “Dissecting the
clinical phenotype associated with mosaic type-2 NF1 microdeletions,”
Neurogenetics
, vol. 13, no. 3, pp.
229–236, Aug. 2012.