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[38]M. Upadhyaya, S. M. Huson, M. Davies, N. Thomas, N. Chuzhanova, S. Giovannini, D. G. Evans, E.
Howard, B. Kerr, S. Griffiths, C. Consoli, L. Side, D. Adams, M. Pierpont, R. Hachen, A. Barnicoat, H. Li, P.
Wallace, J. P. Van Biervliet, D. Stevenson, D. Viskochil, D. Baralle, E. Haan, V. Riccardi, P. Turnpenny, C.
Lazaro, and L. Messiaen, “An absence of cutaneous neurofibromas associated with a 3-bp inframe
deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1
genotype-phenotype correlation,”
Am. J. Hum. Genet.
, vol. 80, no. 1, pp. 140–151, Jan. 2007.
[39] R. van Minkelen, Y. van Bever, J. N. R. Kromosoeto, C. J. Withagen-Hermans, A. Nieuwlaat, D. J. J. Halley,
and A. M. W. van den Ouweland, “A clinical and genetic overview of 18 years neurofibromatosis type 1
molecular diagnostics in the Netherlands,”
Clin. Genet.
, vol. 85, no. 4, pp. 318–327, Apr. 2014.
[40] L. M. Messiaen, T. Callens, G. Mortier, D. Beysen, I. Vandenbroucke, N. Van Roy, F. Speleman, and A. D.
Paepe, “Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and
reveals a high frequency of unusual splicing defects,”
Hum. Mutat.
, vol. 15, no. 6, pp. 541–555, 2000.
[41]M. C. Valero, Y. Martín, E. Hernández-Imaz, A. Marina Hernández, G. Meleán, A. M. Valero, F. Javier
Rodríguez-Álvarez, D. Tellería, and C. Hernández-Chico, “A highly sensitive genetic protocol to detect
NF1 mutations,”
J. Mol. Diagn. JMD
, vol. 13, no. 2, pp. 113–122, Mar. 2011.
[42] K. Wimmer, X. Roca, H. Beiglböck, T. Callens, J. Etzler, A. R. Rao, A. R. Krainer, C. Fonatsch, and L.
Messiaen, “Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing
outcome upon 5’ splice-site disruption,”
Hum. Mutat.
, vol. 28, no. 6, pp. 599–612, Jun. 2007.
[43]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. 1120–1126, Sep. 2007.
[44] S. M. Huson, “The Neurofibromatoses: Differential Diagnosis and Rare Subtypes - Springer,” in
Neurofibromatoses in Clinical Practice
, London: Springer-Verlag, 2011, pp. 71–122.
[45] R. E. Ferner, “Neurofibromatosis 1,”
Eur J Hum Genet
, vol. 15, no. 2, pp. 131–8, 2007.
[46]D. G. R. Evans, M. E. Baser, J. McGaughran, S. Sharif, E. Howard, and A. Moran, “Malignant peripheral
nerve sheath tumours in neurofibromatosis 1,”
J. Med. Genet.
, vol. 39, no. 5, pp. 311–314, May 2002.
[47] C. M. Hager, P. R. Cohen, and J. A. Tschen, “Segmental neurofibromatosis: Case reports and review,”
J.
Am. Acad. Dermatol.
, vol. 37, no. 5, Part 2, pp. 864–869, Nov. 1997.
[48] S. H. Lee, M. R. Roh, and S.-C. Kim, “Multiple segmental neurofibromatosis,”
J. Dermatol.
, vol. 39, no. 9,
pp. 810–811, 2012.
[49] J. D. Dang and P. R. Cohen, “Segmental neurofibromatosis and malignancy,”
Skinmed
, vol. 8, no. 3, pp.
156–159, Jun. 2010.
[50]M. J. Descheemaeker, K. Roelandts, T. De Raedt, H. Brems, J. P. Fryns, and E. Legius, “Intelligence in
individuals with a neurofibromatosis type 1 microdeletion,”
Am. J. Med. Genet. A.
, vol. 131, no. 3, pp.
325–326, Dec. 2004.
[51] E. Pasmant, A. Sabbagh, G. Spurlock, I. Laurendeau, E. Grillo, M.-J. Hamel, L. Martin, S. Barbarot, B.
Leheup, D. Rodriguez, D. Lacombe, H. Dollfus, L. Pasquier, B. Isidor, S. Ferkal, J. Soulier, M. Sanson, A.
Dieux-Coeslier, I. Bièche, B. Parfait, M. Vidaud, P. Wolkenstein, M. Upadhyaya, and D. Vidaud, “NF1
microdeletions in neurofibromatosis type 1: from genotype to phenotype,”
Hum. Mutat.
, vol. 31, no. 6,
pp. E1506–E1518, May 2010.
[52] T. De Raedt, H. Brems, P. Wolkenstein, D. Vidaud, S. Pilotti, F. Perrone, V. Mautner, S. Frahm, R. Sciot,
and E. Legius, “Elevated risk for MPNST in NF1 microdeletion patients,”
Am. J. Hum. Genet.
, vol. 72, no.
5, pp. 1288–1292, May 2003.
[53]M. Spiegel, K. Oexle, D. Horn, E. Windt, A. Buske, B. Albrecht, E.-C. Prott, E. Seemanová, J. Seidel, T.
Rosenbaum, D. Jenne, H. Kehrer-Sawatzki, and S. Tinschert, “Childhood overgrowth in patients with
common NF1 microdeletions,”
Eur. J. Hum. Genet. EJHG
, vol. 13, no. 7, pp. 883–888, Jul. 2005.
[54] J. Douglas, D. Cilliers, K. Coleman, K. Tatton-Brown, K. Barker, B. Bernhard, J. Burn, S. Huson, D. Josifova,
D. Lacombe, M. Malik, S. Mansour, E. Reid, V. Cormier-Daire, T. Cole, Childhood Overgrowth