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NF1 microdeletion

Tuesday 25 January 2011


- Detection and characterization of NF1 microdeletions by custom high resolution array CGH. Pasmant E, Sabbagh A, Masliah-Planchon J, Haddad V, Hamel MJ, Laurendeau I, Soulier J, Parfait B, Wolkenstein P, Bièche I, Vidaud M, Vidaud D. J Mol Diagn. 2009 Nov;11(6):524-9. PMID: 19767589 [Free]

- Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region. Kehrer-Sawatzki H, Schmid E, Fünsterer C, Kluwe L, Mautner VF. Am J Med Genet A. 2008 Mar 15;146A(6):691-9. PMID: 18265407

- Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. Bartsch O, Vlcková Z, Erdogan F, Ullmann R, Novotná D, Spiegel M, Beyer V, Haaf T, Zechner U, Seemanová E. Cytogenet Genome Res. 2007;119(1-2):158-64. PMID: 18160797