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Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel AssociationBREMS, Hilde; PARK, Caroline; SLOAN, Jennifer L et al.Cancer research (Chicago, Ill.). 2009, Vol 69, Num 18, pp 7393-7401, issn 0008-5472, 9 p.Article

Recombination hotspot in NF1 microdeletion patientsLOPEZ-CORREA, Catalina; DORSCHNER, Michael; FRYNS, Jean-Pierre et al.Human molecular genetics (Print). 2001, Vol 10, Num 13, pp 1387-1392, issn 0964-6906Article

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasTHOMAS, Laura; SPURLOCK, Gill; UPADHYAYA, Meena et al.European journal of human genetics. 2012, Vol 20, Num 4, pp 411-419, issn 1018-4813, 9 p.Article

Clinical and Mutational Spectrum of Neurofibromatosis Type 1―like SyndromeMESSIAEN, Ludwine; SUXIA YAO; BOBELE, Gary et al.JAMA, the journal of the American Medical Association. 2009, Vol 302, Num 19, pp 2111-2118, issn 0098-7484, 8 p.Article

Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletionsSTEINMANN, Katharina; KLUWE, Lan; COOPER, David N et al.European journal of human genetics. 2008, Vol 16, Num 5, pp 572-580, issn 1018-4813, 9 p.Article

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotypeBREMS, Hilde; CHMARA, Magdalena; COOLS, Jan et al.Nature genetics. 2007, Vol 39, Num 9, pp 1120-1126, issn 1061-4036, 7 p.Article

Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndromeBABOVIC-VUKSANOVIC, D; MESSIAEN, Ludwine; CLAES, Kathleen et al.European journal of human genetics. 2012, Vol 20, Num 6, pp 618-625, issn 1018-4813, 8 p.Article

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1MAERTENS, Ophélia; DE SCHEPPER, Sofie; VANDESOMPELE, Jo et al.American journal of human genetics. 2007, Vol 81, Num 2, pp 243-251, issn 0002-9297, 9 p.Article

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletionDE RAEDT, Thomas; STEPHENS, Matthew; VIDAUD, Dominique et al.Nature genetics. 2006, Vol 38, Num 12, pp 1419-1423, issn 1061-4036, 5 p.Article