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5. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. Pasmant E; Sabbagh A; Hanna N; Masliah-Planchon J; Jolly E; Goussard P; Ballerini P; Cartault F; Barbarot S; Landman-Parker J; Soufir N; Parfait B; Vidaud M; Wolkenstein P; Vidaud D; France RN J Med Genet; 2009 Jul; 46(7):425-30. PubMed ID: 19366998 [TBL] [Abstract][Full Text] [Related]
6. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption. Wimmer K; Roca X; Beiglböck H; Callens T; Etzler J; Rao AR; Krainer AR; Fonatsch C; Messiaen L Hum Mutat; 2007 Jun; 28(6):599-612. PubMed ID: 17311297 [TBL] [Abstract][Full Text] [Related]
7. Two independent mutations in a family with neurofibromatosis type 1 (NF1). Klose A; Peters H; Hoffmeyer S; Buske A; Lüder A; Hess D; Lehmann R; Nürnberg P; Tinschert S Am J Med Genet; 1999 Mar; 83(1):6-12. PubMed ID: 10076878 [TBL] [Abstract][Full Text] [Related]
9. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. De Luca A; Schirinzi A; Buccino A; Bottillo I; Sinibaldi L; Torrente I; Ciavarella A; Dottorini T; Porciello R; Giustini S; Calvieri S; Dallapiccola B Hum Mutat; 2004 Jun; 23(6):629. PubMed ID: 15146469 [TBL] [Abstract][Full Text] [Related]
10. Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers. Wiest V; Eisenbarth I; Schmegner C; Krone W; Assum G Hum Mutat; 2003 Dec; 22(6):423-7. PubMed ID: 14635100 [TBL] [Abstract][Full Text] [Related]
11. Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1 (NF1): diagnostic findings on magnetic resonance images and mutation analysis of the NF1 gene. Friedrich RE; Kluwe L; Fünsterer C; Mautner VF Anticancer Res; 2005; 25(3A):1699-702. PubMed ID: 16033085 [TBL] [Abstract][Full Text] [Related]
12. Molecular profiles of neurofibromatosis type 1-associated plexiform neurofibromas: identification of a gene expression signature of poor prognosis. Lévy P; Bièche I; Leroy K; Parfait B; Wechsler J; Laurendeau I; Wolkenstein P; Vidaud M; Vidaud D Clin Cancer Res; 2004 Jun; 10(11):3763-71. PubMed ID: 15173083 [TBL] [Abstract][Full Text] [Related]
13. Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features. Faravelli F; Upadhyaya M; Osborn M; Huson SM; Hayward R; Winter R J Med Genet; 1999 Dec; 36(12):893-6. PubMed ID: 10593996 [TBL] [Abstract][Full Text] [Related]
14. Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation. Bacci C; Sestini R; Ammannati F; Bianchini E; Palladino T; Carella M; Melchionda S; Zelante L; Papi L Clin Genet; 2010 Mar; 77(3):293-7. PubMed ID: 19863548 [TBL] [Abstract][Full Text] [Related]
15. Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome. Bahuau M; Houdayer C; Assouline B; Blanchet-Bardon C; Le Merrer M; Lyonnet S; Giraud S; Récan D; Lakhdar H; Vidaud M; Vidaud D Am J Med Genet; 1998 Jan; 75(3):265-72. PubMed ID: 9475595 [TBL] [Abstract][Full Text] [Related]
16. [Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene]. Sabol Z; Kipke-Sabol L Lijec Vjesn; 2005; 127(11-12):303-11. PubMed ID: 16583938 [TBL] [Abstract][Full Text] [Related]
17. Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1). Szudek J; Joe H; Friedman JM Genet Epidemiol; 2002 Aug; 23(2):150-64. PubMed ID: 12214308 [TBL] [Abstract][Full Text] [Related]
18. [From gene to disease; neurofibromatosis type 1]. de Goede-Bolder A; Cnossen MH; Dooijes D; van den Ouweland AM; Niermeijer MF Ned Tijdschr Geneeskd; 2001 Sep; 145(36):1736-8. PubMed ID: 11572174 [TBL] [Abstract][Full Text] [Related]
19. Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. de Raedt T; Cools J; Debiec-Rychter M; Brems H; Mentens N; Sciot R; Himpens J; de Wever I; Schöffski P; Marynen P; Legius E Gastroenterology; 2006 Dec; 131(6):1907-12. PubMed ID: 17087943 [TBL] [Abstract][Full Text] [Related]
20. NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing. Pros E; Larriba S; López E; Ravella A; Gili ML; Kruyer H; Valls J; Serra E; Lázaro C Hum Mutat; 2006 Nov; 27(11):1104-14. PubMed ID: 16937374 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]