1[1]Yagle MK, Parruti G, Xu W, et al. Genetic and physical map of the von Recklinghausen neurofibromatosis ( NF-1 ) region on chromosome 17. Proc Natl Acad Sci U S A, 1990, 87:7255 -7259
2[2]Skuse GR, Cappione AJ. RNA processing and clinical variability in neurofibromatosis type 1 (NF-1). Hum Mol Genet, 1997, 6:1707 - 1712
3[3]Xu GF, OConnell P, Viskochil D, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell, 1990, 62:599 - 608
4[4]Fahsold R, Hoffmeyer S, Mischung C, et al. Minor lesion mutational spectrum of the entire NF-1 gene does not explain its high mutability but points to a functional domain upstream of the GAP -related domain. Am J Hum Genet, 2000, 66:790 - 818
5[5]Horan MP, Cooper DN, Upadhyaya M. Hypermethylation of the neurofibromatosis type 1 ( NF-1 ) gene promoter is not a common event in the inactivation of the NF-1 gene in NF-i - specific tumours. Hum Genet, 2000, 107: 33 -39
6[6]Carey JC, Viskochil DH. Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders. Am J Med Genet, 1999,89:7 -13
7[7]Lopez - Correa C, Dorschner M, Brems H, et al. Recombination hotspot in NF-1 microdeletion patients. Hum Mol Genet, 2001,10:1387 - 1392
8[8]Lopez - Correa C, Dorschner M, Brems H, et al. Recombination hotspot in NF-1 microdeletion patients. Hum Mol Genet, 2001,10:1387 - 1392
9[9]Rasmussen SA, Ho VT, Colman SD, et al. A multiplex - PCR test for EV12A and EV12B polymorphisms within the human NF-1 gene. Mamm Genome, 1996, 7: 233 - 234
10[10]Habib AA, Gulcher JR, Hognason T, et al. The OMgp gene, a second growth suppressor within the NF-1 gene. Oncogene, 1998,16:1525-1531
2Battistella PA,Perilongo G,Carollo C.Neurofibromatosis type 1 and type Ⅰ Chiari malformation:an unusual association.Childs Nerv Syst,1996,12(6):336-338.
3Dooley J,Vaughan D,Riding M,et al.The association of Chiari type Ⅰ malformation and neurofibromatosis type 1.Clin Pediatr (Phila),1993,32(3):189-190.
4Tubbs RS,Rutledge SL,Kosentka A,et al.Chiari Ⅰ malformation and neurofibromatosis type 1.Pediatr Neurol,2004,30 (4):278-280.
5Tubbs RS,Oakes WJ.Dural ectasia in neurofibromatosis.Pediatr Neurosurg,2002,37(6):331-332.
7National Institutes of Health Consensus Development Conference Statement:neurofibromatosis.Bethesda,Md.,USA,July 13-15,1987.Neurofibromatosis,1988,1(3):172-178.
8Meadows J,Kraut M,Guarnieri M,et al.Asymptomatic Chiari Type Ⅰ malformations identified on magnetic resonance imaging.J Neurosurg,2000,92(6):920-926.
