144 related articles for article (PubMed ID: 8118468)
1. A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene.
Purandare SM; Davidson HR; Lanyon WG; Connor JM
Hum Mutat; 1994; 3(1):76-8. PubMed ID: 8118468
[No Abstract] [Full Text] [Related]
2. New evidence for a mutation hotspot in exon 37 of the NF1 gene.
Böddrich A; Robinson PN; Schülke M; Buske A; Tinschert S; Nürnberg P
Hum Mutat; 1997; 9(4):374-7. PubMed ID: 9101303
[No Abstract] [Full Text] [Related]
3. Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.
Abernathy CR; Colman SD; Kousseff BG; Wallace MR
Hum Mutat; 1994; 3(4):347-52. PubMed ID: 8081387
[TBL] [Abstract][Full Text] [Related]
4. Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.
Hudson J; Wu CL; Tassabehji M; Summers EM; Simon S; Super M; Donnai D; Thakker N
Hum Mutat; 1997; 9(4):366-7. PubMed ID: 9101300
[No Abstract] [Full Text] [Related]
5. Absence of hereditary mutations in exons 5 through 9 of the p53 gene and exon 24 of the neurofibromin gene in families with glioma.
van Meyel DJ; Ramsay DA; Chambers AF; Macdonald DR; Cairncross JG
Ann Neurol; 1994 Jan; 35(1):120-2. PubMed ID: 8285583
[TBL] [Abstract][Full Text] [Related]
6. Reduced neurofibromin content but normal GAP activity in a patient with neurofibromatosis type 1 caused by a five base pair duplication in exon 12b of the NF1 gene.
Böddrich A; Griesser J; Horn D; Kaufmann D; Krone W; Nürnberg P
Biochem Biophys Res Commun; 1995 Sep; 214(3):895-904. PubMed ID: 7575561
[TBL] [Abstract][Full Text] [Related]
7. Identification of an insertion and accompanying deletion in exon 31 of the neurofibromatosis type 1 gene.
Skuse GR
Hum Mutat; 1998; Suppl 1():S50-2. PubMed ID: 9452038
[No Abstract] [Full Text] [Related]
8. Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.
Upadhyaya M; Maynard J; Osborn M; Huson SM; Ponder M; Ponder BA; Harper PS
J Med Genet; 1995 Sep; 32(9):706-10. PubMed ID: 8544190
[TBL] [Abstract][Full Text] [Related]
9. Molecular analysis of neurofibromatosis type 1 mutations.
Weiming X; Yu Q; Lizhi L; Ponder M; Wallace M; Gangfeng X; Ponder B
Hum Mutat; 1992; 1(6):474-7. PubMed ID: 1301957
[TBL] [Abstract][Full Text] [Related]
10. Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.
Perrin G; Morris MA; Antonarakis SE; Boltshauser E; Hutter P
Hum Mutat; 1996; 7(2):172-5. PubMed ID: 8829638
[No Abstract] [Full Text] [Related]
11. Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.
Upadhyaya M; Osborn M; Maynard J; Harper P
Am J Med Genet; 1996 Jul; 67(4):421-3. PubMed ID: 8837715
[TBL] [Abstract][Full Text] [Related]
12. A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient.
Park KC; Choi HO; Park KH; Kim KH; Eun HC
J Hum Genet; 2000; 45(2):84-5. PubMed ID: 10721668
[TBL] [Abstract][Full Text] [Related]
13. A de novo Alu insertion results in neurofibromatosis type 1.
Wallace MR; Andersen LB; Saulino AM; Gregory PE; Glover TW; Collins FS
Nature; 1991 Oct; 353(6347):864-6. PubMed ID: 1719426
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.
Fang LJ; Simard MJ; Vidaud D; Assouline B; Lemieux B; Vidaud M; Chabot B; Thirion JP
J Mol Biol; 2001 Apr; 307(5):1261-70. PubMed ID: 11292340
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma.
Kebudi R; Tuncer S; Upadhyaya M; Peksayar G; Spurlock G; Yazici H
Pediatr Blood Cancer; 2008 Mar; 50(3):713-5. PubMed ID: 17514731
[TBL] [Abstract][Full Text] [Related]
16. Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected].
Origone P; Bellini C; Sambarino D; Banelli B; Morcaldi G; La Rosa C; Stanzial F; Castellan C; Coviello DA; Garrè C; Bonioli E
Hum Mutat; 2003 Aug; 22(2):179-80. PubMed ID: 12872266
[TBL] [Abstract][Full Text] [Related]
17. NF1 gene analysis based on DHPLC.
De Luca A; Buccino A; Gianni D; Mangino M; Giustini S; Richetta A; Divona L; Calvieri S; Mingarelli R; Dallapiccola B
Hum Mutat; 2003 Feb; 21(2):171-2. PubMed ID: 12552569
[TBL] [Abstract][Full Text] [Related]
18. Neurofibromin and NF1 gene analysis in composite pheochromocytoma and tumors associated with von Recklinghausen's disease.
Kimura N; Watanabe T; Fukase M; Wakita A; Noshiro T; Kimura I
Mod Pathol; 2002 Mar; 15(3):183-8. PubMed ID: 11904334
[TBL] [Abstract][Full Text] [Related]
19. Two novel mutations of the NF1 gene in Chinese Han families with type 1 neurofibromatosis.
Cai Y; Fan Z; Liu Q; Li J; Du J; Shen Y; Wang S
J Dermatol Sci; 2005 Aug; 39(2):125-7. PubMed ID: 16005615
[No Abstract] [Full Text] [Related]
20. Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene.
Ainsworth PJ; Rodenhiser DI; Costa MT
Hum Genet; 1993 Mar; 91(2):151-6. PubMed ID: 8385067
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
