201 related articles for article (PubMed ID: 8837715)
1. 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]
2. 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]
3. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
Messiaen LM; Callens T; Mortier G; Beysen D; Vandenbroucke I; Van Roy N; Speleman F; Paepe AD
Hum Mutat; 2000; 15(6):541-55. PubMed ID: 10862084
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.
Toliat MR; Erdogan F; Gewies A; Fahsold R; Buske A; Tinschert S; Nürnberg P
Electrophoresis; 2000 Feb; 21(3):541-4. PubMed ID: 10726756
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Analysis of mutations of neurofibromatosis type 1 gene and N-ras gene in acute myelogenous leukemia.
Lee YY; Kim WS; Bang YJ; Jung CW; Park S; Yoon WJ; Cho KS; Kim IS; Jung TJ; Choi IY
Stem Cells; 1995 Sep; 13(5):556-63. PubMed ID: 8528106
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. NF1 mutation analysis using a combined heteroduplex/SSCP approach.
Abernathy CR; Rasmussen SA; Stalker HJ; Zori R; Driscoll DJ; Williams CA; Kousseff BG; Wallace MR
Hum Mutat; 1997; 9(6):548-54. PubMed ID: 9195229
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients.
Wimmer K; Eckart M; Stadler PF; Rehder H; Fonatsch C
Hum Mutat; 2000 Jul; 16(1):90-1. PubMed ID: 10874316
[TBL] [Abstract][Full Text] [Related]
13. NF1 gene mutations in Japanese with neurofibromatosis 1 (NF1).
Hatta N; Horiuchi T; Watanabe I; Kobayashi Y; Shirakata Y; Ohtsuka H; Minami T; Ueda K; Kokoroishi T; Fujita S
Biochem Biophys Res Commun; 1995 Jul; 212(2):697-704. PubMed ID: 7542886
[TBL] [Abstract][Full Text] [Related]
14. Analysis of NF1 gene mutations in neurofibromatosis type 1 patients in Japan.
Hatta N; Horiuchi T; Fujita S
Biochem Biophys Res Commun; 1994 Feb; 199(1):207-12. PubMed ID: 8123014
[TBL] [Abstract][Full Text] [Related]
15. Germline mutations in NF1 patients with malignancies.
Wu R; López-Correa C; Rutkowski JL; Baumbach LL; Glover TW; Legius E
Genes Chromosomes Cancer; 1999 Dec; 26(4):376-80. PubMed ID: 10534774
[TBL] [Abstract][Full Text] [Related]
16. Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.
Horn D; Robinson PN; Böddrich A; Buske A; Tinschert S; Nürnberg P
Electrophoresis; 1996 Oct; 17(10):1559-63. PubMed ID: 8957181
[TBL] [Abstract][Full Text] [Related]
17. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.
Andersen BD; Lind B; Philips M; Hansen AB; Ingerslev J; Thorsen S
Thromb Haemost; 1996 Aug; 76(2):143-50. PubMed ID: 8865520
[TBL] [Abstract][Full Text] [Related]
18. Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
Maynard J; Krawczak M; Upadhyaya M
Hum Genet; 1997 May; 99(5):674-6. PubMed ID: 9150739
[TBL] [Abstract][Full Text] [Related]
19. Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.
Han SS; Cooper DN; Upadhyaya MN
Hum Genet; 2001 Nov; 109(5):487-97. PubMed ID: 11735023
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]