109 related articles for article (PubMed ID: 8123014)
1. 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]
2. 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]
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. 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]
5. Identification of NF1 mutations in both alleles of a dermal neurofibroma.
Sawada S; Florell S; Purandare SM; Ota M; Stephens K; Viskochil D
Nat Genet; 1996 Sep; 14(1):110-2. PubMed ID: 8782831
[TBL] [Abstract][Full Text] [Related]
6. Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients.
Origone P; De Luca A; Bellini C; Buccino A; Mingarelli R; Costabel S; La Rosa C; Garrè C; Coviello DA; Ajmar F; Dallapiccola B; Bonioli E
Hum Mutat; 2002 Jul; 20(1):74-5. PubMed ID: 12112660
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Identification of two novel frame shift mutations of the NF1 gene in Korean patients with neurofibromatosis type 1.
Park KC; Choi HO; Han WS; Hwang JH; Park KH; Kim KH; Chung JH; Eun HC
J Korean Med Sci; 2000 Oct; 15(5):542-4. PubMed ID: 11068991
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Detection of a neurofibromatosis type I (NF1) homologous sequence by PCR: implications for the diagnosis and screening of genetic diseases.
Gasparini P; Grifa A; Origone P; Coviello D; Antonacci R; Rocchi M
Mol Cell Probes; 1993 Oct; 7(5):415-8. PubMed ID: 8264676
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
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. Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.
Rübben A; Bausch B; Nikkels A
Mol Cancer; 2006 Sep; 5():36. PubMed ID: 16961930
[TBL] [Abstract][Full Text] [Related]
18. Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22.
Luijten M; Wang Y; Smith BT; Westerveld A; Smink LJ; Dunham I; Roe BA; Hulsebos TJ
Eur J Hum Genet; 2000 Mar; 8(3):209-14. PubMed ID: 10780787
[TBL] [Abstract][Full Text] [Related]
19. Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.
Wimmer K; Yao S; Claes K; Kehrer-Sawatzki H; Tinschert S; De Raedt T; Legius E; Callens T; Beiglböck H; Maertens O; Messiaen L
Genes Chromosomes Cancer; 2006 Mar; 45(3):265-76. PubMed ID: 16283621
[TBL] [Abstract][Full Text] [Related]
20. Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no. 229. Online.
Peters H; Lüder A; Harder A; Schuelke M; Tinschert S
Hum Mutat; 1999; 13(3):258. PubMed ID: 10090487
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
