136 related articles for article (PubMed ID: 9150739)
1. 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]
2. 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]
3. Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE).
Valero MC; Velasco E; Moreno F; Hernández-Chico C
Hum Mol Genet; 1994 Apr; 3(4):639-41. PubMed ID: 8069310
[TBL] [Abstract][Full Text] [Related]
4. Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene.
Robinson PN; Böddrich A; Peters H; Tinschert S; Buske A; Kaufmann D; Nürnberg P
Hum Genet; 1995 Jul; 96(1):95-8. PubMed ID: 7607663
[TBL] [Abstract][Full Text] [Related]
5. Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels.
Shen MH; Harper PS; Upadhyaya M
Hum Mol Genet; 1993 Nov; 2(11):1861-4. PubMed ID: 7904209
[TBL] [Abstract][Full Text] [Related]
6. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
Upadhyaya M; Osborn MJ; Maynard J; Kim MR; Tamanoi F; Cooper DN
Hum Genet; 1997 Jan; 99(1):88-92. PubMed ID: 9003501
[TBL] [Abstract][Full Text] [Related]
7. Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.
Estivill X; Lázaro C; Casals T; Ravella A
Hum Genet; 1991 Dec; 88(2):185-8. PubMed ID: 1757093
[TBL] [Abstract][Full Text] [Related]
8. Two novel mutations in exons 19a and 20 and a BsaBI [correction of BsaI] polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene.
Klose A; Robinson N; Gewies A; Kluwe L; Kaufmann D; Buske A; Tinschert S; Peters H
Hum Genet; 1998 Mar; 102(3):367-71. PubMed ID: 9544853
[TBL] [Abstract][Full Text] [Related]
9. Analysis of mutations at the neurofibromatosis 1 (NF1) locus.
Upadhyaya M; Shen M; Cherryson A; Farnham J; Maynard J; Huson SM; Harper PS
Hum Mol Genet; 1992 Dec; 1(9):735-40. PubMed ID: 1302608
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R; Hoffmeyer S; Mischung C; Gille C; Ehlers C; Kücükceylan N; Abdel-Nour M; Gewies A; Peters H; Kaufmann D; Buske A; Tinschert S; Nürnberg P
Am J Hum Genet; 2000 Mar; 66(3):790-818. PubMed ID: 10712197
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.
Messiaen L; Callens T; De Paepe A; Craen M; Mortier G
Hum Genet; 1997 Nov; 101(1):75-80. PubMed ID: 9385374
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1.
Hernández-Imaz E; Campos B; Rodríguez-Álvarez FJ; Abad O; Melean G; Gardenyes J; Martín Y; Hernández-Chico C
Clin Genet; 2013 May; 83(5):462-6. PubMed ID: 22925204
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene.
Hutter P; Antonarakis SE; Delozier-Blanchet CD; Morris MA
Hum Mol Genet; 1994 Apr; 3(4):663-5. PubMed ID: 8069315
[No Abstract] [Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
