186 related articles for article (PubMed ID: 12073021)
1. RT-PCR splicing analysis of the NF1 open reading frame.
Thomson SA; Wallace MR
Hum Genet; 2002 May; 110(5):495-502. PubMed ID: 12073021
[TBL] [Abstract][Full Text] [Related]
2. NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.
Pros E; Larriba S; López E; Ravella A; Gili ML; Kruyer H; Valls J; Serra E; Lázaro C
Hum Mutat; 2006 Nov; 27(11):1104-14. PubMed ID: 16937374
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
Pros E; Fernández-Rodríguez J; Canet B; Benito L; Sánchez A; Benavides A; Ramos FJ; López-Ariztegui MA; Capellá G; Blanco I; Serra E; Lázaro C
Hum Mutat; 2009 Mar; 30(3):454-62. PubMed ID: 19241459
[TBL] [Abstract][Full Text] [Related]
5. Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
Brinckmann A; Mischung C; Bässmann I; Kühnisch J; Schuelke M; Tinschert S; Nürnberg P
Electrophoresis; 2007 Dec; 28(23):4295-301. PubMed ID: 18041031
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.
Zatkova A; Messiaen L; Vandenbroucke I; Wieser R; Fonatsch C; Krainer AR; Wimmer K
Hum Mutat; 2004 Dec; 24(6):491-501. PubMed ID: 15523642
[TBL] [Abstract][Full Text] [Related]
9. Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.
Wimmer K; Roca X; Beiglböck H; Callens T; Etzler J; Rao AR; Krainer AR; Fonatsch C; Messiaen L
Hum Mutat; 2007 Jun; 28(6):599-612. PubMed ID: 17311297
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment.
Kaufmann D; Müller R; Kenner O; Leistner W; Hein C; Vogel W; Bartelt B
Biochem Biophys Res Commun; 2002 Jun; 294(2):496-503. PubMed ID: 12051738
[TBL] [Abstract][Full Text] [Related]
12. The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.
Pepe CM; Saraco NI; Baquedano MS; Guercio G; Vaiani E; Marino R; Pandey AV; Flück CE; Rivarola MA; Belgorosky A
Clin Endocrinol (Oxf); 2007 Nov; 67(5):698-705. PubMed ID: 17608756
[TBL] [Abstract][Full Text] [Related]
13. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
Aretz S; Uhlhaas S; Sun Y; Pagenstecher C; Mangold E; Caspari R; Möslein G; Schulmann K; Propping P; Friedl W
Hum Mutat; 2004 Nov; 24(5):370-80. PubMed ID: 15459959
[TBL] [Abstract][Full Text] [Related]
14. Functional analysis of splicing mutations in exon 7 of NF1 gene.
Bottillo I; De Luca A; Schirinzi A; Guida V; Torrente I; Calvieri S; Gervasini C; Larizza L; Pizzuti A; Dallapiccola B
BMC Med Genet; 2007 Feb; 8():4. PubMed ID: 17295913
[TBL] [Abstract][Full Text] [Related]
15. Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation.
Ars E; Kruyer H; Gaona A; Serra E; Lázaro C; Estivill X
Prenat Diagn; 1999 Aug; 19(8):739-42. PubMed ID: 10451518
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Tissue specific expression of alternative splice forms of human cyclic nucleotide gated channel subunit CNGA3.
Cassar SC; Chen J; Zhang D; Gopalakrishnan M
Mol Vis; 2004 Oct; 10():808-13. PubMed ID: 15534583
[TBL] [Abstract][Full Text] [Related]
18. Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers.
Hong DH; Li T
Invest Ophthalmol Vis Sci; 2002 Nov; 43(11):3373-82. PubMed ID: 12407146
[TBL] [Abstract][Full Text] [Related]
19. Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2.
Kaufmann D; Leistner W; Kruse P; Kenner O; Hoffmeyer S; Hein C; Vogel W; Messiaen L; Bartelt B
Cancer Res; 2002 Mar; 62(5):1503-9. PubMed ID: 11888927
[TBL] [Abstract][Full Text] [Related]
20. [Exon 5 alternative splicing of the cytochrome P450 aromatase could be a regulatory mechanism for estrogen production in humans].
Pepe CM; Saraco NI; Baquedano MS; Guercio G; Vaiani E; Berensztein E; Rivarola MA; Belgorosky A
Medicina (B Aires); 2007; 67(4):369-73. PubMed ID: 17891933
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
