248 related articles for article (PubMed ID: 10076878)
1. 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]
2. Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.
Upadhyaya M; Majounie E; Thompson P; Han S; Consoli C; Krawczak M; Cordeiro I; Cooper DN
Hum Genet; 2003 Jan; 112(1):12-7. PubMed ID: 12483293
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.
Bahuau M; Houdayer C; Assouline B; Blanchet-Bardon C; Le Merrer M; Lyonnet S; Giraud S; Récan D; Lakhdar H; Vidaud M; Vidaud D
Am J Med Genet; 1998 Jan; 75(3):265-72. PubMed ID: 9475595
[TBL] [Abstract][Full Text] [Related]
7. Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1.
Altarescu G; Brooks B; Kaplan Y; Eldar-Geva T; Margalioth EJ; Levy-Lahad E; Renbaum P
Hum Reprod; 2006 Aug; 21(8):2047-51. PubMed ID: 16740526
[TBL] [Abstract][Full Text] [Related]
8. Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.
Bahuau M; Flintoff W; Assouline B; Lyonnet S; Le Merrer M; Prieur M; Guilloud-Bataille M; Feingold N; Munnich A; Vidaud M; Vidaud D
Am J Med Genet; 1996 Dec; 66(3):347-55. PubMed ID: 8985499
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.
Krkljus S; Abernathy CR; Johnson JS; Williams CA; Driscoll DJ; Zori R; Stalker HJ; Rasmussen SA; Collins FS; Kousseff BG; Baumbach L; Wallace MR
Hum Mutat; 1998; 11(5):411. PubMed ID: 10336779
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
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. 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]
17. 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]
18. 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]
19. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.
Lázaro C; Ravella A; Gaona A; Volpini V; Estivill X
N Engl J Med; 1994 Nov; 331(21):1403-7. PubMed ID: 7969279
[TBL] [Abstract][Full Text] [Related]
20. A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.
Wimmer K; Mühlbauer M; Eckart M; Callens T; Rehder H; Birkner T; Leroy JG; Fonatsch C; Messiaen L
Eur J Hum Genet; 2002 May; 10(5):334-8. PubMed ID: 12082509
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
