239 related articles for article (PubMed ID: 18546366)
1. Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
Pros E; Gómez C; Martín T; Fábregas P; Serra E; Lázaro C
Hum Mutat; 2008 Sep; 29(9):E173-93. PubMed ID: 18546366
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. 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]
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. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
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. Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers.
Wiest V; Eisenbarth I; Schmegner C; Krone W; Assum G
Hum Mutat; 2003 Dec; 22(6):423-7. PubMed ID: 14635100
[TBL] [Abstract][Full Text] [Related]
11. Germline and somatic NF1 gene mutations in plexiform neurofibromas.
Upadhyaya M; Spurlock G; Monem B; Thomas N; Friedrich RE; Kluwe L; Mautner V
Hum Mutat; 2008 Aug; 29(8):E103-11. PubMed ID: 18484666
[TBL] [Abstract][Full Text] [Related]
12. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs).
Upadhyaya M; Kluwe L; Spurlock G; Monem B; Majounie E; Mantripragada K; Ruggieri M; Chuzhanova N; Evans DG; Ferner R; Thomas N; Guha A; Mautner V
Hum Mutat; 2008 Jan; 29(1):74-82. PubMed ID: 17960768
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
Tuffery-Giraud S; Chambert S; Demaille J; Claustres M
Hum Mutat; 1999; 14(5):359-68. PubMed ID: 10533061
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
Ko JM; Sohn YB; Jeong SY; Kim HJ; Messiaen LM
Pediatr Neurol; 2013 Jun; 48(6):447-53. PubMed ID: 23668869
[TBL] [Abstract][Full Text] [Related]
17. Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4).
Abed AA; Günther K; Kraus C; Hohenberger W; Ballhausen WG
Hum Mutat; 2001 Nov; 18(5):397-410. PubMed ID: 11668633
[TBL] [Abstract][Full Text] [Related]
18. Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.
Durocher F; Labrie Y; Soucy P; Sinilnikova O; Labuda D; Bessette P; Chiquette J; Laframboise R; Lépine J; Lespérance B; Ouellette G; Pichette R; Plante M; Tavtigian SV; Simard J
BMC Cancer; 2006 Sep; 6():230. PubMed ID: 17010193
[TBL] [Abstract][Full Text] [Related]
19. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
Pasmant E; Sabbagh A; Hanna N; Masliah-Planchon J; Jolly E; Goussard P; Ballerini P; Cartault F; Barbarot S; Landman-Parker J; Soufir N; Parfait B; Vidaud M; Wolkenstein P; Vidaud D; France RN
J Med Genet; 2009 Jul; 46(7):425-30. PubMed ID: 19366998
[TBL] [Abstract][Full Text] [Related]
20. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
Jensen HK
Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
