355 related articles for article (PubMed ID: 15146469)
1. 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]
2. 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]
3. 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]
4. 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]
5. Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.
Han SS; Cooper DN; Upadhyaya MN
Hum Genet; 2001 Nov; 109(5):487-97. PubMed ID: 11735023
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.
Terzi YK; Oguzkan-Balci S; Anlar B; Aysun S; Guran S; Ayter S
Genet Couns; 2009; 20(2):195-202. PubMed ID: 19650418
[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. 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]
10. 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]
11. Neurofibromatosis: novel and recurrent mutations in Turkish patients.
Terzi YK; Oguzkan S; Anlar B; Aysun S; Ayter S
Pediatr Neurol; 2007 Dec; 37(6):421-5. PubMed ID: 18021924
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
Jeong SY; Park SJ; Kim HJ
J Korean Med Sci; 2006 Feb; 21(1):107-12. PubMed ID: 16479075
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
Pasmant E; Sabbagh A; Spurlock G; Laurendeau I; Grillo E; Hamel MJ; Martin L; Barbarot S; Leheup B; Rodriguez D; Lacombe D; Dollfus H; Pasquier L; Isidor B; Ferkal S; Soulier J; Sanson M; Dieux-Coeslier A; Bièche I; Parfait B; Vidaud M; Wolkenstein P; Upadhyaya M; Vidaud D;
Hum Mutat; 2010 Jun; 31(6):E1506-18. PubMed ID: 20513137
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]