349 related articles for article (PubMed ID: 12552569)
1. 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]
2. 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]
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 alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J; Robinson M; Desnick RJ
Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
[TBL] [Abstract][Full Text] [Related]
6. DHPLC screening of cystic fibrosis gene mutations.
Ravnik-Glavac M; Atkinson A; Glavac D; Dean M
Hum Mutat; 2002 Apr; 19(4):374-83. PubMed ID: 11933191
[TBL] [Abstract][Full Text] [Related]
7. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection.
O'Donovan MC; Oefner PJ; Roberts SC; Austin J; Hoogendoorn B; Guy C; Speight G; Upadhyaya M; Sommer SS; McGuffin P
Genomics; 1998 Aug; 52(1):44-9. PubMed ID: 9740670
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Mutational analysis of the NF2 gene in sporadic meningiomas by denaturing high-performance liquid chromatography.
Kim JH; Kim IS; Kwon SY; Jang BC; Suh SI; Shin DH; Jeon CH; Son EI; Kim SP
Int J Mol Med; 2006 Jul; 18(1):27-32. PubMed ID: 16786152
[TBL] [Abstract][Full Text] [Related]
11. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
12. Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene.
Crépin M; Pigny P; Escande F; Bauters CC; Calender A; Lefevre S; Buisine MP; Porchet N; Odou MF
J Mol Endocrinol; 2006 Apr; 36(2):369-76. PubMed ID: 16595707
[TBL] [Abstract][Full Text] [Related]
13. Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.
Colosimo A; Guida V; Rigoli L; Di Bella C; De Luca A; Briuglia S; Stuppia L; Salpietro DC; Dallapiccola B
Hum Mutat; 2003 Jun; 21(6):622-9. PubMed ID: 12754709
[TBL] [Abstract][Full Text] [Related]
14. Evaluation of denaturing high-performance liquid chromatography as a rapid detection method for identification of epidermal growth factor receptor mutations in nonsmall-cell lung cancer.
Cohen V; Agulnik JS; Jarry J; Batist G; Small D; Kreisman H; Tejada NA; Miller WH; Chong G
Cancer; 2006 Dec; 107(12):2858-65. PubMed ID: 17096434
[TBL] [Abstract][Full Text] [Related]
15. Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.
Posteraro P; Pascucci M; Colombi M; Barlati S; Giannetti A; Paradisi M; Mustonen A; Zambruno G; Castiglia D
Biochem Biophys Res Commun; 2005 Dec; 338(3):1391-401. PubMed ID: 16271705
[TBL] [Abstract][Full Text] [Related]
16. Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.
Muscarella LA; Piemontese MR; Barbano R; Fazio A; Guarnieri V; Quattrone A; Zelante L
Biomol Eng; 2007 Jun; 24(2):231-6. PubMed ID: 17145200
[TBL] [Abstract][Full Text] [Related]
17. A high-throughput denaturing high-performance liquid chromatography method for the identification of variant alleles associated with dihydropyrimidine dehydrogenase deficiency.
Ezzeldin H; Okamoto Y; Johnson MR; Diasio RB
Anal Biochem; 2002 Jul; 306(1):63-73. PubMed ID: 12069415
[TBL] [Abstract][Full Text] [Related]
18. Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic Navigator software.
Colley J; Jones S; Dallosso AR; Maynard JH; Humphreys V; Dolwani S; Sampson JR; Cheadle JP
Hum Mutat; 2005 Aug; 26(2):165. PubMed ID: 16010685
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.
Yu B; Sawyer NA; Caramins M; Yuan ZG; Saunderson RB; Pamphlett R; Richmond DR; Jeremy RW; Trent RJ
J Clin Pathol; 2005 May; 58(5):479-85. PubMed ID: 15858117
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
