261 related articles for article (PubMed ID: 19347965)
1. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques.
Rohlin A; Wernersson J; Engwall Y; Wiklund L; Björk J; Nordling M
Hum Mutat; 2009 Jun; 30(6):1012-20. PubMed ID: 19347965
[TBL] [Abstract][Full Text] [Related]
2. Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test.
Necker J; Kovac M; Attenhofer M; Reichlin B; Heinimann K
J Med Genet; 2011 Aug; 48(8):526-9. PubMed ID: 21653199
[TBL] [Abstract][Full Text] [Related]
3. Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations.
Andrulis IL; Anton-Culver H; Beck J; Bove B; Boyd J; Buys S; Godwin AK; Hopper JL; Li F; Neuhausen SL; Ozcelik H; Peel D; Santella RM; Southey MC; van Orsouw NJ; Venter DJ; Vijg J; Whittemore AS;
Hum Mutat; 2002 Jul; 20(1):65-73. PubMed ID: 12112659
[TBL] [Abstract][Full Text] [Related]
4. Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).
Aretz S; Stienen D; Friedrichs N; Stemmler S; Uhlhaas S; Rahner N; Propping P; Friedl W
Hum Mutat; 2007 Oct; 28(10):985-92. PubMed ID: 17486639
[TBL] [Abstract][Full Text] [Related]
5. A non-radioactive protein truncation test for the sensitive detection of all stop and frameshift mutations.
Kahmann S; Herter P; Kuhnen C; Müller KM; Muhr G; Martin D; Soddemann M; Müller O
Hum Mutat; 2002 Feb; 19(2):165-72. PubMed ID: 11793475
[TBL] [Abstract][Full Text] [Related]
6. Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations.
De la Fuente MK; Alvarez KP; Letelier AJ; Bellolio F; Acuña ML; León FS; Pinto E; Carvallo P; López-Köstner F
Dis Colon Rectum; 2007 Dec; 50(12):2142-8. PubMed ID: 17963004
[TBL] [Abstract][Full Text] [Related]
7. Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC.
Su YN; Lee CN; Hung CC; Chen CA; Cheng WF; Tsao PN; Yu CL; Hsieh FJ
Hum Mutat; 2003 Oct; 22(4):326-36. PubMed ID: 12955718
[TBL] [Abstract][Full Text] [Related]
8. Somatic APC mosaicism: an underestimated cause of polyposis coli.
Hes FJ; Nielsen M; Bik EC; Konvalinka D; Wijnen JT; Bakker E; Vasen HF; Breuning MH; Tops CM
Gut; 2008 Jan; 57(1):71-6. PubMed ID: 17604324
[TBL] [Abstract][Full Text] [Related]
9. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
10. Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
Jennings LJ; Yu M; Zhou L; Rand CM; Berry-Kravis EM; Weese-Mayer DE
Diagn Mol Pathol; 2010 Dec; 19(4):224-31. PubMed ID: 21051998
[TBL] [Abstract][Full Text] [Related]
11. Comparison of SSCP and DHPLC for the detection of LDLR mutations in a New Zealand cohort.
Bunn CF; Lintott CJ; Scott RS; George PM
Hum Mutat; 2002 Mar; 19(3):311. PubMed ID: 11857755
[TBL] [Abstract][Full Text] [Related]
12. A high-throughput nonisotopic protein truncation test.
Gite S; Lim M; Carlson R; Olejnik J; Zehnbauer B; Rothschild K
Nat Biotechnol; 2003 Feb; 21(2):194-7. PubMed ID: 12524552
[TBL] [Abstract][Full Text] [Related]
13. Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
Santer R; Rischewski J; Block G; Kinner M; Wendel U; Schaub J; Schneppenheim R
Hum Mutat; 2000 Aug; 16(2):177. PubMed ID: 10923042
[TBL] [Abstract][Full Text] [Related]
14. Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.
Biggin A; Henke R; Bennetts B; Thorburn DR; Christodoulou J
Mol Genet Metab; 2005 Jan; 84(1):61-74. PubMed ID: 15639196
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. The spectrum of the APC pathogenic mutations in Slovak FAP patients.
Matelova L; Stevurkova V; Zajac V
Neuro Endocrinol Lett; 2008 Oct; 29(5):653-7. PubMed ID: 18987576
[TBL] [Abstract][Full Text] [Related]
17. Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.
Dobson-Stone C; Cox RD; Lonie L; Southam L; Fraser M; Wise C; Bernier F; Hodgson S; Porter DE; Simpson AH; Monaco AP
Eur J Hum Genet; 2000 Jan; 8(1):24-32. PubMed ID: 10713884
[TBL] [Abstract][Full Text] [Related]
18. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.
Emmerson P; Maynard J; Jones S; Butler R; Sampson JR; Cheadle JP
Hum Mutat; 2003 Feb; 21(2):112-5. PubMed ID: 12552557
[TBL] [Abstract][Full Text] [Related]
19. Detection of mosaic RB1 mutations in families with retinoblastoma.
Rushlow D; Piovesan B; Zhang K; Prigoda-Lee NL; Marchong MN; Clark RD; Gallie BL
Hum Mutat; 2009 May; 30(5):842-51. PubMed ID: 19280657
[TBL] [Abstract][Full Text] [Related]
20. Testing for BRCA1 mutations: a cost-effectiveness analysis.
Sevilla C; Moatti JP; Julian-Reynier C; Eisinger F; Stoppa-Lyonnet D; Bressac-de Paillerets B; Sobol H
Eur J Hum Genet; 2002 Oct; 10(10):599-606. PubMed ID: 12357330
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
