183 related articles for article (PubMed ID: 11142762)
1. Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.
Erlandson A; Stibler H; Kristiansson B; Wahlström J; Martinsson T
Genet Test; 2000; 4(3):293-7. PubMed ID: 11142762
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Denaturing high-performance liquid chromatography quickly and reliably detects cardiac ion channel mutations in long QT syndrome.
Ning L; Moss A; Zareba W; Robinson J; Rosero S; Ryan D; Qi M
Genet Test; 2003; 7(3):249-53. PubMed ID: 14642002
[TBL] [Abstract][Full Text] [Related]
4. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Matthijs G; Schollen E; Van Schaftingen E; Cassiman JJ; Jaeken J
Am J Hum Genet; 1998 Mar; 62(3):542-50. PubMed ID: 9497260
[TBL] [Abstract][Full Text] [Related]
5. Evaluation of DHPLC in the analysis of hemophilia A.
Oldenburg J; Ivaskevicius V; Rost S; Fregin A; White K; Holinski-Feder E; Müller CR; Weber BH
J Biochem Biophys Methods; 2001 Jan; 47(1-2):39-51. PubMed ID: 11179760
[TBL] [Abstract][Full Text] [Related]
6. Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome.
Hatch SL; Trewick AL; Payne SJ
Ann Clin Biochem; 2007 Mar; 44(Pt 2):159-63. PubMed ID: 17362581
[TBL] [Abstract][Full Text] [Related]
7. Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I.
Mizugishi K; Yamanaka K; Kuwajima K; Yuasa I; Shigemoto K; Kondo I
Brain Dev; 1999 Jun; 21(4):223-8. PubMed ID: 10392743
[TBL] [Abstract][Full Text] [Related]
8. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
Schollen E; Martens K; Geuzens E; Matthijs G
Eur J Hum Genet; 2002 Oct; 10(10):643-8. PubMed ID: 12357336
[TBL] [Abstract][Full Text] [Related]
9. Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.
Kondo I; Mizugishi K; Yoneda Y; Hashimoto T; Kuwajima K; Yuasa I; Shigemoto K; Kuroda Y
Clin Genet; 1999 Jan; 55(1):50-4. PubMed ID: 10066032
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.
Bjursell C; Erlandson A; Nordling M; Nilsson S; Wahlström J; Stibler H; Kristiansson B; Martinsson T
Hum Mutat; 2000 Nov; 16(5):395-400. PubMed ID: 11058896
[TBL] [Abstract][Full Text] [Related]
13. Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.
Choy YS; Dabora SL; Hall F; Ramesh V; Niida Y; Franz D; Kasprzyk-Obara J; Reeve MP; Kwiatkowski DJ
Ann Hum Genet; 1999 Sep; 63(Pt 5):383-91. PubMed ID: 10735580
[TBL] [Abstract][Full Text] [Related]
14. [Influence of DNA polymerases on mutation screening of denaturing high-performance liquid chromatography].
Liu MR; Pan KF; Wang Y; Lu YY
Ai Zheng; 2002 Oct; 21(10):1160-3. PubMed ID: 12508666
[TBL] [Abstract][Full Text] [Related]
15. Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations.
Liu W; Smith DI; Rechtzigel KJ; Thibodeau SN; James CD
Nucleic Acids Res; 1998 Mar; 26(6):1396-400. PubMed ID: 9490783
[TBL] [Abstract][Full Text] [Related]
16. Tumour necrosis factor receptor superfamily member 6 gene mutation detection by denaturing high-performance liquid chromatography.
Etokebe GE; Abrahamsen TG; Bogen B; Spurkland A
Scand J Immunol; 2004 May; 59(5):496-503. PubMed ID: 15140060
[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. Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.
Ono H; Sakura N; Yamashita K; Yuasa I; Ohno K
Brain Dev; 2003 Oct; 25(7):525-8. PubMed ID: 13129599
[TBL] [Abstract][Full Text] [Related]
19. The Analysis of Variants in the General Population Reveals That
Citro V; Cimmaruta C; Monticelli M; Riccio G; Hay Mele B; Cubellis MV; Andreotti G
Int J Mol Sci; 2018 Jul; 19(8):. PubMed ID: 30061496
[TBL] [Abstract][Full Text] [Related]
20. Enhanced detection of TP53 mutations using a GC-clamp in denaturing high performance liquid chromatography.
Greiner TC
Diagn Mol Pathol; 2007 Mar; 16(1):32-7. PubMed ID: 17471156
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
