271 related articles for article (PubMed ID: 11288117)
21. Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene.
Roberts PS; Jozwiak S; Kwiatkowski DJ; Dabora SL
J Biochem Biophys Methods; 2001 Jan; 47(1-2):33-7. PubMed ID: 11179759
[TBL] [Abstract][Full Text] [Related]
22. Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Pfendner EG; Nakano A; Pulkkinen L; Christiano AM; Uitto J
Prenat Diagn; 2003 Jun; 23(6):447-56. PubMed ID: 12813757
[TBL] [Abstract][Full Text] [Related]
23. [Accurate and rapid prenatal diagnosis of beta-thalassemia by a multiplex primer extension and denaturing high-performance liquid chromatography technique].
Hua L; Zhu H; Li XR; Li J; Mo QH; Liao C; Hou YX; Zhong M; Xu XM
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Dec; 21(6):600-3. PubMed ID: 15583991
[TBL] [Abstract][Full Text] [Related]
24. [Angiomyolipoma--its role in prenatal diagnosis of tuberous sclerosis].
Vrtĕl R; Vodicka R; Santavá A; Santavý J; Krejciríková E
Cas Lek Cesk; 2004; 143(3):195-7. PubMed ID: 15134041
[TBL] [Abstract][Full Text] [Related]
25. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
Beauchamp RL; Banwell A; McNamara P; Jacobsen M; Higgins E; Northrup H; Short P; Sims K; Ozelius L; Ramesh V
Hum Mutat; 1998; 12(6):408-16. PubMed ID: 9829910
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis.
Chen WJ; Wu ZY; Lin MT; Su JF; Lin Y; Murong SX; Wang N
Arch Neurol; 2007 Feb; 64(2):225-31. PubMed ID: 17296838
[TBL] [Abstract][Full Text] [Related]
29. Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein.
Jobert S; Bragado-Nilsson E; Samolyk D; Pedespan JM; Marchal C; Reichert S; Mallet J; Pitiot G
Eur J Hum Genet; 1997; 5(5):280-7. PubMed ID: 9412784
[TBL] [Abstract][Full Text] [Related]
30. Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
Yamashita Y; Ono J; Okada S; Wataya-Kaneda M; Yoshikawa K; Nishizawa M; Hirayama Y; Kobayashi E; Seyama K; Hino O
Am J Med Genet; 2000 Jan; 90(2):123-6. PubMed ID: 10607950
[TBL] [Abstract][Full Text] [Related]
31. Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations.
Bénit P; Kara-Mostefa A; Hadj-Rabia S; Munnich A; Bonnefont JP
Hum Mutat; 1999; 14(5):428-32. PubMed ID: 10533069
[TBL] [Abstract][Full Text] [Related]
32. Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.
Sato T; Seyama K; Fujii H; Maruyama H; Setoguchi Y; Iwakami S; Fukuchi Y; Hino O
J Hum Genet; 2002; 47(1):20-8. PubMed ID: 11829138
[TBL] [Abstract][Full Text] [Related]
33. Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.
Feng JH; Yamamoto T; Nanba E; Ninomiya H; Oka A; Ohno K
Hum Mutat; 2004 Apr; 23(4):397. PubMed ID: 15024740
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Rapid prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography system.
Shaw SW; Cheng PJ; Chang SD; Lin YT; Hung CC; Chen CP; Su YN
Acta Obstet Gynecol Scand; 2008; 87(9):960-8. PubMed ID: 18720039
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL; Jozwiak S; Franz DN; Roberts PS; Nieto A; Chung J; Choy YS; Reeve MP; Thiele E; Egelhoff JC; Kasprzyk-Obara J; Domanska-Pakiela D; Kwiatkowski DJ
Am J Hum Genet; 2001 Jan; 68(1):64-80. PubMed ID: 11112665
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.
Colosimo A; Guida V; De Luca A; Cappabianca MP; Bianco I; Palka G; Dallapiccola B
Hum Mutat; 2002 Mar; 19(3):287-95. PubMed ID: 11857746
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]