-
1
-
-
0037230622
-
Inherited disorders of bilirubin metabolism
-
Bosma P. Inherited disorders of bilirubin metabolism. J Hepatol 2003, 38:107-117.
-
(2003)
J Hepatol
, vol.38
, pp. 107-117
-
-
Bosma, P.1
-
2
-
-
0032493441
-
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?
-
Beutler E., Gelbart T., Demina A. Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?. Proc Natl Acad Sci USA 1998, 95:8170-8174.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 8170-8174
-
-
Beutler, E.1
Gelbart, T.2
Demina, A.3
-
3
-
-
0032880196
-
(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome
-
Iolascon A., Faienza M., Centra M., Storelli S., Zelante L., Savoia A. (TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome. Haematologica 1999, 84:106-109.
-
(1999)
Haematologica
, vol.84
, pp. 106-109
-
-
Iolascon, A.1
Faienza, M.2
Centra, M.3
Storelli, S.4
Zelante, L.5
Savoia, A.6
-
4
-
-
43349105595
-
Rare TA repeats in promoter TATA box of the UDP glucuronosyltranferase (UGT1A1) gene in Croatian subjects
-
Nikolac N., Simundic A., Topic E., et al. Rare TA repeats in promoter TATA box of the UDP glucuronosyltranferase (UGT1A1) gene in Croatian subjects. Clin Chem Lab Med 2008, 46:174-178.
-
(2008)
Clin Chem Lab Med
, vol.46
, pp. 174-178
-
-
Nikolac, N.1
Simundic, A.2
Topic, E.3
-
6
-
-
0034085045
-
A Caucasian boy with Gilbert's syndrome heterozygous for the (TA)(8) allele
-
Tsezou A., Tzetis M., Kitsiou S., Kavazarakis E., Galla A., Kanavakis E. A Caucasian boy with Gilbert's syndrome heterozygous for the (TA)(8) allele. Haematologica 2000, 85:319.
-
(2000)
Haematologica
, vol.85
, pp. 319
-
-
Tsezou, A.1
Tzetis, M.2
Kitsiou, S.3
Kavazarakis, E.4
Galla, A.5
Kanavakis, E.6
-
7
-
-
0033841077
-
Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene
-
Raijmakers M., Jansen P., Steegers E., Peters W. Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene. J Hepatol 2000, 33:348-351.
-
(2000)
J Hepatol
, vol.33
, pp. 348-351
-
-
Raijmakers, M.1
Jansen, P.2
Steegers, E.3
Peters, W.4
-
8
-
-
48949119333
-
Pharmacogenetics of Gilbert's syndrome
-
Strassburg C. Pharmacogenetics of Gilbert's syndrome. Pharmacogenomics 2008, 9:703-715.
-
(2008)
Pharmacogenomics
, vol.9
, pp. 703-715
-
-
Strassburg, C.1
-
9
-
-
34249727317
-
Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism
-
Baudhuin L., Highsmith W., Skierka J., Holtegaard L., Moore B., O'Kane D. Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism. Clin Biochem 2007, 40:710-717.
-
(2007)
Clin Biochem
, vol.40
, pp. 710-717
-
-
Baudhuin, L.1
Highsmith, W.2
Skierka, J.3
Holtegaard, L.4
Moore, B.5
O'Kane, D.6
-
10
-
-
55949125072
-
Rapid allelic discrimination by TaqMan PCR for the detection of the Gilbert's syndrome marker UGT1A1*28
-
Ehmer U., Lankisch T., Erichsen T., et al. Rapid allelic discrimination by TaqMan PCR for the detection of the Gilbert's syndrome marker UGT1A1*28. J Mol Diagn 2008, 10:549-552.
-
(2008)
J Mol Diagn
, vol.10
, pp. 549-552
-
-
Ehmer, U.1
Lankisch, T.2
Erichsen, T.3
-
11
-
-
67650744534
-
Diagnostic method validation: high resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene
-
Norambuena P., Copeland J., Krenková P., Stambergová A., Macek M.J. Diagnostic method validation: high resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene. Clin Biochem 2009, 42:1308-1316.
-
(2009)
Clin Biochem
, vol.42
, pp. 1308-1316
-
-
Norambuena, P.1
Copeland, J.2
Krenková, P.3
Stambergová, A.4
Macek, M.J.5
-
12
-
-
34250658870
-
High-resolution DNA melting analysis for simple and efficient molecular diagnostics
-
Reed G., Kent J., Wittwer C. High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 2007, 8:597-608.
-
(2007)
Pharmacogenomics
, vol.8
, pp. 597-608
-
-
Reed, G.1
Kent, J.2
Wittwer, C.3
-
13
-
-
66349090454
-
High-resolution melting analysis (HRMA): more than just sequence variant screening
-
Vossen R., Aten E., Roos A., den Dunnen J. High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat 2009, 30:860-866.
-
(2009)
Hum Mutat
, vol.30
, pp. 860-866
-
-
Vossen, R.1
Aten, E.2
Roos, A.3
den Dunnen, J.4
-
14
-
-
72449179315
-
Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis
-
Minucci A., Concolino P., Giardina B., Zuppi C., Capoluongo E. Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis. Clin Chim Acta 2010, 411:246-249.
-
(2010)
Clin Chim Acta
, vol.411
, pp. 246-249
-
-
Minucci, A.1
Concolino, P.2
Giardina, B.3
Zuppi, C.4
Capoluongo, E.5
-
15
-
-
66349115872
-
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner
-
van der Stoep N., van Paridon C., Janssens T., et al. Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat 2009, 30:899-909.
-
(2009)
Hum Mutat
, vol.30
, pp. 899-909
-
-
van der Stoep, N.1
van Paridon, C.2
Janssens, T.3
|