-
1
-
-
0004198466
-
-
Vol. xiv. OxfordMalden, MA: Blackwell Science
-
Weatherall DJ, Clegg JB, Gibbons R. The Thalassaemia Syndromes. Vol. xiv. OxfordMalden, MA : Blackwell Science, 2001, 846, 192 247.
-
(2001)
The Thalassaemia Syndromes.
, pp. 192-247
-
-
Weatherall, D.J.1
Clegg, J.B.2
Gibbons, R.3
-
2
-
-
34247132166
-
Thalassemia in Iran: Epidemiology, prevention, and management
-
Abolghasemi H, Amid A, Zeinali S, et al. Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol 2007 29 : 233 8.
-
(2007)
J Pediatr Hematol Oncol
, vol.29
, pp. 233-8
-
-
Abolghasemi, H.1
Amid, A.2
Zeinali, S.3
-
3
-
-
8744272457
-
Iranian national thalassaemia screening programme
-
Samavat A, Modell B. Iranian national thalassaemia screening programme. BMJ 2004 329 : 1134 7.
-
(2004)
BMJ
, vol.329
, pp. 1134-7
-
-
Samavat, A.1
Modell, B.2
-
4
-
-
34248136754
-
Diagnosis of the haemoglobinopathies
-
Trent RJ. Diagnosis of the haemoglobinopathies. Clin Biochem Rev 2006 27 : 27 38.
-
(2006)
Clin Biochem Rev
, vol.27
, pp. 27-38
-
-
Trent, R.J.1
-
5
-
-
0028214609
-
Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification
-
Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL. Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood 1994 83 : 1673 82.
-
(1994)
Blood
, vol.83
, pp. 1673-82
-
-
Craig, J.E.1
Barnetson, R.A.2
Prior, J.3
Raven, J.L.4
Thein, S.L.5
-
6
-
-
20344382303
-
Genetic modifiers of beta-thalassemia
-
Thein SL. Genetic modifiers of beta-thalassemia. Haematologica 2005 90 : 649 60.
-
(2005)
Haematologica
, vol.90
, pp. 649-60
-
-
Thein, S.L.1
-
7
-
-
42049105635
-
Genetic modifiers of the beta-haemoglobinopathies
-
Thein SL. Genetic modifiers of the beta-haemoglobinopathies. Br J Haematol 2008 141 : 357 66.
-
(2008)
Br J Haematol
, vol.141
, pp. 357-66
-
-
Thein, S.L.1
-
8
-
-
0242304166
-
An alternative to FISH: Detecting deletion and duplication carriers within 24 hours
-
White SJ, Sterrenburg E, van Ommen GJ, den Dunnen JT, Breuning MH. An alternative to FISH: detecting deletion and duplication carriers within 24 hours. J Med Genet 2003 40 : e113.
-
(2003)
J Med Genet
, vol.40
-
-
White, S.J.1
Sterrenburg, E.2
Van Ommen, G.J.3
Den Dunnen, J.T.4
Breuning, M.H.5
-
9
-
-
2942579453
-
Molecular diagnosis of haemoglobin disorders
-
Clark BE, Thein SL. Molecular diagnosis of haemoglobin disorders. Clin Lab Haematol 2004 26 : 159 76.
-
(2004)
Clin Lab Haematol
, vol.26
, pp. 159-76
-
-
Clark, B.E.1
Thein, S.L.2
-
10
-
-
0037365343
-
Screening and genetic diagnosis of haemoglobin disorders
-
Old JM. Screening and genetic diagnosis of haemoglobin disorders. Blood Rev 2003 17 : 43 53.
-
(2003)
Blood Rev
, vol.17
, pp. 43-53
-
-
Old, J.M.1
-
11
-
-
28544451004
-
Duplication and deletion analysis by fluorescent real-time PCR-based genotyping
-
Ruiz-Ponte C, Carracedo A, Barros F. Duplication and deletion analysis by fluorescent real-time PCR-based genotyping. Clin Chim Acta 2006 363 : 138 46.
-
(2006)
Clin Chim Acta
, vol.363
, pp. 138-46
-
-
Ruiz-Ponte, C.1
Carracedo, A.2
Barros, F.3
-
12
-
-
33748066684
-
Molecular diagnosis of alpha-thalassemia by combining real-time PCR with SYBR Green1 and dissociation curve analysis
-
Liu J, Yan M, Wang Z, Wang L, Zhou Y, Xiao B. Molecular diagnosis of alpha-thalassemia by combining real-time PCR with SYBR Green1 and dissociation curve analysis. Transl Res 2006 148 : 6 12.
-
(2006)
Transl Res
, vol.148
, pp. 6-12
-
-
Liu, J.1
Yan, M.2
Wang, Z.3
Wang, L.4
Zhou, Y.5
Xiao, B.6
-
13
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002 30 : e57.
-
(2002)
Nucleic Acids Res
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
14
-
-
29144480573
-
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
-
Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet 2005 42 : 922 31.
-
(2005)
J Med Genet
, vol.42
, pp. 922-31
-
-
Harteveld, C.L.1
Voskamp, A.2
Phylipsen, M.3
Akkermans, N.4
Den Dunnen, J.T.5
White, S.J.6
Giordano, P.C.7
-
15
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988 16 : 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
16
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
-
Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001 25 : 402 8.
-
(2001)
Methods
, vol.25
, pp. 402-8
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
17
-
-
17344392308
-
A new mathematical model for relative quantification in real-time RT-PCR
-
Pfaffl MW. A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 2001 29 : e45.
-
(2001)
Nucleic Acids Res
, vol.29
-
-
Pfaffl, M.W.1
-
20
-
-
26444469569
-
Detection of large deletions in the LDL receptor gene with quantitative PCR methods
-
Damgaard D, Nissen PH, Jensen LG, Nielsen GG, Stenderup A, Larsen ML, Faergeman O. Detection of large deletions in the LDL receptor gene with quantitative PCR methods. BMC Med Genet 2005 6 : 15.
-
(2005)
BMC Med Genet
, vol.6
, pp. 15
-
-
Damgaard, D.1
Nissen, P.H.2
Jensen, L.G.3
Nielsen, G.G.4
Stenderup, A.5
Larsen, M.L.6
Faergeman, O.7
-
21
-
-
3042604472
-
Real-time PCR based on SYBR-Green i fluorescence: An alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions
-
Ponchel F, Toomes C, Bransfield K, et al. Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions. BMC Biotechnol 2003 3 : 18.
-
(2003)
BMC Biotechnol
, vol.3
, pp. 18
-
-
Ponchel, F.1
Toomes, C.2
Bransfield, K.3
-
22
-
-
11444249801
-
Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR
-
Raca G, Buiting K, Das S. Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR. Genet Test 2004 8 : 387 94.
-
(2004)
Genet Test
, vol.8
, pp. 387-94
-
-
Raca, G.1
Buiting, K.2
Das, S.3
-
23
-
-
33847757812
-
Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage
-
Shadrina MI, Semenova EV, Slominsky PA, Bagyeva GH, Illarioshkin SN, Ivanova S II., Limborska SA. Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage. BMC Med Genet 2007 8 : 6.
-
(2007)
BMC Med Genet
, vol.8
, pp. 6
-
-
Shadrina, M.I.1
Semenova, E.V.2
Slominsky, P.A.3
Bagyeva, G.H.4
Illarioshkin, S.N.5
Ivanova, II.S.6
Limborska, S.A.7
-
24
-
-
33947531662
-
Autosomal dominant osteopetrosis: Clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation
-
Waguespack SG, Hui SL, Dimeglio LA, Econs MJ. Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. J Clin Endocrinol Metab 2007 92 : 771 8.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 771-8
-
-
Waguespack, S.G.1
Hui, S.L.2
Dimeglio, L.A.3
Econs, M.J.4
-
25
-
-
58149387544
-
Detection and identification of beta-thalassemia 3.5 kb deletion by SYBR Green1 and high resolution melting analysis
-
Prathomtanapong P, Pornprasert S, Phusua A, Suanta S, Saetung R, Sanguansermsri T. Detection and identification of beta-thalassemia 3.5 kb deletion by SYBR Green1 and high resolution melting analysis. Eur J Haematol 2009 82 : 159 160.
-
(2009)
Eur J Haematol
, vol.82
, pp. 159-160
-
-
Prathomtanapong, P.1
Pornprasert, S.2
Phusua, A.3
Suanta, S.4
Saetung, R.5
Sanguansermsri, T.6
-
26
-
-
0346244027
-
Rapid diagnosis of alpha(o)-thalassemia using the relative quantitative PCR and the dissociation curve analysis
-
Sangkitporn SK, Wangkahat K, Sangnoi A, Songkharm B, Charoenporn P, Sangkitporn S. Rapid diagnosis of alpha(o)-thalassemia using the relative quantitative PCR and the dissociation curve analysis. Clin Lab Haematol 2003 25 : 359 65.
-
(2003)
Clin Lab Haematol
, vol.25
, pp. 359-65
-
-
Sangkitporn, S.K.1
Wangkahat, K.2
Sangnoi, A.3
Songkharm, B.4
Charoenporn, P.5
Sangkitporn, S.6
-
27
-
-
24944534978
-
Real-time PCR for mRNA quantitation
-
Wong ML, Medrano JF. Real-time PCR for mRNA quantitation. BioTechniques 2005 39 : 75 85.
-
(2005)
BioTechniques
, vol.39
, pp. 75-85
-
-
Wong, M.L.1
Medrano, J.F.2
|