-
2
-
-
0036676043
-
Prevalence survey and molecular characterization of alpha and beta thalassemia in Liuzhou city of Guangxi
-
R Cai L Li X Liang, et al. 2002 Prevalence survey and molecular characterization of alpha and beta thalassemia in Liuzhou city of Guangxi Zhong Hua Liu Xing Bing Xue Za Zhi 23 4 281 285
-
(2002)
Zhong Hua Liu Xing Bing Xue Za Zhi
, vol.23
, Issue.4
, pp. 281-285
-
-
Cai, R.1
Li, L.2
Liang, X.3
-
3
-
-
2442556148
-
The prevalence and spectrum of α and β thalassaemia in Guangdong Province: Implications for the future health burden and population screening
-
DOI 10.1136/jcp.2003.014456
-
XM Xu YQ Zhou GX Luo, et al. 2004 The prevalence and spectrum of alpha and beta thalassemia in Guangdong Province: implications for the future health burden and population screening J Clin Pathol 57 517 519 15113860 10.1136/jcp.2003.014456 1:STN:280:DC%2BD2c3jvVOmsw%3D%3D (Pubitemid 38621798)
-
(2004)
Journal of Clinical Pathology
, vol.57
, Issue.5
, pp. 517-522
-
-
Xu, X.M.1
Zhou, Y.Q.2
Luo, G.X.3
Liao, C.4
Zhou, M.5
Chen, P.Y.6
Lu, J.P.7
Jia, S.Q.8
Xiao, G.F.9
Shen, X.10
Li, J.11
Chen, H.P.12
Xia, Y.Y.13
Wen, Y.X.14
Mo, Q.H.15
Li, W.D.16
Li, Y.Y.17
Zhuo, L.W.18
Wang, Z.Q.19
Chen, Y.J.20
Qin, C.H.21
Zhong, M.22
more..
-
4
-
-
0002029882
-
Molecular genetics of the human globin genes
-
M.H. Steinberg B.G. Forget D.R. Higgs R.L. Nagel (eds). Cambridge University Press UK
-
Forget RG. Molecular genetics of the human globin genes. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Disorders of hemoglobin: genetics, pathophysiology and clinical management. UK: Cambridge University Press; 2001. p. 117-30.
-
(2001)
Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management
, pp. 117-130
-
-
Forget, R.G.1
-
5
-
-
0021807743
-
Homozygous α-thalassaemia: Clinical presentation, diagnosis and management. A review of 46 cases
-
ST Liang VCW Wong WWK So HK Ma V Chan D Todd 1985 Homozygous α-thalassemia: clinical presentation, diagnosis and management. A review of 46 cases Br J Obstet Gynaecol 92 680 684 4016025 10.1111/j.1471-0528.1985. tb01447.x 1:STN:280:DyaL2M3lt1Kjuw%3D%3D (Pubitemid 15048746)
-
(1985)
British Journal of Obstetrics and Gynaecology
, vol.92
, Issue.7
, pp. 680-684
-
-
Liang, S.T.1
Wong, V.C.W.2
So, W.W.K.3
-
6
-
-
70349936559
-
The incidence rates and genotypes in children with α-thalassemia in Guangzhou region
-
YJ Huang XB Ou YP Yu, et al. 2005 The incidence rates and genotypes in children with α-thalassemia in Guangzhou region Chin Pedi Hemat. 10 205 208
-
(2005)
Chin Pedi Hemat.
, vol.10
, pp. 205-208
-
-
Huang, Y.J.1
Ou, X.B.2
Yu, Y.P.3
-
7
-
-
0141545055
-
The research on the mutation genotypes of α-thalassemia in Southern China
-
S Duan HY Li Z Chen, et al. 2003 The research on the mutation genotypes of α-thalassemia in Southern China Zhong-Guo-Shi-Yan-Xue-Ye-Xue-Za-Zhi 11 54 60
-
(2003)
Zhong-Guo-Shi-Yan-Xue-Ye-Xue-Za-Zhi
, vol.11
, pp. 54-60
-
-
Duan, S.1
Li, H.Y.2
Chen, Z.3
-
8
-
-
0030090112
-
Preimplantation diagnosis of α-thalassemia by blastomere aspiration and polymerase chain reaction:preliminary experience
-
8857251 1:CAS:528:DyaK28XisFOntrc%3D
-
MY Chang YK Soong ML Wong 1996 Preimplantation diagnosis of α-thalassemia by blastomere aspiration and polymerase chain reaction:preliminary experience J Formos Med Assoc 95 203 208 8857251 1:CAS:528:DyaK28XisFOntrc%3D
-
(1996)
J Formos Med Assoc
, vol.95
, pp. 203-208
-
-
Chang, M.Y.1
Soong, Y.K.2
Wong, M.L.3
-
9
-
-
0034805203
-
Preimplantation genetic diagnostic protocols for α- and β-thalassaemias using multiplex fluorescent PCR
-
DOI 10.1002/pd.170
-
W Piyamongkol JC Harper J Delhanty, et al. 2001 Preimplantation genetic diangositic protocols for α- and β-thalassemias using multiplex fluorescent PCR Prenat Diagn 21 753 759 11559912 10.1002/pd.170 1:CAS:528:DC%2BD3MXotVWit78%3D (Pubitemid 32929129)
-
(2001)
Prenatal Diagnosis
, vol.21
, Issue.9
, pp. 753-759
-
-
Piyamongkol, W.1
Harper, J.C.2
Delhanty, J.D.A.3
Wells, D.4
-
10
-
-
33751333200
-
Successful preimplantation genetic diagnosis for alpha- and beta-thalassemia in China
-
DOI 10.1002/pd.1549
-
J Deng WL Peng J Li, et al. 2006 Successful preimplantation genetic diagnosis for alpha- and beta-thalassemia in China Prenat Diagn 26 1021 1028 16986175 10.1002/pd.1422 (Pubitemid 44804685)
-
(2006)
Prenatal Diagnosis
, vol.26
, Issue.11
, pp. 1021-1028
-
-
Deng, J.1
Peng, W.-L.2
Li, J.3
Fang, C.4
Liang, X.-Y.5
Zeng, Y.-H.6
Sun, H.-Y.7
Zhou, C.-Q.8
Zhuang, G.-L.9
-
11
-
-
70349925375
-
Preimplantation genetic diagnosis for α-thalassemia in China
-
19813097 10.1007/s10815-009-9336-4
-
YW Xu YH Zeng J Deng, et al. 2009 Preimplantation genetic diagnosis for α-thalassemia in China J Assist Reprod Genet 26 399 403 19813097 10.1007/s10815-009-9336-4
-
(2009)
J Assist Reprod Genet
, vol.26
, pp. 399-403
-
-
Xu, Y.W.1
Zeng, Y.H.2
Deng, J.3
-
13
-
-
0033378762
-
Preimplantation genetic diagnosis in 10 couples at risk for transmitting β-thalassaemia major: Clinical experience including the initiation of six singleton pregnancies
-
DOI 10.1002/(SICI)1097-0223(199912)19:13<1217::AID-PD723>3.0.CO;2-2
-
E Kanavakis C Vrettou G Palmer, et al. 1999 Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassemia major: Clinical experience including the initiation of six singleton pregnancies Prenat Diagn 19 1217 1222 10660958 10.1002/(SICI)1097-0223(199912)19:13<1217::AID- PD723>3.0.CO;2-2 1:STN:280:DC%2BD3c7is1Oqtw%3D%3D (Pubitemid 30038020)
-
(1999)
Prenatal Diagnosis
, vol.19
, Issue.13
, pp. 1217-1222
-
-
Kanavakis, E.1
Vrettou, C.2
Palmer, G.3
Tzetis, M.4
Mastrominas, M.5
Traeger-Synodinos, J.6
-
14
-
-
0035064640
-
Preimplantation genetic diagnosis for sickle-cell anemia and for β-thalassemia
-
DOI 10.1002/1097-0223(200103)21:3<214::AID-PD51>3.0.CO;2-4
-
M De Rycke H Van de Velde K Sermon, et al. 2001 Preimplantation genetic diagnosis for sickle cell anemia and for beta-thalassemia Prenat Diagn 21 214 222 11260611 10.1002/1097-0223(200103)21:3<214::AID-PD51>3.0.CO;2-4 (Pubitemid 32267839)
-
(2001)
Prenatal Diagnosis
, vol.21
, Issue.3
, pp. 214-222
-
-
De Rycke, M.1
Van De Velde, H.2
Sermon, K.3
Lissens, W.4
De Vos, A.5
Vandervorst, M.6
Vanderfaeillie, A.7
Van Steirteghem, A.8
Liebaers, I.9
-
15
-
-
0042021866
-
Birth of healthy children after preimplantation diagnosis of β-thalassemia by whole-genome amplification
-
DOI 10.1002/pd.659
-
Z Jiao C Zhou J Li, et al. 2003 Birth of healthy children after preimplantation diagnosis of beta-thalassemia by whole genome amplification Prenat Diagn 23 646 651 12913871 10.1002/pd.659 1:CAS:528:DC%2BD3sXnsVSlsrc%3D (Pubitemid 36987407)
-
(2003)
Prenatal Diagnosis
, vol.23
, Issue.8
, pp. 646-651
-
-
Jiao, Z.1
Zhou, C.2
Li, J.3
Shu, Y.4
Liang, X.5
Zhang, M.6
Zhuang, G.7
-
16
-
-
0031196688
-
Single cell detection of β-thalassaemia mutations using silver stained SSCP analysis: An application for preimplantation diagnosis
-
N El-Hashemite D Wells JD Delhanty 1997 Single cell detection of beta-thalassemia mutations using silver stained SSCP analysis: an application for preimplantation diagnosis Mol Hum Reprod 3 693 698 9294853 10.1093/molehr/3.8.693 1:CAS:528:DyaK2sXmsValu7g%3D (Pubitemid 127509726)
-
(1997)
Molecular Human Reproduction
, vol.3
, Issue.8
, pp. 693-698
-
-
El-Hashemite, N.1
Wells, D.2
Delhanty, J.D.A.3
-
17
-
-
18344396798
-
Comprehensive human genome amplification using multiple displacement amplification
-
DOI 10.1073/pnas.082089499
-
FB Dean S Hosono L Fang, et al. 2002 Comprehensive human genome amplification using multiple displacement amplification Proc Natl Acad Sci USA 99 5261 5266 11959976 10.1073/pnas.082089499 1:CAS:528:DC%2BD38XjtFKlsrw%3D (Pubitemid 34411536)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.8
, pp. 5261-5266
-
-
Dean, F.B.1
Hosono, S.2
Fang, L.3
Wu, X.4
Faruqi, A.F.5
Bray-Ward, P.6
Sun, Z.7
Zong, Q.8
Du, Y.9
Du, J.10
Driscoll, M.11
Song, W.12
Kingsmore, S.F.13
Egholm, M.14
Lasken, R.S.15
-
18
-
-
0038781878
-
Unbiased whole-genome amplification directly from clinical samples
-
DOI 10.1101/gr.816903
-
S Hosono AF Faruqi FB Dean, et al. 2003 Unbiased whole-genome amplification directly from clinical samples Genome Res 13 954 964 12695328 10.1101/gr.816903 1:CAS:528:DC%2BD3sXjs1Oqu70%3D (Pubitemid 36621755)
-
(2003)
Genome Research
, vol.13
, Issue.5
, pp. 954-964
-
-
Hosono, S.1
Faruqi, A.F.2
Dean, F.B.3
Du, Y.4
Sun, Z.5
Wu, X.6
Du, J.7
Kingsmore, S.F.8
Egholm, M.9
Lasken, R.S.10
-
19
-
-
34248678989
-
Whole-genome multiple displacement amplification from single cells
-
DOI 10.1038/nprot.2006.326, PII NPROT.2006.326
-
C Spits C Le Caignec M De Rycke I Liebaers K Sermon, et al. 2006 Whole-genome multiple displacement amplification from single cells Nat Protoc 1 4 1965 1970 17487184 10.1038/nprot.2006.326 1:CAS:528:DC%2BD2sXhtFagtrvM (Pubitemid 46773319)
-
(2006)
Nature Protocols
, vol.1
, Issue.4
, pp. 1965-1970
-
-
Spits, C.1
Le Caignec, C.2
De Rycke, M.3
Van Haute, L.4
Van Steirteghem, A.5
Liebaers, I.6
Sermon, K.7
-
20
-
-
59249091687
-
Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification
-
18359022 10.1016/j.fertnstert.2007.11.044 1:CAS:528:DC%2BD1MXnsF2nsL0%3D
-
Z Ren HT Zeng YW Xu, et al. 2009 Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification Fertil Steril 91 359 364 18359022 10.1016/j.fertnstert.2007.11.044 1:CAS:528: DC%2BD1MXnsF2nsL0%3D
-
(2009)
Fertil Steril
, vol.91
, pp. 359-364
-
-
Ren, Z.1
Zeng, H.T.2
Xu, Y.W.3
-
21
-
-
33749257285
-
Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification
-
DOI 10.1016/j.fertnstert.2006.03.036, PII S0015028206011812
-
B Lledo H Ten FM Galan R Bernabeu 2006 Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification Fertil Steril 86 949 955 17027361 10.1016/j.fertnstert.2006.03.036 1:CAS:528:DC%2BD28Xht1eht7zI (Pubitemid 44485049)
-
(2006)
Fertility and Sterility
, vol.86
, Issue.4
, pp. 949-955
-
-
Lledo, B.1
Ten, J.2
Galan, F.M.3
Bernabeu, R.4
-
22
-
-
67651098959
-
Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification
-
F Judy C Chow S William B Yeung Y Estella L Lau, et al. 2009 Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification Fertil Steril 92 828 827
-
(2009)
Fertil Steril
, vol.92
, pp. 828-827
-
-
Judy, F.1
Chow, C.2
William, S.3
Yeung, B.4
Estella, Y.5
Lau, L.6
-
23
-
-
77951652338
-
Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells
-
Renwick PL, Trussler J, Lashwood A, et al. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod Biomed Online. 2010;20:470-76.
-
(2010)
Reprod Biomed Online
, vol.20
, pp. 470-76
-
-
Renwick, P.L.1
Trussler, J.2
Lashwood, A.3
-
24
-
-
77956413044
-
Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification
-
10.1007/s10815-010-9432-5
-
C Eduardo M Marleen R Mark D Ellis, et al. 2010 Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification J Assist Reprod Genet 27 397 407 10.1007/s10815-010-9432-5
-
(2010)
J Assist Reprod Genet
, vol.27
, pp. 397-407
-
-
Eduardo, C.1
Marleen, M.2
Mark, R.3
Ellis, D.4
-
25
-
-
34447512717
-
Mutation and haplotype analysis for Duchenne muscular dystrophy by single cell multiple displacement amplification
-
DOI 10.1093/molehr/gam020
-
Z Ren C Zhou Y Xu J Deng H Zeng Y Zeng 2007 Mutation and haplotype analysis for Duchenne muscular dystrophy by single cell multiple displacement amplification Mol Hum Reprod 6 431 436 10.1093/molehr/gam020 (Pubitemid 47073583)
-
(2007)
Molecular Human Reproduction
, vol.13
, Issue.6
, pp. 431-436
-
-
Ren, Z.1
Zhou, C.2
Xu, Y.3
Deng, J.4
Zeng, H.5
Zeng, Y.6
-
26
-
-
0026602165
-
Carrier detection and prenatal diagnosis of alpha-thalassemia of Southest Asian deletion by polymerase chain reaction
-
1733825 10.1007/BF00197254 1:STN:280:DyaK387ivVyrtw%3D%3D
-
TM Ko LH Tseng FJ Hsieh, et al. 1992 Carrier detection and prenatal diagnosis of alpha-thalassemia of Southest Asian deletion by polymerase chain reaction Hum Genet 88 245 248 1733825 10.1007/BF00197254 1:STN:280: DyaK387ivVyrtw%3D%3D
-
(1992)
Hum Genet
, vol.88
, pp. 245-248
-
-
Ko, T.M.1
Tseng, L.H.2
Hsieh, F.J.3
-
27
-
-
0026000932
-
An approach to preimplantation diagnosis of beta-thalassemia
-
1800989 10.1002/pd.1970111006 1:STN:280:DyaK387ps1Shtg%3D%3D
-
NY Varawalla A Dokras JM Old IL Sargent DH Barlow 1991 An approach to preimplantation diagnosis of beta-thalassemia Prenat Diagn 11 775 785 1800989 10.1002/pd.1970111006 1:STN:280:DyaK387ps1Shtg%3D%3D
-
(1991)
Prenat Diagn
, vol.11
, pp. 775-785
-
-
Varawalla, N.Y.1
Dokras, A.2
Old, J.M.3
Sargent, I.L.4
Barlow, D.H.5
-
28
-
-
0000889576
-
A rapid reverse dot blot assay for all 18 beta-thalassemia in Chinese population
-
JZ Zhang XM Xu WF Ma YX Shan 1993 A rapid reverse dot blot assay for all 18 beta-thalassemia in Chinese population J Med Coll PLA 8 213 219
-
(1993)
J Med Coll PLA
, vol.8
, pp. 213-219
-
-
Zhang, J.Z.1
Xu, X.M.2
Ma, W.F.3
Shan, Y.X.4
-
29
-
-
84855712829
-
Prenatal diagnosis of β-thalassemia on fetal DNA and in maternal plasma by fluorescent polymerase chain reaction
-
C Ping L Mujun Z Linying, et al. 2008 Prenatal diagnosis of β-thalassemia on fetal DNA and in maternal plasma by fluorescent polymerase chain reaction Journal of Guangxi Medical University 25 171 174
-
(2008)
Journal of Guangxi Medical University
, vol.25
, pp. 171-174
-
-
Ping, C.1
Mujun, L.2
Linying, Z.3
-
30
-
-
7144253137
-
Preimplantation diagnosis of thalassemias
-
DOI 10.1023/A:1022571822585
-
A Kuliev S Rechitsky O Verlinsky, et al. 1998 Preimplantation diagnosis of thalassemia J Assist Reprod Genet 15 219 225 9604751 10.1023/A:1022571822585 1:STN:280:DyaK1c3mvVWisg%3D%3D (Pubitemid 28223979)
-
(1998)
Journal of Assisted Reproduction and Genetics
, vol.15
, Issue.5
, pp. 219-225
-
-
Kuliev, A.1
Rechitsky, S.2
Verlinsky, O.3
Ivakhnenko, V.4
Evsikov, S.5
Wolf, G.6
Angastiniotis, M.7
Georghiou, D.8
Kukharenko, V.9
Strom, C.10
Verlinsky, Y.11
|