-
1
-
-
67650735159
-
Genomic copy number variation, human health, and disease
-
L.V. Wain, J.A. Armour, M.D. Tobin, Genomic copy number variation, human health, and disease, Lancet 374 (2009) 340-350.
-
(2009)
Lancet
, vol.374
, pp. 340-350
-
-
Wain, L.V.1
Armour, J.A.2
Tobin, M.D.3
-
3
-
-
0035320886
-
Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias
-
DOI 10.1038/35066048
-
D.J. Weatherall, Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias, Nat. Rev. Genet. 2 (2001) 245-255. (Pubitemid 33674773)
-
(2001)
Nature Reviews Genetics
, vol.2
, Issue.4
, pp. 245-255
-
-
Weatherall, D.J.1
-
5
-
-
34347361618
-
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
-
DOI 10.1038/ng2092, PII NG2092
-
C. Lee, A.J. Iafrate, A.R. Brothman, Copy number variations and clinical cytogenetic diagnosis of constitutional disorders, Nat. Genet. 39 (2007) S48-S54. (Pubitemid 47014476)
-
(2007)
Nature Genetics
, vol.39
, Issue.SUPPL. 1
-
-
Lee, C.1
Iafrate, A.J.2
Brothman, A.R.3
-
6
-
-
35649021296
-
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization
-
DOI 10.1002/humu.20581
-
Y.S. Fan, P. Jayakar, H. Zhu, D. Barbouth, S. Sacharow, A. Morales, V. Carver, P. Benke, P. Mundy, L.J. Elsas, Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization, Hum. Mutat. 28 (2007) 1124-1132. (Pubitemid 350036917)
-
(2007)
Human Mutation
, vol.28
, Issue.11
, pp. 1124-1132
-
-
Fan, Y.-S.1
Jayakar, P.2
Zhu, H.3
Barbouth, D.4
Sacharow, S.5
Morales, A.6
Carver, V.7
Benke, P.8
Mundy, P.9
Elsas, L.J.10
-
7
-
-
52949093111
-
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
-
G.M. Cooper, T. Zerr, J.M. Kidd, E.E. Eichler, D.A. Nickerson, Systematic assessment of copy number variant detection via genome-wide SNP genotyping, Nat. Genet. 40 (2008) 1199-1203.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1199-1203
-
-
Cooper, G.M.1
Zerr, T.2
Kidd, J.M.3
Eichler, E.E.4
Nickerson, D.A.5
-
8
-
-
43049143055
-
Mapping and sequencing of structural variation from eight human genomes
-
DOI 10.1038/nature06862, PII NATURE06862
-
J.M. Kidd, G.M. Cooper, W.F. Donahue, H.S. Hayden, N. Sampas, T. Graves, N. Hansen, B. Teague, C. Alkan, F. Antonacci, E. Haugen, T. Zerr, N.A. Yamada, P. Tsang, T.L. Newman, E. Tuzun, Z. Cheng, H.M. Ebling, N. Tusneem, R. David, W. Gillett, K.A. Phelps, M. Weaver, D. Saranga, A. Brand, W. Tao, E. Gustafson, K. McKernan, L. Chen, M. Malig, J.D. Smith, J.M. Korn, S.A. McCarroll, D.A. Altshuler, D.A. Peiffer, M. Dorschner, J. Stamatoyannopoulos, D. Schwartz, D.A. Nickerson, J.C. Mullikin, R.K. Wilson, L. Bruhn, M.V. Olson, R. Kaul, D.R. Smith, E.E. Eichler, Mapping and sequencing of structural variation from eight human genomes, Nature 453 (2008) 56-64. (Pubitemid 351630326)
-
(2008)
Nature
, vol.453
, Issue.7191
, pp. 56-64
-
-
Kidd, J.M.1
Cooper, G.M.2
Donahue, W.F.3
Hayden, H.S.4
Sampas, N.5
Graves, T.6
Hansen, N.7
Teague, B.8
Alkan, C.9
Antonacci, F.10
Haugen, E.11
Zerr, T.12
Yamada, N.A.13
Tsang, P.14
Newman, T.L.15
Tuzun, E.16
Cheng, Z.17
Ebling, H.M.18
Tusneem, N.19
David, R.20
Gillett, W.21
Phelps, K.A.22
Weaver, M.23
Saranga, D.24
Brand, A.25
Tao, W.26
Gustafson, E.27
McKernan, K.28
Chen, L.29
Malig, M.30
Smith, J.D.31
Korn, J.M.32
McCarroll, S.A.33
Altshuler, D.A.34
Peiffer, D.A.35
Dorschner, M.36
Stamatoyannopoulos, J.37
Schwartz, D.38
Nickerson, D.A.39
Mullikin, J.C.40
Wilson, R.K.41
Bruhn, L.42
Olson, M.V.43
Kaul, R.44
Smith, D.R.45
Eichler, E.E.46
more..
-
9
-
-
18444368121
-
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization
-
DOI 10.1086/341942
-
S. White, M. Kalf, Q. Liu, M. Villerius, D. Engelsma, M. Kriek, E. Vollebregt, B. Bakker, G.J. van Ommen, M.H. Breuning, J.T. den Dunnen, Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization, Am. J. Hum. Genet. 71 (2002) 365-374. (Pubitemid 34800252)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.2
, pp. 365-374
-
-
White, S.1
Kalf, M.2
Liu, Q.3
Villerius, M.4
Engelsma, D.5
Kriek, M.6
Vollebregt, E.7
Bakker, B.8
Van Ommen, G.-J.B.9
Breuning, M.H.10
Den, D.J.T.11
-
10
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
J.P. Schouten, C.J. McElgunn, R. Waaijer, D. Zwijnenburg, F. Diepvens, G. Pals, Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification, Nucleic Acids Res. 30 (2002) 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
-
11
-
-
38149091561
-
Array-MLPA: Comprehensive detection of deletions and duplications and its application to DMD patients
-
F. Zeng, Z.R. Ren, S.Z. Huang, M. Kalf, M. Mommersteeg, M. Smit, S. White, C.L. Jin, M. Xu, D.W. Zhou, J.B. Yan, M.J. Chen, R. van Beuningen, S.Z. Huang, J. den Dunnen, Y.T. Zeng, Y. Wu, Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients, Hum. Mutat. 29 (2008) 190-197.
-
(2008)
Hum. Mutat.
, vol.29
, pp. 190-197
-
-
Zeng, F.1
Ren, Z.R.2
Huang, S.Z.3
Kalf, M.4
Mommersteeg, M.5
Smit, M.6
White, S.7
Jin, C.L.8
Xu, M.9
Zhou, D.W.10
Yan, J.B.11
Chen, M.J.12
Van Beuningen, R.13
Huang, S.Z.14
Den Dunnen, J.15
Zeng, Y.T.16
Wu, Y.17
-
12
-
-
33747751247
-
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation
-
DOI 10.1038/sj.ejhg.5201661, PII 5201661
-
P. Saugier-Veber, A. Goldenberg, V. Drouin-Garraud, C. de La Rochebrochard, V. Layet, N. Drouot, N. Le Meur, B. Gilbert-Du-Ssardier, G. Joly-Helas, H. Moirot, A. Rossi, M. Tosi, T. Frebourg, Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation, Eur. J. Hum. Genet. 14 (2006) 1009-1017. (Pubitemid 44275834)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.9
, pp. 1009-1017
-
-
Saugier-Veber, P.1
Goldenberg, A.2
Drouin-Garraud, V.3
De La, R.C.4
Layet, V.5
Drouot, N.6
Le, M.N.7
Gilbert-Du-ssardier, B.8
Joly-Helas, G.9
Moirot, H.10
Rossi, A.11
Tosi, M.12
Frebourg, T.13
-
13
-
-
54049094444
-
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
-
H.C. Mefford, A.J. Sharp, C. Baker, A. Itsara, Z. Jiang, K. Buysse, S. Huang, V.K. Maloney, J.A. Crolla, D. Baralle, A. Collins, C. Mercer, K. Norga, T. de Ravel, K. Devriendt, E.M. Bongers, N. de Leeuw, W. Reardon, S. Gimelli, F. Bena, R.C. Hennekam, A. Male, L. Gaunt, J. Clayton-Smith, I. Simonic, S.M. Park, S.G. Mehta, S. Nik-Zainal, C.G. Woods, H.V. Firth, G. Parkin, M. Fichera, S. Reitano, G.M. Lo, K.E. Li, I. Casuga, A. Broomer, B. Conrad, M. Schwerzmann, L. Raber, S. Gallati, P. Striano, A. Coppola, J.L. Tolmie, E.S. Tobias, C. Lilley, L. Armengol, Y. Spysschaert, P. Verloo, A. De Coene, L. Goossens, G. Mortier, F. Speleman, E. van Binsbergen, M.R. Nelen, R. Hochstenbach, M. Poot, L. Gallagher, M. Gill, J. McClellan, M.C. King, R. Regan, C. Skinner, R.E. Stevenson, S.E. Antonarakis, C. Chen, X. Estivill, B. Menten, G. Gimelli, S. Gribble, S. Schwartz, J.S. Sutcliffe, T. Walsh, S.J. Knight, J. Sebat, C. Romano, C.E. Schwartz, J.A. Veltman, B.B. de Vries, J.R. Vermeesch, J.C. Barber, L. Willatt, M. Tassabehji, E.E. Eichler, Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes, N. Engl. J. Med. 359 (2008) 1685-1699.
-
(2008)
N. Engl. J. Med.
, vol.359
, pp. 1685-1699
-
-
Mefford, H.C.1
Sharp, A.J.2
Baker, C.3
Itsara, A.4
Jiang, Z.5
Buysse, K.6
Huang, S.7
Maloney, V.K.8
Crolla, J.A.9
Baralle, D.10
Collins, A.11
Mercer, C.12
Norga, K.13
De Ravel, T.14
Devriendt, K.15
Bongers, E.M.16
De Leeuw, N.17
Reardon, W.18
Gimelli, S.19
Bena, F.20
Hennekam, R.C.21
Male, A.22
Gaunt, L.23
Clayton-Smith, J.24
Simonic, I.25
Park, S.M.26
Mehta, S.G.27
Nik-Zainal, S.28
Woods, C.G.29
Firth, H.V.30
Parkin, G.31
Fichera, M.32
Reitano, S.33
Lo, G.M.34
Li, K.E.35
Casuga, I.36
Broomer, A.37
Conrad, B.38
Schwerzmann, M.39
Raber, L.40
Gallati, S.41
Striano, P.42
Coppola, A.43
Tolmie, J.L.44
Tobias, E.S.45
Lilley, C.46
Armengol, L.47
Spysschaert, Y.48
Verloo, P.49
De Coene, A.50
Goossens, L.51
Mortier, G.52
Speleman, F.53
Van Binsbergen, E.54
Nelen, M.R.55
Hochstenbach, R.56
Poot, M.57
Gallagher, L.58
Gill, M.59
McClellan, J.60
King, M.C.61
Regan, R.62
Skinner, C.63
Stevenson, R.E.64
Antonarakis, S.E.65
Chen, C.66
Estivill, X.67
Menten, B.68
Gimelli, G.69
Gribble, S.70
Schwartz, S.71
Sutcliffe, J.S.72
Walsh, T.73
Knight, S.J.74
Sebat, J.75
Romano, C.76
Schwartz, C.E.77
Veltman, J.A.78
De Vries, B.B.79
Vermeesch, J.R.80
Barber, J.C.81
Willatt, L.82
Tassabehji, M.83
Eichler, E.E.84
more..
-
14
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
S.A. McCarroll, F.G. Kuruvilla, J.M. Korn, S. Cawley, J. Nemesh, A. Wysoker, M.H. Shapero, P.I. de Bakker, J.B. Maller, A. Kirby, A.L. Elliott, M. Parkin, E. Hubbell, T. Webster, R. Mei, J. Veitch, P.J. Collins, R. Handsaker, S. Lincoln, M. Nizzari, J. Blume, K.W. Jones, R. Rava, M.J. Daly, S.B. Gabriel, D. Altshuler, Integrated detection and population-genetic analysis of SNPs and copy number variation, Nat. Genet. 40 (2008) 1166-1174.
-
(2008)
Nat. Genet.
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
Shapero, M.H.7
De Bakker, P.I.8
Maller, J.B.9
Kirby, A.10
Elliott, A.L.11
Parkin, M.12
Hubbell, E.13
Webster, T.14
Mei, R.15
Veitch, J.16
Collins, P.J.17
Handsaker, R.18
Lincoln, S.19
Nizzari, M.20
Blume, J.21
Jones, K.W.22
Rava, R.23
Daly, M.J.24
Gabriel, S.B.25
Altshuler, D.26
more..
-
15
-
-
44649125947
-
GSTT1 and GSTM1 gene copy number analysis in paraffin-embedded tissue using quantitative real-time PCR
-
N.G. Bediaga, M.A. Alfonso-Sanchez, M. de Renobales, A.M. Rocandio, M. Arroyo, M.M. de Pancorbo, GSTT1 and GSTM1 gene copy number analysis in paraffin-embedded tissue using quantitative real-time PCR, Anal. Biochem. 378 (2008) 221-223.
-
(2008)
Anal. Biochem.
, vol.378
, pp. 221-223
-
-
Bediaga, N.G.1
Alfonso-Sanchez, M.A.2
De Renobales, M.3
Rocandio, A.M.4
Arroyo, M.5
De Pancorbo, M.M.6
-
16
-
-
69549108769
-
Copy-number variation genotyping of GSTT1 and GSTM1 gene deletions by real-time PCR
-
M.J. Rose-Zerilli, S.J. Barton, A.J. Henderson, S.O. Shaheen, J.W. Holloway, Copy-number variation genotyping of GSTT1 and GSTM1 gene deletions by real-time PCR, Clin. Chem. 55 (2009) 1680-1685.
-
(2009)
Clin. Chem.
, vol.55
, pp. 1680-1685
-
-
Rose-Zerilli, M.J.1
Barton, S.J.2
Henderson, A.J.3
Shaheen, S.O.4
Holloway, J.W.5
-
17
-
-
65049089917
-
Determination of CYP2D6 gene copy number by multiplex polymerase chain reaction analysis
-
L.J. Leandro-García, S. Leskelä, C. Montero-Conde, I. Landa, E. López-Jimenez, R. Letón, A. Seeringer, J. Kirchheiner, A. Cascón, M. Robledo, Determination of CYP2D6 gene copy number by multiplex polymerase chain reaction analysis, Anal. Biochem. 389 (2009) 74-76.
-
(2009)
Anal. Biochem.
, vol.389
, pp. 74-76
-
-
Leandro-García, L.J.1
Leskelä, S.2
Montero-Conde, C.3
Landa, I.4
López-Jimenez, E.5
Letón, R.6
Seeringer, A.7
Kirchheiner, J.8
Cascón, A.9
Robledo, M.10
-
18
-
-
27644598230
-
Four-color multiplex reverse transcription polymerase chain reaction - Overcoming its limitations
-
DOI 10.1016/j.ab.2005.06.026
-
K. Persson, K. Hamby, L.A. Ugozzoli, Four-color multiplex reverse transcription polymerase chain reaction-overcoming its limitations, Anal. Biochem. 344 (2005) 33-42. (Pubitemid 41569375)
-
(2005)
Analytical Biochemistry
, vol.344
, Issue.1
, pp. 33-42
-
-
Persson, K.1
Hamby, K.2
Ugozzoli, L.A.3
-
19
-
-
0035412399
-
A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia
-
A.S. Tan, T.C. Quah, P.S. Low, S.S. Chong, A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia, Blood 98 (2001) 250-251.
-
(2001)
Blood
, vol.98
, pp. 250-251
-
-
Tan, A.S.1
Quah, T.C.2
Low, P.S.3
Chong, S.S.4
-
20
-
-
0141615757
-
Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 α-globin gene triplications
-
DOI 10.1373/49.10.1679
-
W. Wang, E.S. Ma, A.Y. Chan, J. Prior, W.N. Erber, L.C. Chan, D.H. Chui, S.S. Chong, Single-tube multiplex-PCR screen for anti-3.7 and anti-4.2 α-globin gene triplications, Clin. Chem. 49 (2003) 1679-1682. (Pubitemid 37194228)
-
(2003)
Clinical Chemistry
, vol.49
, Issue.10
, pp. 1679-1682
-
-
Wang, W.1
Ma, E.S.K.2
Chan, A.Y.Y.3
Prior, J.4
Erber, W.N.5
Chan, L.C.6
Chui, D.H.K.7
Chong, S.S.8
-
21
-
-
0346728757
-
Guideline to reference gene selection for quantitative real-time PCR
-
DOI 10.1016/j.bbrc.2003.11.177
-
A. Radonic, S. Thulke, I.M. Mackay, O. Landt, W. Siegert, A. Nitsche, Guideline to reference gene selection for quantitative real-time PCR, Biochem. Biophys. Res. Commun. 313 (2004) 856-862. (Pubitemid 38050071)
-
(2004)
Biochemical and Biophysical Research Communications
, vol.313
, Issue.4
, pp. 856-862
-
-
Radonic, A.1
Thulke, S.2
Mackay, I.M.3
Landt, O.4
Siegert, W.5
Nitsche, A.6
-
22
-
-
0035710746
-
-ΔΔCT method
-
DOI 10.1006/meth.2001.1262
-
K.J. Livak, T.D. Schmittgen, Analysis of relative gene expression data using real-time quantitative PCR and the 2-ΔΔCT method, Methods 25 (2001) 402-408. (Pubitemid 34164012)
-
(2001)
Methods
, vol.25
, Issue.4
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
23
-
-
2442556148
-
The prevalence and spectrum of α and - thalassaemia in Guangdong Province: Implications for the future health burden and population screening
-
DOI 10.1136/jcp.2003.014456
-
X.M. Xu, Y.Q. Zhou, G.X. Luo, The prevalence and spectrum of α- and - thalassaemia in Guangdong Province. Implications for the future health burden and population screening, J. Clin. Pathol. 57 (2004) 517-522. (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..
-
24
-
-
34447569298
-
Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability
-
DOI 10.1038/nrg2149, PII NRG2149
-
J.S. Beckmann, X. Estivill, S.E. Antonarakis, Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability, Nat. Rev. Genet. 8 (2007) 639-646. (Pubitemid 47077281)
-
(2007)
Nature Reviews Genetics
, vol.8
, Issue.8
, pp. 639-646
-
-
Beckmann, J.S.1
Estivill, X.2
Antonarakis, S.E.3
-
25
-
-
0033983971
-
Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia
-
S.S. Chong, C.D. Boehm, D.R. Higgs, G.R. Cutting, Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia, Blood 95 (2000) 360-362. (Pubitemid 30017265)
-
(2000)
Blood
, vol.95
, Issue.1
, pp. 360-362
-
-
Chong, S.S.1
Boehm, C.D.2
Higgs, D.R.3
Cutting, G.R.4
-
26
-
-
29144480573
-
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and -thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
-
DOI 10.1136/jmg.2005.033597
-
C.L. Harteveld, A. Voskamp, M. Phylipsen, N. Akkermans, J.T. den Dunnen, S.J. White, P.C. Giordano, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and -thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification, J. Med. Genet. 42 (2005) 922-931. (Pubitemid 41811314)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.12
, pp. 922-931
-
-
Harteveld, C.L.1
Voskamp, A.2
Phylipsen, M.3
Akkermans, N.4
Den, D.J.T.5
White, S.J.6
Giordano, P.C.7
-
27
-
-
77956355319
-
Simultaneous detection of trisomies 13, 18, and 21 with multiplex ligation-dependent probe amplification-based real-time PCR
-
Q. Guo, Y. Zhou, X. Wang, Q. Li, Simultaneous detection of trisomies 13, 18, and 21 with multiplex ligation-dependent probe amplification-based real-time PCR, Clin. Chem. 56 (2010) 1451-1459.
-
(2010)
Clin. Chem.
, vol.56
, pp. 1451-1459
-
-
Guo, Q.1
Zhou, Y.2
Wang, X.3
Li, Q.4
-
28
-
-
70349637640
-
Association of α-globin gene quadruplication and heterozygous β-thalassemia in patients with thalassemia intermedia
-
M.C. Sollaino, M.E. Paglietti, L. Perseu, N. Giagu, D. Loi, R. Galanello, Association of α-globin gene quadruplication and heterozygous β-thalassemia in patients with thalassemia intermedia, Haematologica 94 (2009) 1445-1448.
-
(2009)
Haematologica
, vol.94
, pp. 1445-1448
-
-
Sollaino, M.C.1
Paglietti, M.E.2
Perseu, L.3
Giagu, N.4
Loi, D.5
Galanello, R.6
-
29
-
-
0038392511
-
The molecular basis for the thalassaemias in Sri Lanka
-
DOI 10.1046/j.1365-2141.2003.04346.x
-
C.A. Fisher, A. Premawardhena, S. de Silva, G. Perera, S. Rajapaksa, N.A. Olivieri, J.M. Old, D.J. Weatherall, The molecular basis for the thalassaemias in Sri Lanka, Br. J. Haematol. 121 (2003) 662-671. (Pubitemid 36645391)
-
(2003)
British Journal of Haematology
, vol.121
, Issue.4
, pp. 662-671
-
-
Fisher, C.A.1
Premawardhena, A.2
De Silva, S.3
Perera, G.4
Rajapaksa, S.5
Olivieri, N.A.6
Old, J.M.7
Weatherall, D.J.8
-
31
-
-
67449098138
-
Frequency of α-globin gene triplications and their interaction with β-thalassemia mutations
-
P.C. Giordano, M. Bakker-Verwij, C.L. Harteveld, Frequency of α-globin gene triplications and their interaction with β-thalassemia mutations, Hemoglobin 33 (2009) 124-131.
-
(2009)
Hemoglobin
, vol.33
, pp. 124-131
-
-
Giordano, P.C.1
Bakker-Verwij, M.2
Harteveld, C.L.3
-
32
-
-
79960990895
-
The carrier frequency of α-globin gene triplication in an Iranian population with normal or borderline hematological parameters
-
S.F. Moosavi, A. Amirian, B. Zarbakhsh, A. Kordafshari, H. Mirzahoseini, S. Zeinali, M. Karimipoor, The carrier frequency of α-globin gene triplication in an Iranian population with normal or borderline hematological parameters, Hemoglobin 35 (2011) 323-330.
-
(2011)
Hemoglobin
, vol.35
, pp. 323-330
-
-
Moosavi, S.F.1
Amirian, A.2
Zarbakhsh, B.3
Kordafshari, A.4
Mirzahoseini, H.5
Zeinali, S.6
Karimipoor, M.7
-
33
-
-
77951934080
-
The molecular basis of β-thalassemia intermedia in southern China: Genotypic heterogeneity and phenotypic diversity
-
W. Chen, X. Zhang, X. Shang, R. Cai, L. Li, T. Zhou, M. Sun, F. Xiong, X. Xu, The molecular basis of β-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity, BMC Med. Genet. 11 (2010) 31.
-
(2010)
BMC Med. Genet.
, vol.11
, pp. 31
-
-
Chen, W.1
Zhang, X.2
Shang, X.3
Cai, R.4
Li, L.5
Zhou, T.6
Sun, M.7
Xiong, F.8
Xu, X.9
-
34
-
-
70350482745
-
CCL3L1 and HIV/AIDS susceptibility
-
T. Bhattacharya, J. Stanton, E.Y. Kim, K.J. Kunstman, J.P. Phair, L.P. Jacobson, S.M. Wolinsky, CCL3L1 and HIV/AIDS susceptibility, Nat. Med. 15 (2009) 1112-1115.
-
(2009)
Nat. Med.
, vol.15
, pp. 1112-1115
-
-
Bhattacharya, T.1
Stanton, J.2
Kim, E.Y.3
Kunstman, K.J.4
Phair, J.P.5
Jacobson, L.P.6
Wolinsky, S.M.7
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