-
1
-
-
0033926516
-
Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions
-
10.1086/302878, 1378008, 10741955
-
Lomax B, Tang S, Separovic E, Phillips D, Hillard E, Thomson T, Kalousek DK. Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions. Am J Hum Genet 2000, 66:1516-1521. 10.1086/302878, 1378008, 10741955.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1516-1521
-
-
Lomax, B.1
Tang, S.2
Separovic, E.3
Phillips, D.4
Hillard, E.5
Thomson, T.6
Kalousek, D.K.7
-
2
-
-
3543135306
-
Cytogenetic abnormalities in products of conception: A relationship revisited
-
10.1111/j.1600-0897.2004.00196.x, 15214948
-
Yusuf RZ, Naeem R. Cytogenetic abnormalities in products of conception: A relationship revisited. Am J Reprod Immunol 2004, 52:88-96. 10.1111/j.1600-0897.2004.00196.x, 15214948.
-
(2004)
Am J Reprod Immunol
, vol.52
, pp. 88-96
-
-
Yusuf, R.Z.1
Naeem, R.2
-
3
-
-
28544432673
-
Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)
-
10.1002/pd.1247, 16231311
-
Hochstenbach R, Meijer J, van de Brug J, Vossebeld-Hoff I, Jansen R, van der Luijt RB, Sinke RJ, Page-Christiaens GC, Ploos van Amstel JK, de Pater JM. Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Prenat Diagn 2005, 25:1032-1039. 10.1002/pd.1247, 16231311.
-
(2005)
Prenat Diagn
, vol.25
, pp. 1032-1039
-
-
Hochstenbach, R.1
Meijer, J.2
van de Brug, J.3
Vossebeld-Hoff, I.4
Jansen, R.5
van der Luijt, R.B.6
Sinke, R.J.7
Page-Christiaens, G.C.8
Ploos van Amstel, J.K.9
de Pater, J.M.10
-
4
-
-
0032863575
-
The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. Collaborative Study. Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party
-
10.1002/(SICI)1097-0223(199909)19:9<817::AID-PD647>3.0.CO;2-8, 10521838
-
Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J. The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. Collaborative Study. Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party. Prenat Diagn 1999, 19:817-826. 10.1002/(SICI)1097-0223(199909)19:9<817::AID-PD647>3.0.CO;2-8, 10521838.
-
(1999)
Prenat Diagn
, vol.19
, pp. 817-826
-
-
Smith, K.1
Lowther, G.2
Maher, E.3
Hourihan, T.4
Wilkinson, T.5
Wolstenholme, J.6
-
5
-
-
0025881002
-
Detection of aneuploidy involving chromosomes 13, 18 or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes
-
1683225, 2063863
-
Kuo WL, Tenjin H, Segraves R, Pinkel D, Golbus MS, Gray J. Detection of aneuploidy involving chromosomes 13, 18 or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes. Am J Hum Genet 1991, 49:112-119. 1683225, 2063863.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 112-119
-
-
Kuo, W.L.1
Tenjin, H.2
Segraves, R.3
Pinkel, D.4
Golbus, M.S.5
Gray, J.6
-
6
-
-
0026636703
-
Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH)
-
1682861, 1609805
-
Klinger K, Landes G, Shook D, Harvey R, Lopez L, Locke P, Lerner T, Osathanondh R, Leverone B, Houseal T, Pavelka K, Dackowski W. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet 1992, 51:55-65. 1682861, 1609805.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 55-65
-
-
Klinger, K.1
Landes, G.2
Shook, D.3
Harvey, R.4
Lopez, L.5
Locke, P.6
Lerner, T.7
Osathanondh, R.8
Leverone, B.9
Houseal, T.10
Pavelka, K.11
Dackowski, W.12
-
7
-
-
0027534753
-
Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms
-
10.1093/hmg/2.1.43, 8490622
-
Mansfield ES. Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 1993, 2:43-50. 10.1093/hmg/2.1.43, 8490622.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 43-50
-
-
Mansfield, E.S.1
-
8
-
-
0027365371
-
Rapid prenatal diagnosis of chromosomal aneuplodies by fluorescence in situ hybridisation: clinical experience with 4500 specimens
-
1682052, 8488836
-
Ward BE, Gersen SL, Carelli MP, McGuire NM, Dackowski WR, Weinstein M, Sandlin C, Warren R, Klinger KW. Rapid prenatal diagnosis of chromosomal aneuplodies by fluorescence in situ hybridisation: clinical experience with 4500 specimens. Am J Hum Genet 1993, 52:854-865. 1682052, 8488836.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 854-865
-
-
Ward, B.E.1
Gersen, S.L.2
Carelli, M.P.3
McGuire, N.M.4
Dackowski, W.R.5
Weinstein, M.6
Sandlin, C.7
Warren, R.8
Klinger, K.W.9
-
9
-
-
0028676251
-
Prenatal aneuploidy detection in interphase cells by fluorescence in siu hybridization (FISH)
-
10.1002/pd.1970141306, 7617567
-
Philip J, Bryndorf B, Christensen B. Prenatal aneuploidy detection in interphase cells by fluorescence in siu hybridization (FISH). Prenat Diagn 1994, 14:1203-1215. 10.1002/pd.1970141306, 7617567.
-
(1994)
Prenat Diagn
, vol.14
, pp. 1203-1215
-
-
Philip, J.1
Bryndorf, B.2
Christensen, B.3
-
10
-
-
0029328411
-
Rapid detection of selected aneuploidies by quantitative fluorescent PCR
-
10.1002/bies.950170712, 7646488
-
Adinolfi M, Sherlock J, Pertl B. Rapid detection of selected aneuploidies by quantitative fluorescent PCR. Bioessays 1995, 17:661-664. 10.1002/bies.950170712, 7646488.
-
(1995)
Bioessays
, vol.17
, pp. 661-664
-
-
Adinolfi, M.1
Sherlock, J.2
Pertl, B.3
-
11
-
-
0035968604
-
Development and implementation of a new rapid aneuploidy diagnostic service within the UK National health service and implications for the future of prenatal diagnosis
-
10.1016/S0140-6736(01)06183-9, 11589937
-
Mann K, Fox SP, Abbs SJ, Yau SC, Scriven PN, Docherty Z, Ogilvie CM. Development and implementation of a new rapid aneuploidy diagnostic service within the UK National health service and implications for the future of prenatal diagnosis. Lancet 2001, 358:1057-1061. 10.1016/S0140-6736(01)06183-9, 11589937.
-
(2001)
Lancet
, vol.358
, pp. 1057-1061
-
-
Mann, K.1
Fox, S.P.2
Abbs, S.J.3
Yau, S.C.4
Scriven, P.N.5
Docherty, Z.6
Ogilvie, C.M.7
-
12
-
-
7744225371
-
Strategies for the rapid prenatal diagnosis of chromosome aneuploidy
-
10.1038/sj.ejhg.5201224, 15292918
-
Mann K, Donaghue C, Fox SP, Docherty Z, Ogilvie CM. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 2004, 12:907-915. 10.1038/sj.ejhg.5201224, 15292918.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 907-915
-
-
Mann, K.1
Donaghue, C.2
Fox, S.P.3
Docherty, Z.4
Ogilvie, C.M.5
-
13
-
-
0035016839
-
Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature
-
10.1002/pd.57, 11288120
-
Tepperberg J, Pettenati MJ, Rao PN, Lese CM, Rita D, Wyandt H, Gersen S, White B, Schoonmaker MM. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn 2001, 21:293-301. 10.1002/pd.57, 11288120.
-
(2001)
Prenat Diagn
, vol.21
, pp. 293-301
-
-
Tepperberg, J.1
Pettenati, M.J.2
Rao, P.N.3
Lese, C.M.4
Rita, D.5
Wyandt, H.6
Gersen, S.7
White, B.8
Schoonmaker, M.M.9
-
14
-
-
0036173354
-
Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH)
-
10.1002/pd.225, 11810646
-
Witters I, Devriendt K, Legius E, Matthijs G, Van Schoubroeck D, Van Assche FA, Fryns JP. Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat Diagn 2002, 22:29-33. 10.1002/pd.225, 11810646.
-
(2002)
Prenat Diagn
, vol.22
, pp. 29-33
-
-
Witters, I.1
Devriendt, K.2
Legius, E.3
Matthijs, G.4
Van Schoubroeck, D.5
Van Assche, F.A.6
Fryns, J.P.7
-
15
-
-
32944461753
-
The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing
-
10.1111/j.1471-0528.2005.00695.x, 16167939
-
Ogilvie CM, Lashwood A, Chitty L, Waters JJ, Scriven PN, Flinter F. The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing. BJOG 2005, 112:1369-1375. 10.1111/j.1471-0528.2005.00695.x, 16167939.
-
(2005)
BJOG
, vol.112
, pp. 1369-1375
-
-
Ogilvie, C.M.1
Lashwood, A.2
Chitty, L.3
Waters, J.J.4
Scriven, P.N.5
Flinter, F.6
-
16
-
-
0036849384
-
X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies
-
10.1093/molehr/8.11.1042, 12397218
-
Cirigliano V, Ejarque M, Fuster C, Adinolfi M. X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. Mol Hum Reprod 2002, 8:1042-1045. 10.1093/molehr/8.11.1042, 12397218.
-
(2002)
Mol Hum Reprod
, vol.8
, pp. 1042-1045
-
-
Cirigliano, V.1
Ejarque, M.2
Fuster, C.3
Adinolfi, M.4
-
17
-
-
19944407550
-
Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples
-
10.1093/molehr/gah108, 15361554
-
Cirigliano V, Voglino G, Cañadas MP, Marongiu A, Ejarque M, Ordoñez E, Plaja A, Massobrio M, Todros T, Fuster C, Campogrande M, Egozcue J, Adinolfi M. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples. Mol Hum Reprod 2004, 10:839-846. 10.1093/molehr/gah108, 15361554.
-
(2004)
Mol Hum Reprod
, vol.10
, pp. 839-846
-
-
Cirigliano, V.1
Voglino, G.2
Cañadas, M.P.3
Marongiu, A.4
Ejarque, M.5
Ordoñez, E.6
Plaja, A.7
Massobrio, M.8
Todros, T.9
Fuster, C.10
Campogrande, M.11
Egozcue, J.12
Adinolfi, M.13
-
18
-
-
33749573864
-
Rapid prenatal diagnosis by QF-PCR: evaluation of 30,000 consecutive clinical samples and future applications
-
10.1196/annals.1368.039, 17108223
-
Cirigliano V, Voglino G, Marongiu A, Cañadas P, Ordoñez E, Lloveras E, Plaja A, Fuster C, Adinolfi M. Rapid prenatal diagnosis by QF-PCR: evaluation of 30,000 consecutive clinical samples and future applications. Ann N Y Acad Sci 2006, 1075:288-298. 10.1196/annals.1368.039, 17108223.
-
(2006)
Ann N Y Acad Sci
, vol.1075
, pp. 288-298
-
-
Cirigliano, V.1
Voglino, G.2
Marongiu, A.3
Cañadas, P.4
Ordoñez, E.5
Lloveras, E.6
Plaja, A.7
Fuster, C.8
Adinolfi, M.9
-
19
-
-
34247230944
-
Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in theprenatal diagnosis of trisomy 21 in three CVS
-
10.1002/pd.1675, 17286305
-
Waters JJ, Mann K, Grimsley L, Ogilvie CM, Donaghue C, Staples L, Hills A, Adams T, Wilson C. Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in theprenatal diagnosis of trisomy 21 in three CVS. Prenat Diagn 2007, 27:332-339. 10.1002/pd.1675, 17286305.
-
(2007)
Prenat Diagn
, vol.27
, pp. 332-339
-
-
Waters, J.J.1
Mann, K.2
Grimsley, L.3
Ogilvie, C.M.4
Donaghue, C.5
Staples, L.6
Hills, A.7
Adams, T.8
Wilson, C.9
-
20
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
10.1093/nar/gnf056, 117299, 12060695
-
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. 10.1093/nar/gnf056, 117299, 12060695.
-
(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
-
21
-
-
1642544630
-
Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA)
-
10.1136/jmg.40.12.907, 1735348, 14684689
-
Slater HR, Bruno DL, Ren H, Pertile M, Schouten JP, Choo KH. Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). J Med Genet 2003, 40:907-912. 10.1136/jmg.40.12.907, 1735348, 14684689.
-
(2003)
J Med Genet
, vol.40
, pp. 907-912
-
-
Slater, H.R.1
Bruno, D.L.2
Ren, H.3
Pertile, M.4
Schouten, J.P.5
Choo, K.H.6
-
22
-
-
2342578875
-
MLPA and MAPH: new techniques for detection of gene deletions
-
10.1002/humu.20035, 15108271
-
Sellner LN, Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004, 23:413-419. 10.1002/humu.20035, 15108271.
-
(2004)
Hum Mutat
, vol.23
, pp. 413-419
-
-
Sellner, L.N.1
Taylor, G.R.2
-
23
-
-
67650088561
-
Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15
-
10.1373/clinchem.2009.124958, 19423733
-
Ganesamoorthy D, Bruno DL, Schoumans J, Storey E, Delatycki MB, Zhu D, Wei MK, Nicholson GA, McKinlay Gardner RJ, Slater HR. Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15. Clin Chem 2009, 55:1415-1418. 10.1373/clinchem.2009.124958, 19423733.
-
(2009)
Clin Chem
, vol.55
, pp. 1415-1418
-
-
Ganesamoorthy, D.1
Bruno, D.L.2
Schoumans, J.3
Storey, E.4
Delatycki, M.B.5
Zhu, D.6
Wei, M.K.7
Nicholson, G.A.8
McKinlay Gardner, R.J.9
Slater, H.R.10
-
24
-
-
20344366588
-
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
-
10.1007/s00439-005-1270-7, 15841391
-
Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, Guanciali-Franchi P, Calabrese G, Uncini A, Stuppia L. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet 2005, 117:92-98. 10.1007/s00439-005-1270-7, 15841391.
-
(2005)
Hum Genet
, vol.117
, pp. 92-98
-
-
Gatta, V.1
Scarciolla, O.2
Gaspari, A.R.3
Palka, C.4
De Angelis, M.V.5
Di Muzio, A.6
Guanciali-Franchi, P.7
Calabrese, G.8
Uncini, A.9
Stuppia, L.10
-
25
-
-
33644814036
-
Deletion and duplication screening in the DMD gene using MLPA
-
10.1038/sj.ejhg.5201465, 16030524
-
Lalic T, Vossen RH, Coffa J, Schouten JP, Guc-Scekic M, Radivojevic D, Djurisic M, Breuning MH, White SJ, den Dunnen JT. Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005, 13:1231-1234. 10.1038/sj.ejhg.5201465, 16030524.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1231-1234
-
-
Lalic, T.1
Vossen, R.H.2
Coffa, J.3
Schouten, J.P.4
Guc-Scekic, M.5
Radivojevic, D.6
Djurisic, M.7
Breuning, M.H.8
White, S.J.9
den Dunnen, J.T.10
-
26
-
-
57649228924
-
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
-
10.1038/ejhg.2008.161, 2985961, 18781187
-
van Opstal D, Boter M, de Jong D, van den Berg C, Brüggenwirth HT, Wildschut HI, de Klein A, Galjaard RJ. Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples. Eur J Hum Genet 2009, 17:112-121. 10.1038/ejhg.2008.161, 2985961, 18781187.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 112-121
-
-
van Opstal, D.1
Boter, M.2
de Jong, D.3
van den Berg, C.4
Brüggenwirth, H.T.5
Wildschut, H.I.6
de Klein, A.7
Galjaard, R.J.8
-
27
-
-
38149091561
-
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients
-
10.1002/humu.20613, 17854090
-
Zeng F, Ren ZR, Huang SZ, Kalf M, Mommersteeg M, Smit M, White S, Jin CL, Xu M, Zhou DW, Yan JB, Chen MJ, van Beuningen R, Huang SZ, den Dunnen J, Zeng YT, Wu Y. Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. Hum Mutat 2008, 29:190-197. 10.1002/humu.20613, 17854090.
-
(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
-
28
-
-
0003676646
-
An international system for human cytogenetic nomenclature
-
Shaffer LG, Slovak ML, Campbell LJ. An international system for human cytogenetic nomenclature. 2009, 16-31.
-
(2009)
, pp. 16-31
-
-
Shaffer, L.G.1
Slovak, M.L.2
Campbell, L.J.3
-
29
-
-
0037969053
-
Fast and specific hybridisation using flow-through microarrays on porous metal oxide
-
van Beuningen R, van Damme H, Boender P, Bastiaensen N, Chan A, Kievits T. Fast and specific hybridisation using flow-through microarrays on porous metal oxide. Clin Chem 2001, 47:1931-1933.
-
(2001)
Clin Chem
, vol.47
, pp. 1931-1933
-
-
van Beuningen, R.1
van Damme, H.2
Boender, P.3
Bastiaensen, N.4
Chan, A.5
Kievits, T.6
-
30
-
-
4344694341
-
Quantitative assessment of a novel flow-through porous microarray for the rapid analysis of gene expression profiles
-
10.1093/nar/gnh118, 516077, 15333674
-
Wu Y, de Kievit P, Vahlkamp L, Pijnenburg D, Smit M, Dankers M, Melchers D, Stax M, Boender PJ, Ingham C, Bastiaensen N, de Wijn R, van Alewijk D, van Damme H, Raap AK, Chan AB, van Beuningen R. Quantitative assessment of a novel flow-through porous microarray for the rapid analysis of gene expression profiles. Nucleic Acids Res 2004, 32:e123. 10.1093/nar/gnh118, 516077, 15333674.
-
(2004)
Nucleic Acids Res
, vol.32
-
-
Wu, Y.1
de Kievit, P.2
Vahlkamp, L.3
Pijnenburg, D.4
Smit, M.5
Dankers, M.6
Melchers, D.7
Stax, M.8
Boender, P.J.9
Ingham, C.10
Bastiaensen, N.11
de Wijn, R.12
van Alewijk, D.13
van Damme, H.14
Raap, A.K.15
Chan, A.B.16
van Beuningen, R.17
-
31
-
-
33747026216
-
Microarray MAPH: accurate array-based detection of relative copy number in genomic DNA
-
10.1186/1471-2164-7-163, 1533824, 16813644
-
Gibbons B, Datta P, Wu Y, Chan A, Armour JA. Microarray MAPH: accurate array-based detection of relative copy number in genomic DNA. BMC Genomics 2006, 7:163. 10.1186/1471-2164-7-163, 1533824, 16813644.
-
(2006)
BMC Genomics
, vol.7
, pp. 163
-
-
Gibbons, B.1
Datta, P.2
Wu, Y.3
Chan, A.4
Armour, J.A.5
-
32
-
-
29144480573
-
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
-
10.1136/jmg.2005.033597, 1735959, 15894596
-
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, 42:922-931. 10.1136/jmg.2005.033597, 1735959, 15894596.
-
(2005)
J Med Genet
, vol.42
, pp. 922-931
-
-
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
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