-
1
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1A (CMT1A)
-
P. Raeymaekers, V. Timmerman, E. Nelis, P. De Jongue, J.E. Hoogendijk, and F. Baas Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1A (CMT1A) Neuromuscul Disord 1 1991 93 97
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 93-97
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
De Jongue, P.4
Hoogendijk, J.E.5
Baas, F.6
-
2
-
-
0035046886
-
New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis
-
J.L. Badano, K. Inoue, N. Katsanis, and J.R. Lupski New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis Clin Chem 47 2001 838 843
-
(2001)
Clin Chem
, vol.47
, pp. 838-843
-
-
Badano, J.L.1
Inoue, K.2
Katsanis, N.3
Lupski, J.R.4
-
3
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
J.R. Lupski, R.M. de Oca-Luna, S. Slaugenhaupt, L. Pentao, V. Guzzetta, and B.J. Trask DNA duplication associated with Charcot-Marie-Tooth disease type 1A Cell 66 1991 219 232
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
De Oca-Luna, R.M.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
-
4
-
-
0031004203
-
Diagnosis of the CMT1A duplication and HNPP deletion by interphase FISH: Implications for testing in the cytogenetic laboratory
-
L.G. Shaffer, G.M. Kennedy, A.S. Spliker, and J.R. Lupski Diagnosis of the CMT1A duplication and HNPP deletion by interphase FISH: implications for testing in the cytogenetic laboratory Am J Med Genet 69 1997 325 331
-
(1997)
Am J Med Genet
, vol.69
, pp. 325-331
-
-
Shaffer, L.G.1
Kennedy, G.M.2
Spliker, A.S.3
Lupski, J.R.4
-
5
-
-
0033775696
-
Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions
-
C. Ruiz-Ponte, L. Loidi, A. Vega, A. Carracedo, and F. Barros Rapid real-time fluorescent PCR gene dosage test for the diagnosis of DNA duplications and deletions Clin Chem 46 2000 1574 1582
-
(2000)
Clin Chem
, vol.46
, pp. 1574-1582
-
-
Ruiz-Ponte, C.1
Loidi, L.2
Vega, A.3
Carracedo, A.4
Barros, F.5
-
6
-
-
0031950166
-
Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR
-
R.A. Poropat, and G.A. Nicholson Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR Clin Chem 44 1998 724 730
-
(1998)
Clin Chem
, vol.44
, pp. 724-730
-
-
Poropat, R.A.1
Nicholson, G.A.2
-
7
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
S.A. Miller, D.D. Dykes, and H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acid Res 16 1988 1215
-
(1988)
Nucleic Acid Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
8
-
-
0031950166
-
Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR
-
R.A. Poropat, and G.A. Nicholson Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR Clin Chem 44 1998 724 730
-
(1998)
Clin Chem
, vol.44
, pp. 724-730
-
-
Poropat, R.A.1
Nicholson, G.A.2
-
9
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
J.R. Lupski, R. de Oca-Luna, M. Slaugenhaupt, S. Pentao, L. Guzzetta, and V. Trask DNA duplication associated with Charcot-Marie-Tooth disease type 1A Cell 66 1991 219 232
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
De Oca-Luna, R.2
Slaugenhaupt, M.3
Pentao, S.4
Guzzetta, L.5
Trask, V.6
-
10
-
-
0035046886
-
New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis
-
J.L. Badano, K. Inoue, N. Katsanis, and J.R. Lupski New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis Clin Chem 47 2001 838 843
-
(2001)
Clin Chem
, vol.47
, pp. 838-843
-
-
Badano, J.L.1
Inoue, K.2
Katsanis, N.3
Lupski, J.R.4
-
11
-
-
0035969957
-
Determination of loss of heterozygosity in frozen and paraffin embedded tumors by denaturating high-performance liquid chromatography (DHPLC)
-
E. Kleymenova, and C.L. Walker Determination of loss of heterozygosity in frozen and paraffin embedded tumors by denaturating high-performance liquid chromatography (DHPLC) J Biochem Biophys Methods 47 2001 83 90
-
(2001)
J Biochem Biophys Methods
, vol.47
, pp. 83-90
-
-
Kleymenova, E.1
Walker, C.L.2
-
12
-
-
0037613837
-
A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography
-
R. Mazzei, F.L. Conforti, M. Muglia, T. Sprovieri, A. Patitucci, and A. Magariello A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography J Child Neurol 18 2003 269 271
-
(2003)
J Child Neurol
, vol.18
, pp. 269-271
-
-
Mazzei, R.1
Conforti, F.L.2
Muglia, M.3
Sprovieri, T.4
Patitucci, A.5
Magariello, A.6
-
13
-
-
0037299356
-
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP
-
C.T. Thiel, C. Kraus, A. Rauch, A.B. Ekici, B. Rautenstrauss, and A. Reis A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP Eur J Hum Genet 11 2003 170 178
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 170-178
-
-
Thiel, C.T.1
Kraus, C.2
Rauch, A.3
Ekici, A.B.4
Rautenstrauss, B.5
Reis, A.6
-
14
-
-
22044445112
-
Detection of genomic rearrangements by DHPLC: A prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements
-
M. Naimi, S. Tardieu, C. Depienne, M. Ruberg, A. Brice, and O. Dubourg Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements Am J Med Genet A 136 2005 136 139
-
(2005)
Am J Med Genet a
, vol.136
, pp. 136-139
-
-
Naimi, M.1
Tardieu, S.2
Depienne, C.3
Ruberg, M.4
Brice, A.5
Dubourg, O.6
-
15
-
-
19544363209
-
Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: Application to RB1 gene
-
C. Dehainault, A. Lauge, V. Caux-Moncoutier, S. Pages-Berhouet, F. Doz, and L. Desjardins Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene Nucleic Acid Res 32 2004 e139
-
(2004)
Nucleic Acid Res
, vol.32
, pp. 139
-
-
Dehainault, C.1
Lauge, A.2
Caux-Moncoutier, V.3
Pages-Berhouet, S.4
Doz, F.5
Desjardins, L.6
-
16
-
-
21044456460
-
Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrier-screening test
-
Y. Su, N. Hung, C. Li, H. Lee, C.N. Cheng, and W.F. Tsao Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test Hum Mutat 25 2005 460 467
-
(2005)
Hum Mutat
, vol.25
, pp. 460-467
-
-
Su, Y.1
Hung, N.2
Li, C.3
Lee, H.4
Cheng, C.N.5
Tsao, W.F.6
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