-
2
-
-
0028904953
-
Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications
-
Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52:518-23.
-
(1995)
Arch Neurol
, vol.52
, pp. 518-523
-
-
Zerres, K.1
Rudnik-Schoneborn, S.2
-
3
-
-
0037387885
-
Prevalence of SMN1 deletion and duplication in carrier and normal populations: Implication for genetic counselling
-
Cusin V, Clermont O, Gerard B, Chantereau D, Elion J. Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J Med Genet. 2003;40:e39.
-
(2003)
J Med Genet
, vol.40
-
-
Cusin, V.1
Clermont, O.2
Gerard, B.3
Chantereau, D.4
Elion, J.5
-
4
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet. 2002;70:358-68.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 358-368
-
-
Feldkotter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
5
-
-
0036942226
-
Genetic testing and risk assessment for spinal muscular atrophy (SMA)
-
Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet. 2002;111:477-500.
-
(2002)
Hum Genet
, vol.111
, pp. 477-500
-
-
Ogino, S.1
Wilson, R.B.2
-
6
-
-
0034869225
-
Best practice guidelines for molecular analysis in spinal muscular atrophy
-
Scheffer H, Cobben JM, Matthijs G, Wirth B. Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur J Hum Genet. 2001;9:484-91.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 484-491
-
-
Scheffer, H.1
Cobben, J.M.2
Matthijs, G.3
Wirth, B.4
-
7
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
-
Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat. 2000;15:228-37.
-
(2000)
Hum Mutat
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
8
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80:155-65.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
-
9
-
-
0033358719
-
Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
-
Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schoneborn S. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet. 1999;64:1340-56.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1340-1356
-
-
Wirth, B.1
Herz, M.2
Wetter, A.3
Moskau, S.4
Hahnen, E.5
Rudnik-Schoneborn, S.6
-
10
-
-
0028922174
-
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
-
van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet. 1995;345:985-6.
-
(1995)
Lancet
, vol.345
, pp. 985-986
-
-
van der Steege, G.1
Grootscholten, P.M.2
van der Vlies, P.3
Draaijers, T.G.4
Osinga, J.5
Cobben, J.M.6
-
12
-
-
0033609804
-
Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy
-
Chen KL, Wang YL, Rennert H, Joshi I, Mills JK, Leonard DG, et al. Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy. Am J Med Genet. 1999;85:463-9.
-
(1999)
Am J Med Genet
, vol.85
, pp. 463-469
-
-
Chen, K.L.1
Wang, Y.L.2
Rennert, H.3
Joshi, I.4
Mills, J.K.5
Leonard, D.G.6
-
13
-
-
0030985898
-
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
-
McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet. 1997;60:1411-22.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1411-1422
-
-
McAndrew, P.E.1
Parsons, D.W.2
Simard, L.R.3
Rochette, C.4
Ray, P.N.5
Mendell, J.R.6
-
14
-
-
0034026614
-
SMA carrier testing - validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion
-
Scheffer H, Cobben JM, Mensink RG, Stulp RP, van der Steege G, Buys CH. SMA carrier testing - validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion. Eur J Hum Genet. 2000;8:79-86.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 79-86
-
-
Scheffer, H.1
Cobben, J.M.2
Mensink, R.G.3
Stulp, R.P.4
van der Steege, G.5
Buys, C.H.6
-
15
-
-
27544510166
-
Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: Application to the SMN1/SMN2 gene
-
Hung CC, Lee CN, Chen CP, Jong YJ, Chen CA, Cheng WF. Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: application to the SMN1/SMN2 gene. Anal Chem. 2005;77:6960-8.
-
(2005)
Anal Chem
, vol.77
, pp. 6960-6968
-
-
Hung, C.C.1
Lee, C.N.2
Chen, C.P.3
Jong, Y.J.4
Chen, C.A.5
Cheng, W.F.6
-
16
-
-
33644505172
-
Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDITOF mass spectrometry
-
Kao HY, Su YN, Liao HK, Liu MS, Chen YJ. Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDITOF mass spectrometry. Clin Chem. 2006;52:361-9.
-
(2006)
Clin Chem
, vol.52
, pp. 361-369
-
-
Kao, H.Y.1
Su, Y.N.2
Liao, H.K.3
Liu, M.S.4
Chen, Y.J.5
-
17
-
-
21044456460
-
Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrier-screening test
-
Su YN, Hung CC, Li H, Lee CN, Cheng WF, Tsao PN. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. Hum Mutat. 2005;25:460-7.
-
(2005)
Hum Mutat
, vol.25
, pp. 460-467
-
-
Su, Y.N.1
Hung, C.C.2
Li, H.3
Lee, C.N.4
Cheng, W.F.5
Tsao, P.N.6
-
18
-
-
0346502172
-
Spinal muscular atrophy: Molecular genetics and diagnostics
-
Ogino S, Wilson RB. Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn. 2004;4:15-29.
-
(2004)
Expert Rev Mol Diagn
, vol.4
, pp. 15-29
-
-
Ogino, S.1
Wilson, R.B.2
-
19
-
-
0037613837
-
A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography
-
Mazzei R, Conforti FL, Muglia M, Sprovieri T, Patitucci A, Magariello A, et al. A simple method for diagnosis of autosomal recessive spinal muscular atrophy by denaturing high-performance liquid chromatography. J Child Neurol. 2003;18:269-71.
-
(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
-
20
-
-
0037159477
-
Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy
-
Sutomo R, Akutsu T, Takeshima Y, Nishio H, Sadewa AH, Harada Y. Rapid SMN1 deletion test using DHPLC to screen patients with spinal muscular atrophy. Am J Med Genet. 2002;113:225-6.
-
(2002)
Am J Med Genet
, vol.113
, pp. 225-226
-
-
Sutomo, R.1
Akutsu, T.2
Takeshima, Y.3
Nishio, H.4
Sadewa, A.H.5
Harada, Y.6
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