-
1
-
-
0036482617
-
Spinal muscular atrophy genetic testing experience at an academic medical center
-
Ogino S., Leonard G.B.D., Rennert H., and Wilson B.R. Spinal muscular atrophy genetic testing experience at an academic medical center. J Mol Diagn 4 (2002) 53-58
-
(2002)
J Mol Diagn
, vol.4
, pp. 53-58
-
-
Ogino, S.1
Leonard, G.B.D.2
Rennert, H.3
Wilson, B.R.4
-
2
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S., Bürglen L., Reboullet S., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80 (1995) 155-165
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Bürglen, L.2
Reboullet, S.3
-
3
-
-
0028922174
-
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
-
Van der Steege G., Grootscholten P.M., Van der Vlies P., et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345 (1995) 985-986
-
(1995)
Lancet
, vol.345
, pp. 985-986
-
-
Van der Steege, G.1
Grootscholten, P.M.2
Van der Vlies, P.3
-
4
-
-
0034924057
-
Allele-specific amplification for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy
-
Moutou C., Gardes N., Rongieres C., et al. Allele-specific amplification for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy. Prenat Diagn 21 (2001) 498-503
-
(2001)
Prenat Diagn
, vol.21
, pp. 498-503
-
-
Moutou, C.1
Gardes, N.2
Rongieres, C.3
-
5
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten P.J., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., and Pais G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30 (2002) 1-13
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 1-13
-
-
Schouten, P.J.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pais, G.6
-
6
-
-
0032471510
-
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number
-
Parsons D.W., McAndrew P.E., Iannaccone S.T., Mendell J.R., Burghe A.H.M., and Prior T.W. Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet 63 (1998) 1712-1723
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1712-1723
-
-
Parsons, D.W.1
McAndrew, P.E.2
Iannaccone, S.T.3
Mendell, J.R.4
Burghe, A.H.M.5
Prior, T.W.6
-
7
-
-
0345280788
-
Prenatal prediction of spinal muscular atrophy in Chinese
-
Lin S.P., Chang J.G., Jong Y.J., et al. Prenatal prediction of spinal muscular atrophy in Chinese. Prenat Diagn 19 (1999) 657-661
-
(1999)
Prenat Diagn
, vol.19
, pp. 657-661
-
-
Lin, S.P.1
Chang, J.G.2
Jong, Y.J.3
-
8
-
-
18444384786
-
Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families
-
Savas S., Eraslan S., Kantarci S., et al. Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families. Prenat diagn 22 (2002) 703-709
-
(2002)
Prenat diagn
, vol.22
, pp. 703-709
-
-
Savas, S.1
Eraslan, S.2
Kantarci, S.3
-
9
-
-
33845232467
-
Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy
-
Arkblad E.L., Darin N., Berg K., et al. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul Disord 16 12 (2006) 830-838
-
(2006)
Neuromuscul Disord
, vol.16
, Issue.12
, pp. 830-838
-
-
Arkblad, E.L.1
Darin, N.2
Berg, K.3
-
10
-
-
33750069739
-
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification
-
Scarciolla O., Stuppia L., De Angelis M.V., et al. Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification. Neurogenetics 7 4 (2006) 269-276
-
(2006)
Neurogenetics
, vol.7
, Issue.4
, pp. 269-276
-
-
Scarciolla, O.1
Stuppia, L.2
De Angelis, M.V.3
-
11
-
-
20344366588
-
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
-
Gatta V., Scarciolla O., Gaspari A.R., et al. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet 117 (2005) 92-98
-
(2005)
Hum Genet
, vol.117
, pp. 92-98
-
-
Gatta, V.1
Scarciolla, O.2
Gaspari, A.R.3
-
12
-
-
1042266546
-
Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy
-
Xu R., Ogino S., Lip V., Fang H., and Wu B.L. Comparison of PCR-RFLP with allele-specific PCR in genetic testing for spinal muscular atrophy. Genet test 7 (2003) 277-281
-
(2003)
Genet test
, vol.7
, pp. 277-281
-
-
Xu, R.1
Ogino, S.2
Lip, V.3
Fang, H.4
Wu, B.L.5
-
13
-
-
0024605518
-
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
-
Newton C.R., Graham A., Heptinstall L.E., et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17 (1989) 2503-2516
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 2503-2516
-
-
Newton, C.R.1
Graham, A.2
Heptinstall, L.E.3
-
14
-
-
34548107284
-
Molecular diagnosis of spinal muscular atrophy by amplification refractory mutation system
-
Zeng J., Huang L.H., Zheng D.Z., et al. Molecular diagnosis of spinal muscular atrophy by amplification refractory mutation system. Chinese J of Lab Med 30 (2007) 304-305
-
(2007)
Chinese J of Lab Med
, vol.30
, pp. 304-305
-
-
Zeng, J.1
Huang, L.H.2
Zheng, D.Z.3
-
15
-
-
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 15 (2000) 228-237
-
(2000)
Hum Mutat
, vol.15
, pp. 228-237
-
-
Wirth, B.1
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