-
1
-
-
0033005549
-
Spinal muscular atrophy
-
Talbot K. Spinal muscular atrophy. J Inherited Metab Dis 1999 22 : 545 554.
-
(1999)
J Inherited Metab Dis
, vol.22
, pp. 545-554
-
-
Talbot, K.1
-
2
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
-
Review.
-
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 : 228 237. Review.
-
(2000)
Hum Mutat
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
3
-
-
0036449356
-
Implementation of SMA carrier testing in genetic laboratories: Comparison of two methods for quantifying the SMN1 gene
-
Cusco I, Barcelo MJ, Baiget M, Tizzano EF. Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene. Hum Mutat 2002 20 : 452 459.
-
(2002)
Hum Mutat
, vol.20
, pp. 452-459
-
-
Cusco, I.1
Barcelo, M.J.2
Baiget, M.3
Tizzano, E.F.4
-
4
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time Light Cycler 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 Light Cycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002 70 : 358 368.
-
(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
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988 16 : 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
6
-
-
12144277279
-
Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR
-
Lee TM, Kim SW, Lee KS, et al. Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR. J Korean Med Sci 2004 19 : 870 873.
-
(2004)
J Korean Med Sci
, vol.19
, pp. 870-873
-
-
Lee, T.M.1
Kim, S.W.2
Lee, K.S.3
-
8
-
-
33847629306
-
Is consanguineous marriage religiously encouraged? Islamic and Iranian considerations
-
Akrami SM, Osati Z. Is consanguineous marriage religiously encouraged? Islamic and Iranian considerations J Biosoc Sci 2007 39 : 313 316.
-
(2007)
J Biosoc Sci
, vol.39
, pp. 313-316
-
-
Akrami, S.M.1
Osati, Z.2
-
9
-
-
0034852845
-
The beta-thalassemia mutation spectrum in the Iranian population
-
Najmabadi H, Karimi-Nejad R, Sahebjam S, et al. The beta-thalassemia mutation spectrum in the Iranian population. Hemoglobin 2001 25 : 285 296.
-
(2001)
Hemoglobin
, vol.25
, pp. 285-296
-
-
Najmabadi, H.1
Karimi-Nejad, R.2
Sahebjam, S.3
-
10
-
-
0018238065
-
Incidence, prevalence and gene frequency studies of chronic childhood spinal muscular atrophy
-
Pearn J. Incidence, prevalence and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978 15 : 409 413.
-
(1978)
J Med Genet
, vol.15
, pp. 409-413
-
-
Pearn, J.1
-
12
-
-
0026574419
-
Epidemiology of spinal muscular atrophies in a sample of the Italian population
-
Mostacciuolo ML, Danieli GA, Trevisan C, Muller E, Angelini C. Epidemiology of spinal muscular atrophies in a sample of the Italian population. Neuroepidemiology 1992 11 : 34 38.
-
(1992)
Neuroepidemiology
, vol.11
, pp. 34-38
-
-
Mostacciuolo, M.L.1
Danieli, G.A.2
Trevisan, C.3
Muller, E.4
Angelini, C.5
-
13
-
-
0036368287
-
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
-
Mailman MD, Heinz JW, Papp AC, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002 4 : 20 26.
-
(2002)
Genet Med
, vol.4
, pp. 20-26
-
-
Mailman, M.D.1
Heinz, J.W.2
Papp, A.C.3
-
14
-
-
0027175977
-
Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thuringen)
-
Thieme A, Mitulla B, Schulze F, Spiegler AW. Epidemiological data on Werdnig-Hoffmann disease in Germany (West-Thuringen). Hum Genet 1993 91 : 295 297.
-
(1993)
Hum Genet
, vol.91
, pp. 295-297
-
-
Thieme, A.1
Mitulla, B.2
Schulze, F.3
Spiegler, A.W.4
-
15
-
-
34547623065
-
A pilot study of spinal muscular atrophy carrier screening in Saudi Arabia
-
Mohammed AJ, Ramanath M, Zahra R, Saad AR, Wafaa E. A pilot study of spinal muscular atrophy carrier screening in Saudi Arabia. J Pediatr Neurol 2007 3 : 221 224.
-
(2007)
J Pediatr Neurol
, vol.3
, pp. 221-224
-
-
Mohammed, A.J.1
Ramanath, M.2
Zahra, R.3
Saad, A.R.4
Wafaa, E.5
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