-
1
-
-
45249106162
-
Spinal muscular atrophy
-
Lunn MR, Wang CH. Spinal muscular atrophy. Lancet 2008;371(9630):2120-33.
-
(2008)
Lancet
, vol.371
, Issue.9630
, pp. 2120-2133
-
-
Lunn, M.R.1
Wang, C.H.2
-
2
-
-
69749083429
-
Differences in SMN1 allele frequencies among ethnic groups within North America
-
Hendrickson BC, Donohoe C, Akmaev VR, et al. Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet 2009;46(9):641-4.
-
(2009)
J Med Genet
, vol.46
, Issue.9
, pp. 641-644
-
-
Hendrickson, B.C.1
Donohoe, C.2
Akmaev, V.R.3
-
3
-
-
83255187319
-
Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens
-
Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72, 400 specimens. Eur J Hum Genet 2012;20(1):27-32.
-
(2012)
Eur J Hum Genet
, vol.20
, Issue.1
, pp. 27-32
-
-
Sugarman, E.A.1
Nagan, N.2
Zhu, H.3
-
4
-
-
78651109303
-
Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology
-
Muralidharan K, Wilson RB, Ogino S, et al. Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology. J Mol Diagn 2011;13(1):3-6.
-
(2011)
J Mol Diagn
, vol.13
, Issue.1
, pp. 3-6
-
-
Muralidharan, K.1
Wilson, R.B.2
Ogino, S.3
-
5
-
-
66149090002
-
ACOG committee opinion No. 432: spinal muscular atrophy
-
ACOG Committee on Genetics. ACOG committee opinion No. 432: spinal muscular atrophy. Obstet Gynecol 2009;113(5):1194-6.
-
(2009)
Obstet Gynecol
, vol.113
, Issue.5
, pp. 1194-1196
-
-
-
6
-
-
57449107362
-
Carrier screening for spinal muscular atrophy
-
Prior TW, Professional Practice and Guidelines Committee. Carrier screening for spinal muscular atrophy. Genet Med 2008;10(11):840-2.
-
(2008)
Genet Med
, vol.10
, Issue.11
, pp. 840-842
-
-
Prior, T.W.1
-
7
-
-
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, et al. 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(5):1340-56.
-
(1999)
Am J Hum Genet
, vol.64
, Issue.5
, pp. 1340-1356
-
-
Wirth, B.1
Herz, M.2
Wetter, A.3
-
8
-
-
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(1):20-6.
-
(2002)
Genet Med
, vol.4
, Issue.1
, pp. 20-26
-
-
Mailman, M.D.1
Heinz, J.W.2
Papp, A.C.3
-
9
-
-
79960834390
-
Technical standards and guidelines for spinal muscular atrophy testing
-
Prior TW, Nagan N, Sugarman EA, et al. Technical standards and guidelines for spinal muscular atrophy testing. Genet Med 2011;13(7):686-94.
-
(2011)
Genet Med
, vol.13
, Issue.7
, pp. 686-694
-
-
Prior, T.W.1
Nagan, N.2
Sugarman, E.A.3
-
10
-
-
10044220623
-
New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations
-
Ogino S, Wilson RB, Gold B. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet 2004;12(12):1015-23.
-
(2004)
Eur J Hum Genet
, vol.12
, Issue.12
, pp. 1015-1023
-
-
Ogino, S.1
Wilson, R.B.2
Gold, B.3
-
11
-
-
84914106711
-
-
Available at [accessed on 1 July 2014].
-
R Core Team. 2013. Available at: http://www.R-project.org/ [accessed on 1 July 2014].
-
(2013)
-
-
-
12
-
-
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, et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 1997;60(6):1411-22.
-
(1997)
Am J Hum Genet
, vol.60
, Issue.6
, pp. 1411-1422
-
-
McAndrew, P.E.1
Parsons, D.W.2
Simard, L.R.3
-
13
-
-
0036482617
-
Spinal muscular atrophy genetic testing experience at an academic medical center
-
Ogino S, Leonard DG, Rennert H, Wilson RB. Spinal muscular atrophy genetic testing experience at an academic medical center. J Mol Diagn 2002;4(1):53-8.
-
(2002)
J Mol Diagn
, vol.4
, Issue.1
, pp. 53-58
-
-
Ogino, S.1
Leonard, D.G.2
Rennert, H.3
Wilson, R.B.4
-
14
-
-
0038723182
-
Determination of SMN1 and SMN2 copy number using TaqMan technology
-
Anhuf D, Eggermann T, Rudnik-Schoneborn S, Zerres K. Determination of SMN1 and SMN2 copy number using TaqMan technology. Hum Mutat 2003;22(1):74-8.
-
(2003)
Hum Mutat
, vol.22
, Issue.1
, pp. 74-78
-
-
Anhuf, D.1
Eggermann, T.2
Rudnik-Schoneborn, S.3
Zerres, K.4
-
15
-
-
0036156999
-
Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis
-
Corcia P, Mayeux-Portas V, Khoris J, et al. Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis. Ann Neurol 2002;51(2):243-6.
-
(2002)
Ann Neurol
, vol.51
, Issue.2
, pp. 243-246
-
-
Corcia, P.1
Mayeux-Portas, V.2
Khoris, J.3
-
16
-
-
0037387885
-
Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling
-
Cusin V, Clermont O, Gerard B, et al. Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J Med Genet 2003;40(4):e39.
-
(2003)
J Med Genet
, vol.40
, Issue.4
, pp. e39
-
-
Cusin, V.1
Clermont, O.2
Gerard, B.3
-
17
-
-
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, et al. 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(2):358-68.
-
(2002)
Am J Hum Genet
, vol.70
, Issue.2
, pp. 358-368
-
-
Feldkotter, M.1
Schwarzer, V.2
Wirth, R.3
-
18
-
-
4644336081
-
Carrier incidence for spinal muscular atrophy in southern Chinese
-
Chan V, Yip B, Yam I, et al. Carrier incidence for spinal muscular atrophy in southern Chinese. J Neurol 2004;251(9):1089-93.
-
(2004)
J Neurol
, vol.251
, Issue.9
, pp. 1089-1093
-
-
Chan, V.1
Yip, B.2
Yam, I.3
-
19
-
-
79952157125
-
Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study
-
Su YN, Hung CC, Lin SY, et al. Carrier screening for spinal muscular atrophy (SMA) in 107, 611 pregnant women during the period 2005-2009: a prospective population-based cohort study. PLoS One 2011;6(2):e17067.
-
(2011)
PLoS One
, vol.6
, Issue.2
, pp. e17067
-
-
Su, Y.N.1
Hung, C.C.2
Lin, S.Y.3
-
20
-
-
79951578660
-
Large-scale population screening for spinal muscular atrophy: clinical implications
-
Ben-Shachar S, Orr-Urtreger A, Bardugo E, et al. Large-scale population screening for spinal muscular atrophy: clinical implications. Genet Med 2011;13(2):110-4.
-
(2011)
Genet Med
, vol.13
, Issue.2
, pp. 110-114
-
-
Ben-Shachar, S.1
Orr-Urtreger, A.2
Bardugo, E.3
-
21
-
-
73449116062
-
Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population
-
Hasanzad M, Azad M, Kahrizi K, et al. Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population. Eur J Neurol 2010;17(1):160-2.
-
(2010)
Eur J Neurol
, vol.17
, Issue.1
, pp. 160-162
-
-
Hasanzad, M.1
Azad, M.2
Kahrizi, K.3
-
22
-
-
34250780551
-
Population screening and cascade testing for carriers of SMA
-
Smith M, Calabro V, Chong B, et al. Population screening and cascade testing for carriers of SMA. Eur J Hum Genet 2007;15(7):759-66.
-
(2007)
Eur J Hum Genet
, vol.15
, Issue.7
, pp. 759-766
-
-
Smith, M.1
Calabro, V.2
Chong, B.3
-
23
-
-
77952980593
-
Carrier screening for cystic fibrosis
-
Dungan JS. Carrier screening for cystic fibrosis. Obstet Gynecol Clin North Am 2010;37(1):47-59.
-
(2010)
Obstet Gynecol Clin North Am
, vol.37
, Issue.1
, pp. 47-59
-
-
Dungan, J.S.1
-
24
-
-
77649134088
-
The cost-effectiveness of prenatal screening for spinal muscular atrophy
-
253.e1-7
-
Little SE, Janakiraman V, Kaimal A, et al. The cost-effectiveness of prenatal screening for spinal muscular atrophy. Am J Obstet Gynecol 2010;202(3):253.e1-7.
-
(2010)
Am J Obstet Gynecol
, vol.202
, Issue.3
-
-
Little, S.E.1
Janakiraman, V.2
Kaimal, A.3
|