-
1
-
-
0036482617
-
Spinal muscular atrophy genetic testing experience at an Academic Medical Center
-
Ogino S, Leonard CBD, Rennert H, et al. Spinal muscular atrophy genetic testing experience at an academic medical center[J]. J Mol Diagn, 2002, 4(1): 53-58. (Pubitemid 44698436)
-
(2002)
Journal of Molecular Diagnostics
, vol.4
, Issue.1
, pp. 53-58
-
-
Ogino, S.1
Leonard, D.G.B.2
Rennert, H.3
Wilson, R.B.4
-
2
-
-
0028797783
-
Identification and characterization of spinal muscular atrophy determining gene
-
J
-
Lefebvre S, B rglen L, Reboullet S, et al. Identification and characterization of spinal muscular atrophy determining gene[J]. Cell, 1995, 80(1): 155-165.
-
(1995)
Cell
, vol.80
, Issue.1
, pp. 155-165
-
-
Lefebvre, S.1
Brglen, L.2
Reboullet, S.3
-
3
-
-
0031686467
-
The role of SMN gene in proximal spinal muscular atrophy
-
J
-
Lefebvre S, Bürglen L, Frezal J, et al. The role of SMN gene in proximal spinal muscular atrophy[J]. Hum Mol Genet, 1998, 7 (10): 1531-1536.
-
(1998)
Hum Mol Genet
, vol.7
, Issue.10
, pp. 1531-1536
-
-
Lefebvre, S.1
Bürglen, L.2
Frezal, J.3
-
4
-
-
0028922174
-
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
-
J
-
van der Steege G, Grootscholten PM, van der Vlies P, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy[J]. Lancet, 1995, 345 (8955): 985-986.
-
(1995)
Lancet
, vol.345
, Issue.8955
, pp. 985-986
-
-
Van Der Steege, G.1
Grootscholten, P.M.2
Van Der Vlies, P.3
-
5
-
-
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
-
J
-
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[J]. Am J Hum Genet, 1999, 64(5): 1340-1356.
-
(1999)
Am J Hum Genet
, vol.64
, Issue.5
, pp. 1340-1356
-
-
Wirth, B.1
Herz, M.2
Wetter, A.3
-
6
-
-
0026556253
-
Prenatal prediction of spinal muscular atrophy
-
J
-
Daniels RJ, Suthers GK, Morrison KE, et al. Prenatal prediction of spinal muscular atrophy[J]. J Med Genet, 1992, 29(3): 165-170.
-
(1992)
J Med Genet
, vol.29
, Issue.3
, pp. 165-170
-
-
Daniels, R.J.1
Suthers, G.K.2
Morrison, K.E.3
-
7
-
-
0027176513
-
Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)
-
J
-
Morrison KE, Daniels RJ, Suthers GK, et al. Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)[J]. Hum Genet, 1993, 92(2): 133-138.
-
(1993)
Hum Genet
, vol.92
, Issue.2
, pp. 133-138
-
-
Morrison, K.E.1
Daniels, R.J.2
Suthers, G.K.3
-
8
-
-
0028345521
-
Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11. 2-q13.3
-
J
-
Wirth B, Pick E, Leutner A, et al. Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11. 2-q13.3[J]. Genomics, 1994, 20(1): 84-93.
-
(1994)
Genomics
, vol.20
, Issue.1
, pp. 84-93
-
-
Wirth, B.1
Pick, E.2
Leutner, A.3
-
9
-
-
0028057856
-
Linkage mapping of the spinal muscular atrophy gene
-
J
-
Burghes AH, Ingraham SE, Kóte-Jarai Z, et al. Linkage mapping of the spinal muscular atrophy gene[J]. Hum Genet, 1994, 93(3): 305-312.
-
(1994)
Hum Genet
, vol.93
, Issue.3
, pp. 305-312
-
-
Burghes, A.H.1
Ingraham, S.E.2
Kóte-Jarai, Z.3
-
10
-
-
0028258401
-
Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis
-
J
-
Brahe C, Velonà I, van der Steege G, et al. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis[J]. Hum Genet, 1994, 93(5): 494-501.
-
(1994)
Hum Genet
, vol.93
, Issue.5
, pp. 494-501
-
-
Brahe, C.1
Velonà, I.2
Van Der Steege, G.3
-
11
-
-
0028831592
-
Refinement of the spinal muscular atrophy locus by genetic and physical mapping
-
J
-
Wang CH, Kleyn PW, Vitale E, et al. Refinement of the spinal muscular atrophy locus by genetic and physical mapping[J]. Am J Hum Genet, 1995, 56(1): 202-209.
-
(1995)
Am J Hum Genet
, vol.56
, Issue.1
, pp. 202-209
-
-
Wang, C.H.1
Kleyn, P.W.2
Vitale, E.3
-
12
-
-
77955960584
-
-
Chinese source
-
-
-
-
13
-
-
77955929853
-
-
Chinese source
-
-
-
-
14
-
-
77955959528
-
-
Chinese source
-
-
-
-
15
-
-
77955953341
-
-
Chinese source
-
-
-
-
16
-
-
0028184174
-
High resolution of human evolutionary trees with polymorphic microsatellites
-
J
-
Bowcock AM, Ruiz-Linares A, Tomfohrde J, et al. High resolution of human evolutionary trees with polymorphic microsatellites[J]. Nature, 1994, 368(6470): 455-457.
-
(1994)
Nature
, vol.368
, Issue.6470
, pp. 455-457
-
-
Bowcock, A.M.1
Ruiz-Linares, A.2
Tomfohrde, J.3
-
17
-
-
0028854328
-
Population genetics of dinucleotide (dC-dA)n. (dG-dT)n polymorphisms in world populations
-
J
-
Deka R, Jin L, Shriver MD, et al. Population genetics of dinucleotide (dC-dA)n. (dG-dT)n polymorphisms in world populations[J]. Am J Hum Genet, 1995, 56(2): 461-474.
-
(1995)
Am J Hum Genet
, vol.56
, Issue.2
, pp. 461-474
-
-
Deka, R.1
Jin, L.2
Shriver, M.D.3
-
18
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5264 microsatellites
-
J
-
Dib C, Fauré S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5264 microsatellites[J]. Nature, 1996, 380(6570): 152-154.
-
(1996)
Nature
, vol.380
, Issue.6570
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
-
19
-
-
0018147653
-
Estimation of average heterozygosity and genetic distance from a small number of individuals
-
J
-
Nei M. Estimation of average heterozygosity and genetic distance from a small number of individuals[J]. Genetics, 1978, 89(3): 583-590.
-
(1978)
Genetics
, vol.89
, Issue.3
, pp. 583-590
-
-
Nei, M.1
-
20
-
-
0019302053
-
Construction of a genetic linkage map in man using restriction fragment length polymorphisms
-
J
-
Botstein D, White RL, Skolnick M, et al. Construction of a genetic linkage map in man using restriction fragment length polymorphisms [J]. Am J Hum Genet, 1980, 32(3): 314-331.
-
(1980)
Am J Hum Genet
, vol.32
, Issue.3
, pp. 314-331
-
-
Botstein, D.1
White, R.L.2
Skolnick, M.3
-
21
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
-
DOI 10.1038/344540a0
-
Brzustowicz LM, Lehner T, Cattilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3[J]. Nature, 1990, 344(6266): 540-541. (Pubitemid 20124429)
-
(1990)
Nature
, vol.344
, Issue.6266
, pp. 540-541
-
-
Brzustowicz, L.M.1
Lehner, T.2
Castilla, L.H.3
Penchaszadeh, G.K.4
Wilhelmsen, K.C.5
Daniels, R.6
Davies, K.E.7
Leppert, M.8
Ziter, F.9
Wood, D.10
Dubowitz, V.11
Zerres, K.12
Hausmanowa-Petrusewicz, I.13
Ott, J.14
Munsat, T.L.15
Gilliam, T.C.16
|