-
1
-
-
0028258401
-
Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis
-
Brahe C, Velona I, van der Steege G, Zappata S, van de Veen AY, Osinga J, Tops CMJ, et al (1994) Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis. Hum Genet 93:494-501
-
(1994)
Hum Genet
, vol.93
, pp. 494-501
-
-
Brahe, C.1
Velona, I.2
Van Der Steege, G.3
Zappata, S.4
Van De Veen, A.Y.5
Osinga, J.6
Tops, C.M.J.7
-
2
-
-
0028332421
-
A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene
-
Burghes AHM, Ingraham SE, McLean M, Thompson TG, McPhearson D, Kote-Jarai Z, Carpenten JD, et al (1994) A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene. Genomics 21:394-402
-
(1994)
Genomics
, vol.21
, pp. 394-402
-
-
Burghes, A.H.M.1
Ingraham, S.E.2
McLean, M.3
Thompson, T.G.4
McPhearson, D.5
Kote-Jarai, Z.6
Carpenten, J.D.7
-
3
-
-
0343267780
-
Structure and organization of the human survival motor neuron (SMN) gene
-
Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, et al (1996) Structure and organization of the human survival motor neuron (SMN) gene. Genomics 32:479-482
-
(1996)
Genomics
, vol.32
, pp. 479-482
-
-
Bürglen, L.1
Lefebvre, S.2
Clermont, O.3
Burlet, P.4
Viollet, L.5
Cruaud, C.6
Munnich, A.7
-
4
-
-
0028842926
-
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
-
Bussaglia E, Clermont O, Tizzano E, Lefevbre S, Bürglen L, Cruaud C, Urtizberea JA, et al (1995) A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 11:335-337
-
(1995)
Nat Genet
, vol.11
, pp. 335-337
-
-
Bussaglia, E.1
Clermont, O.2
Tizzano, E.3
Lefevbre, S.4
Bürglen, L.5
Cruaud, C.6
Urtizberea, J.A.7
-
5
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
-
Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143-151
-
(1993)
Cell
, vol.72
, pp. 143-151
-
-
Chance, P.F.1
Alderson, M.K.2
Leppig, K.A.3
Lensch, M.W.4
Matsunami, N.5
Smith, B.6
Swanson, P.D.7
-
6
-
-
0028863567
-
Molecular basis of spinal muscular atrophy in Chinese
-
Chang J-G, Jong Y-J, Huang J-M, Wang W-S, Yang T-Y, Chang C-P, Chen Y-J, et al (1995) Molecular basis of spinal muscular atrophy in Chinese. Am J Hum Genet 57:1503-1505
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1503-1505
-
-
Chang, J.-G.1
Jong, Y.-J.2
Huang, J.-M.3
Wang, W.-S.4
Yang, T.-Y.5
Chang, C.-P.6
Chen, Y.-J.7
-
7
-
-
0029143853
-
Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy
-
Cobben JM, van der Steege G, Grootscholten P, de Visser M, Scheffer H, Buys CHCM (1995) Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 57:805-808
-
(1995)
Am J Hum Genet
, vol.57
, pp. 805-808
-
-
Cobben, J.M.1
Van Der Steege, G.2
Grootscholten, P.3
De Visser, M.4
Scheffer, H.5
Buys, C.H.C.M.6
-
8
-
-
0028171819
-
Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy
-
DiDonato CJ, Morgan K, Carpten JD, Fuerst P, Ingraham SE, Prescott G, McPherson JD, et al (1994) Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy. Am J Hum Genet 55:1218-1229
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1218-1229
-
-
DiDonato, C.J.1
Morgan, K.2
Carpten, J.D.3
Fuerst, P.4
Ingraham, S.E.5
Prescott, G.6
McPherson, J.D.7
-
9
-
-
0024435039
-
Molecular aspects of heavy-chain class switching
-
Gritzmacher CA (1989) Molecular aspects of heavy-chain class switching. Crit Rev Immunol 9:173-200
-
(1989)
Crit Rev Immunol
, vol.9
, pp. 173-200
-
-
Gritzmacher, C.A.1
-
10
-
-
0028785098
-
Molecular analysis of SMA candidate genes (SMN and NAIP) in autosomal recessive spinal muscular atrophy on 5q13: Evidence of deletions in the SMN gene in unaffected individuals
-
Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Zerres K, Wirth B (1995) Molecular analysis of SMA candidate genes (SMN and NAIP) in autosomal recessive spinal muscular atrophy on 5q13: evidence of deletions in the SMN gene in unaffected individuals. Hum Mol Genet 4:1927-1933
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1927-1933
-
-
Hahnen, E.1
Forkert, R.2
Marke, C.3
Rudnik-Schöneborn, S.4
Zerres, K.5
Wirth, B.6
-
11
-
-
0029944982
-
Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): A further possibility to distinguish the two copies of the gene
-
Hahnen E, Wirth B (1996) Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility to distinguish the two copies of the gene. Hum Genet 98:122-123
-
(1996)
Hum Genet
, vol.98
, pp. 122-123
-
-
Hahnen, E.1
Wirth, B.2
-
12
-
-
0029117950
-
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: Association of marker genotype to disease severity and candidate cDNAs
-
Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schöneborn S, Simard LR, et al (1995a) Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype to disease severity and candidate cDNAs. Hum Mol Genet 4:1273-1284
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1273-1284
-
-
Wirth, B.1
Hahnen, E.2
Morgan, K.3
DiDonato, C.J.4
Dadze, A.5
Rudnik-Schöneborn, S.6
Simard, L.R.7
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