-
1
-
-
0029803986
-
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
-
Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G (1996) Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet 5: 1971-1976
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1971-1976
-
-
Brahe, C.1
Clermont, O.2
Zappata, S.3
Tiziano, F.4
Melki, J.5
Neri, G.6
-
2
-
-
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
-
3
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
-
Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, Davies KE, et al (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344:540-541
-
(1990)
Nature
, vol.344
, 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
-
4
-
-
0028057856
-
Linkage mapping of the spinal muscular atrophy gene
-
Burghes AHM, Ingraham SE, Kote-Jarai Z, Rosenfeld S, Herta N, Nadkarni N, DiDonato CJ, et al (1994a) Linkage mapping of the spinal muscular atrophy gene. Hum Genet 93: 305-312
-
(1994)
Hum Genet
, vol.93
, pp. 305-312
-
-
Burghes, A.H.M.1
Ingraham, S.E.2
Kote-Jarai, Z.3
Rosenfeld, S.4
Herta, N.5
Nadkarni, N.6
DiDonato, C.J.7
-
5
-
-
0028332421
-
A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene
-
Burghes AHM, Ingraham SE, McLean M, Thompson TG, McPherson JD, Kote-Jarai Z, Carpten JD, et al (1994b) 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
McPherson, J.D.5
Kote-Jarai, Z.6
Carpten, J.D.7
-
6
-
-
0343267780
-
Structure and organization of the human survival motor neurone (SMN) gene
-
Burglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, et al (1996) Structure and organization of the human survival motor neurone (SMN) gene. Genomics 32:479-482
-
(1996)
Genomics
, vol.32
, pp. 479-482
-
-
Burglen, L.1
Lefebvre, S.2
Clermont, O.3
Burlet, P.4
Viollet, L.5
Cruaud, C.6
Munnich, A.7
-
7
-
-
0028842926
-
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
-
Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Burglen 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
Lefebvre, S.4
Burglen, L.5
Cruaud, C.6
Urtizberea, J.A.7
-
8
-
-
0028606738
-
A YAC contig of the region containing the spinal muscular atrophy gene (SMA): Identification of an unstable region
-
Carpten JD, DiDonato CJ, Ingraham SE, Wagner-McPherson C, Nieuwenhuijsen BW, Wasmuth JJ, Burghes AHM (1994) A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region. Genomics 24:351-356
-
(1994)
Genomics
, vol.24
, pp. 351-356
-
-
Carpten, J.D.1
DiDonato, C.J.2
Ingraham, S.E.3
Wagner-McPherson, C.4
Nieuwenhuijsen, B.W.5
Wasmuth, J.J.6
Burghes, A.H.M.7
-
9
-
-
0028236064
-
Determination of gene dosage by a quantitative adaptation of the polymerase chain reaction (gd-PCR): Rapid detection of deletions and duplications of gene sequences
-
Celi FS, Cohen MM, Antonarakis SE, Wertheimer E, Roth J, Shuldiner AR (1994) Determination of gene dosage by a quantitative adaptation of the polymerase chain reaction (gd-PCR): rapid detection of deletions and duplications of gene sequences. Genomics 21:304-310
-
(1994)
Genomics
, vol.21
, pp. 304-310
-
-
Celi, F.S.1
Cohen, M.M.2
Antonarakis, S.E.3
Wertheimer, E.4
Roth, J.5
Shuldiner, A.R.6
-
10
-
-
0027163108
-
A rapid and versatile method to synthesize internal standards for competitive PCR
-
Celi FS, Zenilman ME, Shuldiner AR (1993) A rapid and versatile method to synthesize internal standards for competitive PCR. Nucleic Acids Res 21:1047
-
(1993)
Nucleic Acids Res
, vol.21
, pp. 1047
-
-
Celi, F.S.1
Zenilman, M.E.2
Shuldiner, A.R.3
-
11
-
-
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
-
12
-
-
0030896085
-
Cloning, characterization, and copy number of the murine survival motor neurone gene: Homolog of the spinal muscular atrophy-determining gene
-
DiDonato CJ, Chen X-N, Noya D, Korenberg JR, Nadeau JH, Simard LR (1997a) Cloning, characterization, and copy number of the murine survival motor neurone gene: homolog of the spinal muscular atrophy-determining gene. Genome Res 7:339-352
-
(1997)
Genome Res
, vol.7
, pp. 339-352
-
-
DiDonato, C.J.1
Chen, X.-N.2
Noya, D.3
Korenberg, J.R.4
Nadeau, J.H.5
Simard, L.R.6
-
13
-
-
0031059705
-
Deletions and conversion in spinal muscular atrophy patients: Is there a relationship to severity?
-
DiDonato CJ, Ingraham SE, Mendell JR, Prior TW, Lenard S, Moxley R, Florence J, et al (1997b) Deletions and conversion in spinal muscular atrophy patients: is there a relationship to severity? Ann Neurol 41:230-237
-
(1997)
Ann Neurol
, vol.41
, pp. 230-237
-
-
DiDonato, C.J.1
Ingraham, S.E.2
Mendell, J.R.3
Prior, T.W.4
Lenard, S.5
Moxley, R.6
Florence, J.7
-
14
-
-
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
-
15
-
-
0027161026
-
A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13
-
Francis MJ, Morrison KE, Campbell L, Grewal PK, Christodoulou Z, Daniels RJ, Monaco AP, et al (1993) A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13. Hum Mol Genet 2:1161-1167
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1161-1167
-
-
Francis, M.J.1
Morrison, K.E.2
Campbell, L.3
Grewal, P.K.4
Christodoulou, Z.5
Daniels, R.J.6
Monaco, A.P.7
-
16
-
-
0028785098
-
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence for homozygous deletions of the SMN gene in unaffected individuals
-
Hahnen E, Forkert R, Merke C, Rudnik-Schöneborn S, Schönling J, Zerres K, Wirth B (1995) Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence for homozygous deletions of 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
Merke, C.3
Rudnik-Schöneborn, S.4
Schönling, J.5
Zerres, K.6
Wirth, B.7
-
17
-
-
0030987818
-
Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)
-
Hahnen E, Schönling J, Rudnik-Schöneborn S, Raschke H, Zerres K, Wirth B (1997) Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum Mol Genet 6:821-825
-
(1997)
Hum Mol Genet
, vol.6
, pp. 821-825
-
-
Hahnen, E.1
Schönling, J.2
Rudnik-Schöneborn, S.3
Raschke, H.4
Zerres, K.5
Wirth, B.6
-
18
-
-
0029858451
-
Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: New insights into molecular mechanisms responsible for the disease
-
Hahnen E, Schönling J, Rudnik-Schöneborn S, Zerres K, Wirth B (1996) Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am J Hum Genet 59:1057-1065
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1057-1065
-
-
Hahnen, E.1
Schönling, J.2
Rudnik-Schöneborn, S.3
Zerres, K.4
Wirth, B.5
-
19
-
-
0027274633
-
Construction of a yeast artifical chromosome contig spanning the spinal muscular atrophy disease gene region
-
Kleyn PW, Wang CH, Lien LL, Vitale E, Pan J, Ross BM, Grunn A, et al (1993) Construction of a yeast artifical chromosome contig spanning the spinal muscular atrophy disease gene region. Proc Natl Acad Sci USA 90:6801-6805
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 6801-6805
-
-
Kleyn, P.W.1
Wang, C.H.2
Lien, L.L.3
Vitale, E.4
Pan, J.5
Ross, B.M.6
Grunn, A.7
-
20
-
-
0016751128
-
14C in polyacrylamide gels by fluorography
-
14C in polyacrylamide gels by fluorography. Eur J Biochem 56:335-341
-
(1975)
Eur J Biochem
, vol.56
, pp. 335-341
-
-
Laskey, R.A.1
Mills, A.D.2
-
21
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155-165
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
-
22
-
-
0029971161
-
Unusual molecular findings in autosomal recessive spinal muscular atrophy
-
Matthijs G, Schollen E, Legius E, Devriendt K, Goemans N, Kayserili H, Memnune YA, et al (1996) Unusual molecular findings in autosomal recessive spinal muscular atrophy. J Med Genet 33:469-474
-
(1996)
J Med Genet
, vol.33
, pp. 469-474
-
-
Matthijs, G.1
Schollen, E.2
Legius, E.3
Devriendt, K.4
Goemans, N.5
Kayserili, H.6
Memnune, Y.A.7
-
23
-
-
0025319713
-
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
-
Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, Aicardi J, et al (1990) Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 344: 767-768
-
(1990)
Nature
, vol.344
, pp. 767-768
-
-
Melki, J.1
Abdelhak, S.2
Sheth, P.3
Bachelot, M.F.4
Burlet, P.5
Marcadet, A.6
Aicardi, J.7
-
24
-
-
0028200804
-
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
-
Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, et al (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264:1474-1477
-
(1994)
Science
, vol.264
, pp. 1474-1477
-
-
Melki, J.1
Lefebvre, S.2
Burglen, L.3
Burlet, P.4
Clermont, O.5
Millasseau, P.6
Reboullet, S.7
-
25
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
26
-
-
0026684410
-
Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q
-
Müller B, Melki J, Burlet P, Clerget-Darpoux F (1992) Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q. Am J Hum Genet 50:892-895
-
(1992)
Am J Hum Genet
, vol.50
, pp. 892-895
-
-
Müller, B.1
Melki, J.2
Burlet, P.3
Clerget-Darpoux, F.4
-
27
-
-
0029827514
-
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: Further evidence for SMN as the primary SMA-determining gene
-
Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AHM, Prior TW (1996) An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet 5:1727-1732
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1727-1732
-
-
Parsons, D.W.1
McAndrew, P.E.2
Monani, U.R.3
Mendell, J.R.4
Burghes, A.H.M.5
Prior, T.W.6
-
28
-
-
0018906764
-
Classification of spinal muscular atrophies
-
Pearn J (1980) Classification of spinal muscular atrophies. Lancet 1:919-922
-
(1980)
Lancet
, vol.1
, pp. 919-922
-
-
Pearn, J.1
-
29
-
-
0028905919
-
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
-
Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE (1995) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4:631-634
-
(1995)
Hum Mol Genet
, vol.4
, pp. 631-634
-
-
Rodrigues, N.R.1
Owen, N.2
Talbot, K.3
Ignatius, J.4
Dubowitz, V.5
Davies, K.E.6
-
30
-
-
0028896092
-
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
-
Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, Baird S, et al (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80:167-178
-
(1995)
Cell
, vol.80
, pp. 167-178
-
-
Roy, N.1
Mahadevan, M.S.2
McLean, M.3
Shutler, G.4
Yaraghi, Z.5
Farahani, R.6
Baird, S.7
-
31
-
-
0028206815
-
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: Clinical picture, influence of gender, and genetic implications
-
Rudnik-Schöneborn S, Rohrig D, Morgan G, Wirth B, Zerres K (1994) Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: clinical picture, influence of gender, and genetic implications. Am J Med Genet 51:7-76
-
(1994)
Am J Med Genet
, vol.51
, pp. 7-76
-
-
Rudnik-Schöneborn, S.1
Rohrig, D.2
Morgan, G.3
Wirth, B.4
Zerres, K.5
-
32
-
-
0003903343
-
-
Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
-
Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2d ed. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
-
(1989)
Molecular Cloning: A Laboratory Manual, 2d Ed.
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
33
-
-
0031030666
-
Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy
-
Schwartz M, Sorensen N, Hansen FJ, Hertz JM, Norby S, Tranebjaerg L, Skovby F (1997) Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy. Hum Mol Genet 6:99-104
-
(1997)
Hum Mol Genet
, vol.6
, pp. 99-104
-
-
Schwartz, M.1
Sorensen, N.2
Hansen, F.J.3
Hertz, J.M.4
Norby, S.5
Tranebjaerg, L.6
Skovby, F.7
-
34
-
-
0028296152
-
Measuring c-erbB-2 oncogene amplification in fresh and paraffin-embedded tumors by competitive polymerase chain reaction
-
Sestini R, Orlando C, Zentilin L, Gelmini S, Pinzani P, Bianchi S, Selli C, et al (1994) Measuring c-erbB-2 oncogene amplification in fresh and paraffin-embedded tumors by competitive polymerase chain reaction. Clin Chem 40:630-636
-
(1994)
Clin Chem
, vol.40
, pp. 630-636
-
-
Sestini, R.1
Orlando, C.2
Zentilin, L.3
Gelmini, S.4
Pinzani, P.5
Bianchi, S.6
Selli, C.7
-
35
-
-
0029006657
-
Gene amplification for c-erbB-2, c-myc, epidermal growth factor receptor, int-2, and N-myc measured by quantitative PCR with a multiple competitor template
-
Sestini R, Orlando C, Zentilin L, Lami D, Gelmini S, Pinzani P, Giacca M, et al (1995) Gene amplification for c-erbB-2, c-myc, epidermal growth factor receptor, int-2, and N-myc measured by quantitative PCR with a multiple competitor template. Clin Chem 41:826-832
-
(1995)
Clin Chem
, vol.41
, pp. 826-832
-
-
Sestini, R.1
Orlando, C.2
Zentilin, L.3
Lami, D.4
Gelmini, S.5
Pinzani, P.6
Giacca, M.7
-
37
-
-
0026656706
-
Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): Confirmation of close linkage to D5S39 in French Canadian families
-
Simard LR, Vanasse M, Rochette C, Morgan K, Lemieux B, Melancon SB, Labuda D (1992) Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families. Genomics 14:188-190
-
(1992)
Genomics
, vol.14
, pp. 188-190
-
-
Simard, L.R.1
Vanasse, M.2
Rochette, C.3
Morgan, K.4
Lemieux, B.5
Melancon, S.B.6
Labuda, D.7
-
38
-
-
0031044279
-
Missense mutation clustering in the survival motor neuron gene: A role for a conserved trysine and glycine rich region of the protein in RNA metabolism?
-
Talbot K, Ponting CP, Theodosiou AM, Rodriques NR, Surtees R, Mountford R, Davies (1997) Missense mutation clustering in the survival motor neuron gene: a role for a conserved trysine and glycine rich region of the protein in RNA metabolism? Hum Mol Genet 6:497-501
-
(1997)
Hum Mol Genet
, vol.6
, pp. 497-501
-
-
Talbot, K.1
Ponting, C.P.2
Theodosiou, A.M.3
Rodriques, N.R.4
Surtees, R.5
Mountford, R.6
Davies7
-
39
-
-
0028816258
-
A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients
-
Thompson TG, DiDonato CJ, Simard LR, Ingraham SE, Burghes AHM, Crawford TO, Rochette C, et al (1995) A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet 9:56-62
-
(1995)
Nat Genet
, vol.9
, pp. 56-62
-
-
Thompson, T.G.1
DiDonato, C.J.2
Simard, L.R.3
Ingraham, S.E.4
Burghes, A.H.M.5
Crawford, T.O.6
Rochette, C.7
-
40
-
-
0029819241
-
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
-
van der Steege G, Grootscholten PM, Cobben JM, Zappata S, Scheffer H, den Dunnen JT, van Ommen G-JB, et al (1996) Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5. Am J Hum Genet 59:834-838
-
(1996)
Am J Hum Genet
, vol.59
, pp. 834-838
-
-
Van Der Steege, G.1
Grootscholten, P.M.2
Cobben, J.M.3
Zappata, S.4
Scheffer, H.5
Den Dunnen, J.T.6
Van Ommen, G.-J.B.7
-
41
-
-
0028922174
-
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
-
van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, Scheffer H, et al (1995) PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 345:985-986
-
(1995)
Lancet
, vol.345
, pp. 985-986
-
-
Van Der Steege, G.1
Grootscholten, P.M.2
Van Der Vlies, P.3
Draaijers, T.G.4
Osinga, J.5
Cobben, J.M.6
Scheffer, H.7
-
43
-
-
0031568882
-
cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn)
-
Viollet L, Bertrandy S, Bueno Brunialti AL, Lefebvre S, Burlet P, Clermont O, Cruaud C, et al (1997) cDNA isolation, expression, and chromosomal localization of the mouse survival motor neuron gene (Smn). Genomics 40:185-188
-
(1997)
Genomics
, vol.40
, pp. 185-188
-
-
Viollet, L.1
Bertrandy, S.2
Bueno Brunialti, A.L.3
Lefebvre, S.4
Burlet, P.5
Clermont, O.6
Cruaud, C.7
-
45
-
-
0028903168
-
Mapping of the spinal muscular atrophy (SMA) gene to a 750 kb interval flanked by two microsatellites
-
Wirth B, El-Agwany A, Baasner A, Burghes AHM, Koch A, Dadze A, Piechaczeck-Wappenschmidt B, et al (1995a) Mapping of the spinal muscular atrophy (SMA) gene to a 750 kb interval flanked by two microsatellites. Eur J Hum Genet 3:56-60
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 56-60
-
-
Wirth, B.1
El-Agwany, A.2
Baasner, A.3
Burghes, A.H.M.4
Koch, A.5
Dadze, A.6
Piechaczeck-Wappenschmidt, B.7
-
46
-
-
0029117950
-
Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: Association of marker genotype with disease severity and candidate cDNAs
-
Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schöneborn S, Simard LR, et al (1995b) Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with 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
-
47
-
-
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
-
Wirth B, Pick E, Leutner A, Dadze A, Voosen B, Knapp M, Piechaczek-Wappenschmidt B, et al (1994) 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. Genomics 20:84-93
-
(1994)
Genomics
, vol.20
, pp. 84-93
-
-
Wirth, B.1
Pick, E.2
Leutner, A.3
Dadze, A.4
Voosen, B.5
Knapp, M.6
Piechaczek-Wappenschmidt, B.7
-
48
-
-
0025909386
-
Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
-
Zielenski J, Bozon D, Kerem B, Markiewicz D, Durie P, Rommens JM, Tsui LC (1991) Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10:229-235
-
(1991)
Genomics
, vol.10
, pp. 229-235
-
-
Zielenski, J.1
Bozon, D.2
Kerem, B.3
Markiewicz, D.4
Durie, P.5
Rommens, J.M.6
Tsui, L.C.7
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