-
1
-
-
0027057672
-
International SMA consortium meeting
-
Munsat T., and Davies K. International SMA consortium meeting. Neuromusc Disord 2 (1992) 423-428
-
(1992)
Neuromusc Disord
, vol.2
, pp. 423-428
-
-
Munsat, T.1
Davies, K.2
-
2
-
-
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., et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264 (1994) 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
-
3
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S., Burglen L., Reboullet S., Clermont O., Burlet P., Viollet L., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80 (1995) 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
-
4
-
-
0343267780
-
Structure and organization of the human survival motor neurone (SMN) gene
-
Burglen L., Lefebvre S., Clermont O., Burlet P., Viollet L., Cruaud C., et al. Structure and organization of the human survival motor neurone (SMN) gene. Genomics 32 (1996) 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
-
5
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
Monani U., Lorson C., Parsons D., Prior T., Androphy E., Burghes A., et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 8 (1999) 1177-1183
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1177-1183
-
-
Monani, U.1
Lorson, C.2
Parsons, D.3
Prior, T.4
Androphy, E.5
Burghes, A.6
-
6
-
-
0041665176
-
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
-
Kashima T., and Manley J. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 34 (2003) 460-463
-
(2003)
Nat Genet
, vol.34
, pp. 460-463
-
-
Kashima, T.1
Manley, J.2
-
7
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
-
Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 15 (2000) 228-237
-
(2000)
Hum Mutat
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
8
-
-
0033850254
-
Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension
-
Gerard B., Ginet N., Matthijs G., Evrard P., Baumann C., Da Silva F., et al. Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension. Hum Mutat 16 (2000) 253-263
-
(2000)
Hum Mutat
, vol.16
, pp. 253-263
-
-
Gerard, B.1
Ginet, N.2
Matthijs, G.3
Evrard, P.4
Baumann, C.5
Da Silva, F.6
-
9
-
-
0025307919
-
Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification
-
Handyside A., Kontogianni E., Hardy K., and Winston R. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 44 (1990) 768-770
-
(1990)
Nature
, vol.44
, pp. 768-770
-
-
Handyside, A.1
Kontogianni, E.2
Hardy, K.3
Winston, R.4
-
10
-
-
0031663165
-
Preimplantation genetic diagnosis of spinal muscular atrophy
-
Dreesen J., Bras M., de Die-Smulders C., Dumoulin J., Cobben J., Evers J., et al. Preimplantation genetic diagnosis of spinal muscular atrophy. Mol Hum Reprod 4 (1998) 881-885
-
(1998)
Mol Hum Reprod
, vol.4
, pp. 881-885
-
-
Dreesen, J.1
Bras, M.2
de Die-Smulders, C.3
Dumoulin, J.4
Cobben, J.5
Evers, J.6
-
11
-
-
0033595577
-
Preimplantation genetic diagnosis for spinal muscular atrophy type I
-
Fallon L., Harton G., Sisson M., Rodriguez E., Field L., Fugger E., et al. Preimplantation genetic diagnosis for spinal muscular atrophy type I. Neurology 53 (1999) 1087-1090
-
(1999)
Neurology
, vol.53
, pp. 1087-1090
-
-
Fallon, L.1
Harton, G.2
Sisson, M.3
Rodriguez, E.4
Field, L.5
Fugger, E.6
-
12
-
-
0034798969
-
Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy
-
Daniels G., Pettigrew R., Thornhill A., Abbs S., Lashwood A., O'Mahony F., et al. Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy. Mol Hum Reprod 7 (2001) 995-1000
-
(2001)
Mol Hum Reprod
, vol.7
, pp. 995-1000
-
-
Daniels, G.1
Pettigrew, R.2
Thornhill, A.3
Abbs, S.4
Lashwood, A.5
O'Mahony, F.6
-
13
-
-
24944495482
-
Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy
-
Burlet P., Frydman N., Gigarel N., Bonnefont J.P., Kerbrat V., Tachdjian G., et al. Improved single-cell protocol for preimplantation genetic diagnosis of spinal muscular atrophy. Fertil Steril 84 (2005) 734-739
-
(2005)
Fertil Steril
, vol.84
, pp. 734-739
-
-
Burlet, P.1
Frydman, N.2
Gigarel, N.3
Bonnefont, J.P.4
Kerbrat, V.5
Tachdjian, G.6
-
14
-
-
0034924057
-
Allele-specific amplification for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy
-
Moutou C., Gardes N., Rongieres C., Ohl J., Bettahar-Lebugle K., Wittemer C., et al. Allele-specific amplification for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy. Prenat Diagn 21 (2001) 498-503
-
(2001)
Prenat Diagn
, vol.21
, pp. 498-503
-
-
Moutou, C.1
Gardes, N.2
Rongieres, C.3
Ohl, J.4
Bettahar-Lebugle, K.5
Wittemer, C.6
-
15
-
-
0042021853
-
Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy
-
Moutou C., Gardes N., and Viville S. Duplex PCR for preimplantation genetic diagnosis (PGD) of spinal muscular atrophy. Prenat Diagn 23 (2003) 685-689
-
(2003)
Prenat Diagn
, vol.23
, pp. 685-689
-
-
Moutou, C.1
Gardes, N.2
Viville, S.3
-
16
-
-
0038825355
-
The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders
-
Fiorentino F., Magli M.C., Podini D., Ferraretti A., Nuccitelli A., Vitale N., et al. The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders. Mol Hum Reprod 9 (2003) 399-410
-
(2003)
Mol Hum Reprod
, vol.9
, pp. 399-410
-
-
Fiorentino, F.1
Magli, M.C.2
Podini, D.3
Ferraretti, A.4
Nuccitelli, A.5
Vitale, N.6
-
17
-
-
0037292375
-
First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers
-
Girardet A., Hamamah S., Anahory T., Dechaud H., Sarda P., Hedon B., et al. First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers. Mol Hum Reprod 9 (2003) 111-116
-
(2003)
Mol Hum Reprod
, vol.9
, pp. 111-116
-
-
Girardet, A.1
Hamamah, S.2
Anahory, T.3
Dechaud, H.4
Sarda, P.5
Hedon, B.6
-
18
-
-
0024399081
-
Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers
-
Cui X., Li H., Goradia T., Lange K., Kazazian H., Galas D., et al. Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc Natl Acad Sci USA 86 (1989) 9389-9393
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 9389-9393
-
-
Cui, X.1
Li, H.2
Goradia, T.3
Lange, K.4
Kazazian, H.5
Galas, D.6
-
19
-
-
0028968665
-
Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion
-
Liu J., Lissens W., Van Broeckhoven C., Lofgren A., Camus M., Liebaers I., et al. Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion. Prenat Diagn 15 (1995) 351-358
-
(1995)
Prenat Diagn
, vol.15
, pp. 351-358
-
-
Liu, J.1
Lissens, W.2
Van Broeckhoven, C.3
Lofgren, A.4
Camus, M.5
Liebaers, I.6
-
20
-
-
0036057249
-
Pregnancy after preimplantation genetic diagnosis for ataxia telangiectasia
-
Hellani A., Lauge A., Ozand P., Jaroudi K., and Coskun S. Pregnancy after preimplantation genetic diagnosis for ataxia telangiectasia. Mol Hum Reprod 8 (2002) 785-788
-
(2002)
Mol Hum Reprod
, vol.8
, pp. 785-788
-
-
Hellani, A.1
Lauge, A.2
Ozand, P.3
Jaroudi, K.4
Coskun, S.5
-
21
-
-
0027226089
-
Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation (FISH)
-
Delhanty J., Griffin D., Handyside A., Harper J., Atkinson G., Pieters M., et al. Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation (FISH). Hum Mol Genet 2 (1993) 1183-1185
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1183-1185
-
-
Delhanty, J.1
Griffin, D.2
Handyside, A.3
Harper, J.4
Atkinson, G.5
Pieters, M.6
-
22
-
-
0028816762
-
Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos
-
Harper J., Coonen E., Handyside A., Winston R., Hopman A., and Delhanty J. Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenat Diagn 15 (1995) 41-49
-
(1995)
Prenat Diagn
, vol.15
, pp. 41-49
-
-
Harper, J.1
Coonen, E.2
Handyside, A.3
Winston, R.4
Hopman, A.5
Delhanty, J.6
-
23
-
-
30944468118
-
Preimplantation genetic diagnosis for Pelizaeus-Merzbacher disease with testing for age-related aneuploidies
-
Verlinsky Y., Rechitsky S., Laziuk K., Librach C., Genovese R., and Kuliev A. Preimplantation genetic diagnosis for Pelizaeus-Merzbacher disease with testing for age-related aneuploidies. Reprod Biomed Online 12 (2006) 83-88
-
(2006)
Reprod Biomed Online
, vol.12
, pp. 83-88
-
-
Verlinsky, Y.1
Rechitsky, S.2
Laziuk, K.3
Librach, C.4
Genovese, R.5
Kuliev, A.6
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