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Results: 1-9 |
Results: 9
Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification
Authors: Murdoch, JN Doudney, K Paternotte, C Copp, AJ Stanier, P
Citation: Jn. Murdoch et al., Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification, HUM MOL GEN, 10(22), 2001, pp. 2593-2601
Comparative physical and transcript maps of similar to 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23
Authors: Doudney, K Murdoch, JN Paternotte, C Bentley, L Gregory, S Copp, AJ Stanier, P
Citation: K. Doudney et al., Comparative physical and transcript maps of similar to 1 Mb around loop-tail, a gene for severe neural tube defects on distal mouse chromosome 1 and human chromosome 1q22-q23, GENOMICS, 72(2), 2001, pp. 180-192
Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelatedTurkish families
Authors: Gucuyener, K Ozgul, K Paternotte, C Erdem, H Prud'homme, JF Ozguc, M Topaloglu, H
Citation: K. Gucuyener et al., Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelatedTurkish families, NEUROPEDIAT, 32(3), 2001, pp. 142-146
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
Authors: Fontaine, B Davoine, CS Durr, A Paternotte, C Feki, I Weissenbach, J Hazan, J Brice, A
Citation: B. Fontaine et al., A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34, AM J HU GEN, 66(2), 2000, pp. 702-707
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
Authors: Hazan, J Fonknechten, N Mavel, D Paternotte, C Samson, D Artiguenave, F Davoine, CS Cruaud, C Durr, A Wincker, P Brottier, P Cattolico, L Barbe, V Burgunder, JM Prud'homme, JF Brice, A Fontaine, B Heilig, R Weissenbach, J
Citation: J. Hazan et al., Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia, NAT GENET, 23(3), 1999, pp. 296-303
Molecular cytogenetics localizes two new breakpoints on 11q23.3 and 21q11.2 in myelodysplastic syndrome with t(11;21) translocation
Authors: Wlodarska, I Selleri, L La Starza, R Paternotte, C Evans, GA Boogaerts, M Van den Berghe, H Mecucci, C
Citation: I. Wlodarska et al., Molecular cytogenetics localizes two new breakpoints on 11q23.3 and 21q11.2 in myelodysplastic syndrome with t(11;21) translocation, GENE CHROM, 24(3), 1999, pp. 199-206
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat inchromosome 2p-linked autosomal dominant spastic paraplegia
Authors: Hazan, J Davoine, CS Mavel, D Fonknechten, N Paternotte, C Fizames, C Cruaud, C Samson, D Muselet, D Vega-Czarny, N Brice, A Gyapay, G Heilig, R Fontaine, B Weissenbach, J
Citation: J. Hazan et al., A fine integrated map of the SPG4 locus excludes an expanded CAG repeat inchromosome 2p-linked autosomal dominant spastic paraplegia, GENOMICS, 60(3), 1999, pp. 309-319
Clinical heterogeneity of autosomal recessive spastic paraplegias - Analysis of 106 patients in 46 families
Authors: Coutinho, P Barros, J Zemmouri, R Guimaraes, J Alves, C Chorao, R Lourenco, E Ribeiro, P Loureiro, JL Santos, JV Hamri, A Paternotte, C Hazan, J Silva, MC Prud'homme, JF Grid, D
Citation: P. Coutinho et al., Clinical heterogeneity of autosomal recessive spastic paraplegias - Analysis of 106 patients in 46 families, ARCH NEUROL, 56(8), 1999, pp. 943-949
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q
Authors: Paternotte, C Rudnicki, D Fizames, C Davoine, CS Mavel, D Durr, A Samson, D Marquette, C Muselet, D Vega-Czarny, N Drouot, N Voit, T Fontaine, B Gyapay, G Auburger, G Weissenbach, J Hazan, J
Citation: C. Paternotte et al., Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q, GENOME RES, 8(11), 1998, pp. 1216-1227
Risultati: 1-9 |