Lefebvre S - Search Results

1

SMN gene deletions in adult-onset spinal muscular atrophy.

Clermont O, Burlet P, Lefebvre S, Bürglen L, Munnich A, Melki J. Clermont O, et al. Among authors: lefebvre s. Lancet. 1995 Dec 23-30;346(8991-8992):1712-3. doi: 10.1016/s0140-6736(95)92881-2. Lancet. 1995. PMID: 8551862 No abstract available.

2

A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al. Bussaglia E, et al. Among authors: lefebvre s. Nat Genet. 1995 Nov;11(3):335-7. doi: 10.1038/ng1195-335. Nat Genet. 1995. PMID: 7581461

3

SMN gene deletion in variant of infantile spinal muscular atrophy.

Bürglen L, Spiegel R, Ignatius J, Cobben JM, Landrieu P, Lefebvre S, Munnich A, Melki J. Bürglen L, et al. Among authors: lefebvre s. Lancet. 1995 Jul 29;346(8970):316-7. doi: 10.1016/s0140-6736(95)92206-7. Lancet. 1995. PMID: 7630275 No abstract available.

4

[Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies].

Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboulet S, Benichou B, Zeviani M, Le Paslier D, et al. Melki J, et al. Among authors: lefebvre s. C R Seances Soc Biol Fil. 1994;188(5-6):495-8. C R Seances Soc Biol Fil. 1994. PMID: 7780792 Review. French.

5

Identification and characterization of a spinal muscular atrophy-determining gene.

Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Lefebvre S, et al. Cell. 1995 Jan 13;80(1):155-65. doi: 10.1016/0092-8674(95)90460-3. Cell. 1995. PMID: 7813012 Free article.

6

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, Bénichou B, Zeviani M, Le Paslier D, et al. Melki J, et al. Among authors: lefebvre s. Science. 1994 Jun 3;264(5164):1474-7. doi: 10.1126/science.7910982. Science. 1994. PMID: 7910982

7

Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers.

Clermont O, Burlet P, Burglen L, Lefebvre S, Pascal F, McPherson J, Wasmuth JJ, Cohen D, Le Paslier D, Weissenbach J, et al. Clermont O, et al. Among authors: lefebvre s. Am J Hum Genet. 1994 Apr;54(4):687-94. Am J Hum Genet. 1994. PMID: 8128967 Free PMC article.

8

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

Burlet P, Bürglen L, Clermont O, Lefebvre S, Viollet L, Munnich A, Melki J. Burlet P, et al. Among authors: lefebvre s. J Med Genet. 1996 Apr;33(4):281-3. doi: 10.1136/jmg.33.4.281. J Med Genet. 1996. PMID: 8730281 Free PMC article.

9

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

Bürglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, Landrieu P, Verloes A, Munnich A, Melki J. Bürglen L, et al. Among authors: lefebvre s. J Clin Invest. 1996 Sep 1;98(5):1130-2. doi: 10.1172/JCI118895. J Clin Invest. 1996. PMID: 8787675 Free PMC article.

10

Structure and organization of the human survival motor neurone (SMN) gene.

Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J. Bürglen L, et al. Among authors: lefebvre s. Genomics. 1996 Mar 15;32(3):479-82. doi: 10.1006/geno.1996.0147. Genomics. 1996. PMID: 8838816

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

332 results

Search Page

Filters