Burlet P - Search Results

1

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. 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.

2

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.

Lefebvre S, Burlet P, Viollet L, Bertrandy S, Huber C, Belser C, Munnich A. Lefebvre S, et al. Among authors: burlet p. Hum Mol Genet. 2002 May 1;11(9):1017-27. doi: 10.1093/hmg/11.9.1017. Hum Mol Genet. 2002. PMID: 11978761

3

Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.

Melki J, Abdelhak S, Burlet P, Raclin V, Kaplan J, Spiegel R, Gilgenkrantz S, Philip N, Chauvet ML, Dumez Y, et al. Melki J, et al. Among authors: burlet p. J Med Genet. 1992 Mar;29(3):171-4. doi: 10.1136/jmg.29.3.171. J Med Genet. 1992. PMID: 1348092 Free PMC article.

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: burlet p. 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. Among authors: burlet p. 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: burlet p. 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: burlet p. Am J Hum Genet. 1994 Apr;54(4):687-94. Am J Hum Genet. 1994. PMID: 8128967 Free PMC article.

8

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: burlet p. J Clin Invest. 1996 Sep 1;98(5):1130-2. doi: 10.1172/JCI118895. J Clin Invest. 1996. PMID: 8787675 Free PMC article.

9

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: burlet p. Genomics. 1996 Mar 15;32(3):479-82. doi: 10.1006/geno.1996.0147. Genomics. 1996. PMID: 8838816

10

The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.

Bürglen L, Seroz T, Miniou P, Lefebvre S, Burlet P, Munnich A, Pequignot EV, Egly JM, Melki J. Bürglen L, et al. Among authors: burlet p. Am J Hum Genet. 1997 Jan;60(1):72-9. Am J Hum Genet. 1997. PMID: 8981949 Free PMC article.

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