Le Paslier D - Search Results

1

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.

Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C. Konrad M, et al. Among authors: le paslier d. Hum Mol Genet. 1996 Mar;5(3):367-71. doi: 10.1093/hmg/5.3.367. Hum Mol Genet. 1996. PMID: 8852662

2

Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity.

Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler MC, Le Paslier D, Cohen D, Weissenbach J, Beckmann J, Antignac C. Medhioub M, et al. Among authors: le paslier d. Genomics. 1994 Jul 15;22(2):296-301. doi: 10.1006/geno.1994.1387. Genomics. 1994. PMID: 7806215

3

A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q.

Konrad M, Saunier S, Silbermann F, Benessy F, Le Paslier D, Weissenbach J, Broyer M, Gubler MC, Antignac C. Konrad M, et al. Among authors: le paslier d. Genomics. 1995 Dec 10;30(3):514-20. doi: 10.1006/geno.1995.1272. Genomics. 1995. PMID: 8825638

4

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: le paslier d. Am J Hum Genet. 1994 Apr;54(4):687-94. Am J Hum Genet. 1994. PMID: 8128967 Free PMC article.

5

A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.

Fujita R, Sirugo G, Duclos F, Abderrahim H, Le Paslier D, Cohen D, Brownstein BH, Schlessinger D, Mandel JL, Koenig M. Fujita R, et al. Among authors: le paslier d. Hum Genet. 1992 Jul;89(5):531-8. doi: 10.1007/BF00219179. Hum Genet. 1992. PMID: 1353054 Free article.

6

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

Barrat FJ, Auloge L, Pastural E, Lagelouse RD, Vilmer E, Cant AJ, Weissenbach J, Le Paslier D, Fischer A, de Saint Basile G. Barrat FJ, et al. Among authors: le paslier d. Am J Hum Genet. 1996 Sep;59(3):625-32. Am J Hum Genet. 1996. PMID: 8751864 Free PMC article.

7

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: le paslier d. Science. 1994 Jun 3;264(5164):1474-7. doi: 10.1126/science.7910982. Science. 1994. PMID: 7910982

8

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.

Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, Petit C. Guilford P, et al. Among authors: le paslier d. Hum Mol Genet. 1994 Jun;3(6):989-93. doi: 10.1093/hmg/3.6.989. Hum Mol Genet. 1994. PMID: 7951250

9

Localization of the CDKN4/p27Kip1 gene to human chromosome 12p12.3.

Martin E, Cacheux V, Cavé H, Lapierre JM, Le Paslier D, Grandchamp B. Martin E, et al. Among authors: le paslier d. Hum Genet. 1995 Dec;96(6):668-70. doi: 10.1007/BF00210296. Hum Genet. 1995. PMID: 8522324

10

Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome.

Chevillard C, Le Paslier D, Passage E, Ougen P, Billault A, Boyer S, Mazan S, Bachellerie JP, Vignal A, Cohen D, et al. Chevillard C, et al. Among authors: le paslier d. Hum Mol Genet. 1993 Aug;2(8):1235-43. doi: 10.1093/hmg/2.8.1235. Hum Mol Genet. 1993. PMID: 8401506

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