Fanen P - Search Results

1

Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.

Fanen P, Guidoux S, Sarde CO, Mandel JL, Goossens M, Aubourg P. Fanen P, et al. J Clin Invest. 1994 Aug;94(2):516-20. doi: 10.1172/JCI117363. J Clin Invest. 1994. PMID: 8040304 Free PMC article.

2

A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms.

Ghanem N, Girodon E, Vidaud M, Martin J, Fanen P, Plassa F, Goossens M. Ghanem N, et al. Among authors: fanen p. Hum Mutat. 1992;1(3):229-39. doi: 10.1002/humu.1380010310. Hum Mutat. 1992. PMID: 1301930

3

A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene.

Ronchetto P, Telleria Orriols JJ, Fanen P, Cremonesi L, Ferrari M, Magnani C, Seia M, Goossens M, Romeo G, Devoto M. Ronchetto P, et al. Among authors: fanen p. Genomics. 1992 Feb;12(2):417-8. doi: 10.1016/0888-7543(92)90396-a. Genomics. 1992. PMID: 1371265 No abstract available.

4

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.

Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M. Fanen P, et al. Genomics. 1992 Jul;13(3):770-6. doi: 10.1016/0888-7543(92)90152-i. Genomics. 1992. PMID: 1379210

5

Exhaustive screening of exon 10 CFTR gene mutations and polymorphisms by denaturing gradient gel electrophoresis: applications to genetic counselling in cystic fibrosis.

Ghanem N, Fanen P, Martin J, Conteville P, Yahia-Cherif Z, Vidaud M, Goossens M. Ghanem N, et al. Among authors: fanen p. Mol Cell Probes. 1992 Feb;6(1):27-31. doi: 10.1016/0890-8508(92)90068-9. Mol Cell Probes. 1992. PMID: 1545831

6

Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.

Devoto M, Ronchetto P, Fanen P, Orriols JJ, Romeo G, Goossens M, Ferrari M, Magnani C, Seia M, Cremonesi L. Devoto M, et al. Among authors: fanen p. Am J Hum Genet. 1991 Jun;48(6):1127-32. Am J Hum Genet. 1991. PMID: 1709778 Free PMC article.

7

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

Vidaud M, Fanen P, Martin J, Ghanem N, Nicolas S, Goossens M. Vidaud M, et al. Among authors: fanen p. Hum Genet. 1990 Sep;85(4):446-9. doi: 10.1007/BF02428305. Hum Genet. 1990. PMID: 2210768

8

A new strategy for direct detection of beta-thalassemia mutations. Experience of the Créteil Center.

Goossens M, Fanen P, Attree O, Vidaud M. Goossens M, et al. Among authors: fanen p. Ann N Y Acad Sci. 1990;612:74-80. doi: 10.1111/j.1749-6632.1990.tb24292.x. Ann N Y Acad Sci. 1990. PMID: 2291576 No abstract available.

9

Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M. Ghanem N, et al. Among authors: fanen p. Genomics. 1994 May 15;21(2):434-6. doi: 10.1006/geno.1994.1290. Genomics. 1994. PMID: 7522211

10

[Cystic fibrosis: the CFTR gene, its mutations, the genetic counseling].

Goossens M, Ghanem N, Girodon E, Costes B, Fanen P. Goossens M, et al. Among authors: fanen p. Rev Pneumol Clin. 1995;51(3):130-6. Rev Pneumol Clin. 1995. PMID: 7569574 French.

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