Fanen P - Search Results

1

The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible.

Hinzpeter A, Reboul MP, Callebaut I, Zordan C, Costes B, Guichoux J, Iron A, Lacombe D, Martin N, Arveiler B, Fanen P, Fergelot P, Girodon E. Hinzpeter A, et al. Among authors: fanen p. Clin Case Rep. 2017 Mar 30;5(5):658-663. doi: 10.1002/ccr3.760. eCollection 2017 May. Clin Case Rep. 2017. PMID: 28469871 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

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

4

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

5

[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.

6

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations.

Costes B, Fanen P, Goossens M, Ghanem N. Costes B, et al. Among authors: fanen p. Hum Mutat. 1993;2(3):185-91. doi: 10.1002/humu.1380020306. Hum Mutat. 1993. PMID: 7689902

7

[The cystic fibrosis gene, its product CFTR protein and its mutations].

Goossens M, Fanen P, Costes B, Ghanem N. Goossens M, et al. Among authors: fanen p. Bull Acad Natl Med. 1993 Mar;177(3):371-80; discussion 380-1. Bull Acad Natl Med. 1993. PMID: 7689915 Review. French.

8

Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis.

Fanen P, Clain J, Labarthe R, Hulin P, Girodon E, Pagesy P, Goossens M, Edelman A. Fanen P, et al. FEBS Lett. 1999 Jun 11;452(3):371-4. doi: 10.1016/s0014-5793(99)00647-x. FEBS Lett. 1999. PMID: 10386624 Free article.

9

Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19).

Costes B, Girodon E, Vidaud D, Flori E, Ardalan A, Conteville P, Fanen P, Niel F, Vidaud M, Goossens M. Costes B, et al. Among authors: fanen p. Clin Chem. 2000 Sep;46(9):1417-20. Clin Chem. 2000. PMID: 10973878 No abstract available.

10

A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype.

Clain J, Lehmann-Che J, Girodon E, Lipecka J, Edelman A, Goossens M, Fanen P. Clain J, et al. Among authors: fanen p. Hum Genet. 2005 May;116(6):454-60. doi: 10.1007/s00439-004-1246-z. Epub 2005 Mar 3. Hum Genet. 2005. PMID: 15744523

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