Fanen P - Search Results

1

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

2

Real-Life Evaluation of an Algorithm for the Diagnosis of Cardiac Amyloidosis.

Bézard M, Kharoubi M, Galat A, Le Bras F, Poullot E, Molinier-Frenkel V, Fanen P, Funalot B, Moktefi A, Abulizi M, Deux JF, Lemonnier F, Guendouz S, Chalard C, Zaroui A, Itti E, Hittinger L, Teiger E, Oghina S, Damy T. Bézard M, et al. Among authors: fanen p. Mayo Clin Proc. 2023 Jan;98(1):48-59. doi: 10.1016/j.mayocp.2022.08.016. Epub 2022 Dec 2. Mayo Clin Proc. 2023. PMID: 36464537

3

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

4

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.

5

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

6

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

7

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.

8

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

9

A 3' splice site consensus sequence mutation in the cystic fibrosis gene.

Guillermit H, Fanen P, Ferec C. Guillermit H, et al. Among authors: fanen p. Hum Genet. 1990 Sep;85(4):450-3. doi: 10.1007/BF02428306. Hum Genet. 1990. PMID: 2210769

10

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.

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