Girodon E - Search Results

1

Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.

Girodon E, Ghanem N, Vidaud M, Riou J, Martin J, Galactéros F, Goossens M. Girodon E, et al. Ann Hematol. 1992 Oct;65(4):188-92. doi: 10.1007/BF01703113. Ann Hematol. 1992. PMID: 1420507

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: girodon e. Hum Mutat. 1992;1(3):229-39. doi: 10.1002/humu.1380010310. Hum Mutat. 1992. PMID: 1301930

3

Hb Taybe (alpha 38 or 39 THR deleted): an alpha-globin defect, silent in the heterozygous state and producing severe hemolytic anemia in the homozygous.

Galacteros F, Girodon E, M'Rad A, Martin J, Goossens M, Jaber L, Cohen IJ, Tamary H, Goshen Y, Zaizov R, et al. Galacteros F, et al. Among authors: girodon e. C R Acad Sci III. 1994 May;317(5):437-44. C R Acad Sci III. 1994. PMID: 7994622

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: girodon e. 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: girodon e. Rev Pneumol Clin. 1995;51(3):130-6. Rev Pneumol Clin. 1995. PMID: 7569574 French.

6

Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping.

Costes B, Girodon E, Ghanem N, Chassignol M, Thuong NT, Dupret D, Goossens M. Costes B, et al. Among authors: girodon e. Hum Mol Genet. 1993 Apr;2(4):393-7. doi: 10.1093/hmg/2.4.393. Hum Mol Genet. 1993. PMID: 7684943

7

Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens.

Costes B, Girodon E, Ghanem N, Flori E, Jardin A, Soufir JC, Goossens M. Costes B, et al. Among authors: girodon e. Eur J Hum Genet. 1995;3(5):285-93. doi: 10.1159/000472312. Eur J Hum Genet. 1995. PMID: 8556303

8

PK Mondor: prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia.

Rouger H, Girodon E, Goossens M, Galactéros F, Cohen-Solal M. Rouger H, et al. Among authors: girodon e. Prenat Diagn. 1996 Feb;16(2):97-104. doi: 10.1002/(SICI)1097-0223(199602)16:2<97::AID-PD814>3.0.CO;2-O. Prenat Diagn. 1996. PMID: 8650134

9

CFTR gene mutations in adults with disseminated bronchiectasis.

Girodon E, Cazeneuve C, Lebargy F, Chinet T, Costes B, Ghanem N, Martin J, Lemay S, Scheid P, Housset B, Bignon J, Goossens M. Girodon E, et al. Eur J Hum Genet. 1997 May-Jun;5(3):149-55. Eur J Hum Genet. 1997. PMID: 9272738

10

Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders.

Sternberg D, Danan C, Lombès A, Laforêt P, Girodon E, Goossens M, Amselem S. Sternberg D, et al. Among authors: girodon e. Hum Mol Genet. 1998 Jan;7(1):33-42. doi: 10.1093/hmg/7.1.33. Hum Mol Genet. 1998. PMID: 9384601

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