Dubourg C - Search Results

1

Eukaryotic translation termination factor gene (ETF1/eRF1) maps at D5S500 in a commonly deleted region of chromosome 5q31 in malignant myeloid diseases.

Guenet L, Henry C, Toutain B, Dubourg C, Le Gall JY, David V, Le Treut A. Guenet L, et al. Among authors: dubourg c. Cytogenet Cell Genet. 2000;88(1-2):82-6. doi: 10.1159/000015491. Cytogenet Cell Genet. 2000. PMID: 10773672

2

Rapid detection of 1078 delT mutation by PCR-mediated site-directed mutagenesis: detection of cystic fibrosis carriers in a celtic population.

Dorval I, Fergelot P, Dubourg C, Jézéquel P, Chauvel B, Le Gall JY, Le Treut A. Dorval I, et al. Among authors: dubourg c. Clin Chem. 1994 Dec;40(12):2318-9. Clin Chem. 1994. PMID: 7527310 No abstract available.

3

Identification of the homozygous missense mutation in the lecithin:cholesterol-acyltransferase (LCAT) gene, causing LCAT familial deficiency in two French patients.

Dorval I, Jezequel P, Dubourg C, Chauvel B, Le Pogamp P, Le Gall JY. Dorval I, et al. Among authors: dubourg c. Atherosclerosis. 1994 Feb;105(2):251-2. doi: 10.1016/0021-9150(94)90056-6. Atherosclerosis. 1994. PMID: 8003101 No abstract available.

4

French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism.

Dorval I, Jézéquel P, Chauvel B, Dubourg C, Fergelot P, Le Gall JY, Roussey M, Blayau M. Dorval I, et al. Among authors: dubourg c. Hum Mutat. 1995;6(4):334-5. doi: 10.1002/humu.1380060407. Hum Mutat. 1995. PMID: 8680407

5

FRAXE: the HindIII/OXE20 restriction polymorphism is not a rare variant.

Blayau M, Odent S, Dubourg C, David V. Blayau M, et al. Among authors: dubourg c. Hum Genet. 1998 Nov;103(5):626-7. doi: 10.1007/s004390050879. Hum Genet. 1998. PMID: 9860307 No abstract available.

6

Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online.

Dubourg C, Odent S, Fergelot P, Le Gall JY, David V, Blayau M. Dubourg C, et al. Hum Mutat. 1999;13(2):173. doi: 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO;2-3. Hum Mutat. 1999. PMID: 10094565

7

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.

Pasquier L, Dubourg C, Blayau M, Lazaro L, Le Marec B, David V, Odent S. Pasquier L, et al. Among authors: dubourg c. Eur J Hum Genet. 2000 Oct;8(10):797-800. doi: 10.1038/sj.ejhg.5200540. Eur J Hum Genet. 2000. PMID: 11039582

8

Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.

Jézéquel P, Dubourg C, Le Lannou D, Odent S, Le Gall JY, Blayau M, Le Treut A, David V. Jézéquel P, et al. Among authors: dubourg c. Mol Hum Reprod. 2000 Dec;6(12):1063-7. doi: 10.1093/molehr/6.12.1063. Mol Hum Reprod. 2000. PMID: 11101688

9

[Genetic study of holoprosencephaly].

Dubourg C, Lazaro L, Blayau M, Pasquier L, Durou MR, Odent S, David V. Dubourg C, et al. Ann Biol Clin (Paris). 2003 Nov-Dec;61(6):679-87. Ann Biol Clin (Paris). 2003. PMID: 14711609 Free article. French.

10

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.

Pasquier L, Dubourg C, Gonzales M, Lazaro L, David V, Odent S, Encha-Razavi F. Pasquier L, et al. Among authors: dubourg c. J Med Genet. 2005 Jan;42(1):e4. doi: 10.1136/jmg.2004.023416. J Med Genet. 2005. PMID: 15635066 Free PMC article. No abstract available.

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