Girodon E - Search Results

1

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

Bergougnoux A, Billet A, Ka C, Heller M, Degrugillier F, Vuillaume ML, Thoreau V, Sasorith S, Bareil C, Thèze C, Ferec C, Gac GL, Bienvenu T, Bieth E, Gaston V, Lalau G, Pagin A, Malinge MC, Dufernez F, Lemonnier L, Koenig M, Fergelot P, Claustres M, Taulan-Cadars M, Kitzis A, Reboul MP, Becq F, Fanen P, Mekki C, Audrezet MP, Girodon E, Raynal C. Bergougnoux A, et al. Among authors: girodon e. J Cyst Fibros. 2023 May;22(3):515-524. doi: 10.1016/j.jcf.2022.12.003. Epub 2022 Dec 23. J Cyst Fibros. 2023. PMID: 36567205

2

Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

Berwouts S, Morris MA, Girodon E, Schwarz M, Stuhrmann M, Dequeker E. Berwouts S, et al. Among authors: girodon e. Hum Mutat. 2011 Nov;32(11):1197-203. doi: 10.1002/humu.21569. Epub 2011 Aug 17. Hum Mutat. 2011. PMID: 21796730

3

Nasal potential difference in cystic fibrosis diagnosis of very young children.

Sermet-Gaudelus I, Girodon E, Huet F, Aboutaam R, Bui S, Deneuville E, Guillot M, Vrielynck S, Lenoir G, Edelman A. Sermet-Gaudelus I, et al. Among authors: girodon e. J Pediatr. 2007 Mar;150(3):e34-5. doi: 10.1016/j.jpeds.2006.11.055. J Pediatr. 2007. PMID: 17307527 No abstract available.

4

Newborn screening programmes including genetic analyses: limits and risks of negative consequences?

Thauvin-Robinet C, Munck A, Roussey M, Huet F, Binquet C, Girodon E. Thauvin-Robinet C, et al. Among authors: girodon e. J Epidemiol Community Health. 2010 Nov;64(11):937-8. doi: 10.1136/jech.2009.104331. Epub 2010 Jun 16. J Epidemiol Community Health. 2010. PMID: 20558419 No abstract available.

5

[3120+1kbdel8.6kb]+[p.N1303K] genotype in an Emirati cystic fibrosis patient: indication of a founder mutation in Palestinian Arabs.

Saleheen D, Frossard PM, Girodon E. Saleheen D, et al. Among authors: girodon e. J Ayub Med Coll Abbottabad. 2006 Jul-Sep;18(3):69-71. J Ayub Med Coll Abbottabad. 2006. PMID: 17348320

6

Simultaneous molecular haplotyping of both IVS8 (TG)m and (T)n tracts in the CFTR gene: still a challenge.

Costa C, Goossens M, Girodon E. Costa C, et al. Among authors: girodon e. Clin Chem. 2006 Aug;52(8):1621-2; author reply 1622. doi: 10.1373/clinchem.2005.065383. Clin Chem. 2006. PMID: 16873311 No abstract available.

7

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome.

Flori E, Girodon E, Samama B, Becmeur F, Viville B, Girard-Lemaire F, Doray B, Schluth C, Marcellin L, Boehm N, Goossens M, Pingault V. Flori E, et al. Among authors: girodon e. Eur J Hum Genet. 2005 Sep;13(9):1013-8. doi: 10.1038/sj.ejhg.5201442. Eur J Hum Genet. 2005. PMID: 15915162

8

Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data.

Berwouts S, Girodon E, Schwarz M, Stuhrmann M, Morris MA, Dequeker E. Berwouts S, et al. Among authors: girodon e. Eur J Hum Genet. 2012 Dec;20(12):1209-15. doi: 10.1038/ejhg.2012.131. Epub 2012 Jun 20. Eur J Hum Genet. 2012. PMID: 22713805 Free PMC article.

9

Quantitative real-time PCR assay for rapid identification of deletion carriers in hemophilia.

Costa C, Jouannic JM, Stieltjes N, Costa JM, Girodon E, Goossens M. Costa C, et al. Among authors: girodon e. Clin Chem. 2004 Jul;50(7):1269-70. doi: 10.1373/clinchem.2004.031609. Clin Chem. 2004. PMID: 15229165 No abstract available.

10

CFTR genotypes in patients with normal or borderline sweat chloride levels.

Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E. Feldmann D, et al. Among authors: girodon e. Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183. Hum Mutat. 2003. PMID: 12955726

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