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Items: 4

1.

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.

de Becdelièvre A, Costa C, LeFloch A, Legendre M, Jouannic JM, Vigneron J, Bresson JL, Gobin S, Martin J, Goossens M, Girodon E.

Eur J Hum Genet. 2010 Oct;18(10):1166-9. doi: 10.1038/ejhg.2010.80. Epub 2010 May 26.

2.

Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

Moskowitz SM, Chmiel JF, Sternen DL, Cheng E, Gibson RL, Marshall SG, Cutting GR.

Genet Med. 2008 Dec;10(12):851-68. doi: 10.1097/GIM.0b013e31818e55a2. Review.

3.

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E.

Eur J Hum Genet. 2009 Jan;17(1):51-65. doi: 10.1038/ejhg.2008.136. Epub 2008 Aug 6.

4.

Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case.

Muller F, Dommergues M, Simon-Bouy B, Ferec C, Oury JF, Aubry MC, Bessis R, Vuillard E, Denamur E, Bienvenu T, Serre JL.

J Med Genet. 1998 Aug;35(8):657-60.

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