Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy-Reference-Cited by-同舟云学术

Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy

Published:2010-12-24 Issue:4 Volume:129 Page:387-396
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

de Becdelièvre Alix,Costa Catherine,Jouannic Jean-Marie,LeFloch Annick,Giurgea Irina,Martin Josiane,Médina Rachel,Boissier Brigitte,Gameiro Christine,Muller Françoise,Goossens Michel,Alberti Corinne,Girodon Emmanuelle

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-010-0933-1.pdf

Reference32 articles.

1. Abramowicz MJ, Dessars B, Sevens C, Goossens M, Girodon Boulandet E (2000) Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele. J Med Genet 37:E15

2. Audrézet MP, Chen JM, Raguenes O, Chuzhanova N, Giteau K, Le Marechal C, Quere I, Cooper DN, Ferec C (2004) Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat 23:343–357

3. Bobadilla JL, Macek M Jr, Fine JP, Farrell PM (2002) Cystic fibrosis: a worldwide analysis of CFTR mutations—correlation with incidence data and application to screening. Hum Mutat 19:575–606

4. Boughanim M, Benachi A, Dreux S, Delahaye S, Muller F (2008) Nonvisualization of the fetal gallbladder by second-trimester ultrasound scan: strategy of clinical management based on four examples. Prenat Diagn 28:46–48

5. Castellani C, Cuppens H, Macek M Jr, Cassiman J, Kerem E, Durie P, Tullis E, Assael B, Bombieri C, Brown A, Casals T, Claustres M, Cutting G, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti P, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn J (2008) Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 7:179–196

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