Literature DB >> 12070257

Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies.

V Scotet, M De Braekeleer, M P Audrézet, I Quéré, B Mercier, I Duguépéroux, J Andrieux, M Blayau, C Férec.   

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Year:  2002        PMID： 12070257      PMCID： PMC1735149          DOI： 10.1136/jmg.39.6.443

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  9 in total

1.  Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France.

Authors:  Virginie Scotet; Marie-Pierre Audrézet; Michel Roussey; Gilles Rault; Martine Blayau; Marc De Braekeleer; Claude Férec
Journal:  Hum Genet       Date:  2003-05-27       Impact factor: 4.132

2.  Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation.

Authors:  S Ogino; R B Wilson; W W Grody
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318

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

Authors:  Alix de Becdelièvre; Catherine Costa; Annick LeFloch; Marie Legendre; Jean-Marie Jouannic; Jacqueline Vigneron; Jean-Luc Bresson; Stéphanie Gobin; Josiane Martin; Michel Goossens; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2010-05-26       Impact factor: 4.246

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

Authors:  Alix de Becdelièvre; Catherine Costa; Jean-Marie Jouannic; Annick LeFloch; Irina Giurgea; Josiane Martin; Rachel Médina; Brigitte Boissier; Christine Gameiro; Françoise Muller; Michel Goossens; Corinne Alberti; Emmanuelle Girodon
Journal:  Hum Genet       Date:  2010-12-24       Impact factor: 4.132

5.  Prenatal screening of Cystic Fibrosis: a single centre experience.

Authors:  Domenico Bizzoco; Alvaro Mesoraca; Antonella Cima; Monica Sarti; Gianluca Di Giacomo; Giovanna Scerra; Maria Antonietta Barone; Manuela Di Natale; Ivan Gabrielli; Caterina Tamburino; Claudia Scargiali; Cristina Ernandez; Maria Pia D'Aleo; Michele Todini; Rita Pompili; Luisa Mobili; Lucia Mangiafico; Ornella Carcioppolo; Claudio Coco; Pietro Cignini; Laura D'Emidio; Alessandra Girgenti; Cristiana Brizzi; Alessandro Cavaliere; Claudio Giorlandino
Journal:  J Prenat Med       Date:  2008-01

6.  Assessing the Disease-Liability of Mutations in CFTR.

Authors:  Claude Ferec; Garry R Cutting
Journal:  Cold Spring Harb Perspect Med       Date:  2012-12-01       Impact factor: 6.915

7.  Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Authors:  Marie-Pierre Audrezet; Aurélia Dabricot; Cédric Le Marechal; Claude Ferec
Journal:  J Mol Diagn       Date:  2008-08-07       Impact factor: 5.568

8.  Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

Authors:  Chadia Mekki; Abdel Aissat; Véronique Mirlesse; Sophie Mayer Lacrosniere; Elsa Eche; Annick Le Floch; Sandra Whalen; Cecile Prud'Homme; Christelle Remus; Benoit Funalot; Vanina Castaigne; Pascale Fanen; Alix de Becdelièvre
Journal:  Genes (Basel)       Date:  2021-04-29       Impact factor: 4.096

9.  Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.

Authors:  Christos Dimitriou; Souha Saliba; Xavier Peyrassol; Wafa Ben Abbou; Marie Cécile Nassogne; Carine Neugroschl; Elsa Wiame; Anne De Leener; Marie Cassart
Journal:  Clin Case Rep       Date:  2020-03-06
  9 in total

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