(Q83024738)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21184098%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

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

1 reference

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18 January 2020

1

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18 January 2020

author name string

Catherine Costa

2

1 reference

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18 January 2020

Jean-Marie Jouannic

3

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18 January 2020

Annick LeFloch

4

1 reference

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18 January 2020

Irina Giurgea

5

1 reference

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18 January 2020

Josiane Martin

6

1 reference

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18 January 2020

Rachel Médina

7

1 reference

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18 January 2020

Brigitte Boissier

8

1 reference

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18 January 2020

Christine Gameiro

9

1 reference

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18 January 2020

Françoise Muller

10

1 reference

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18 January 2020

Michel Goossens

11

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18 January 2020

Corinne Alberti

12

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18 January 2020

Emmanuelle Girodon

13

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18 January 2020

publication date

24 December 2010

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18 January 2020

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18 January 2020

volume

129

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18 January 2020

issue

4

1 reference

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18 January 2020

page(s)

387-396

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

18 January 2020

cites work

1 reference

12 December 2020

Hyperechogenic fetal bowel: a prospective analysis of sixty consecutive cases

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical evaluation of isolated nonvisualized fetal gallbladder

1 reference

12 December 2020

The CFTR gene and regulation of its expression

1 reference

12 December 2020

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

1 reference

12 December 2020

Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus

1 reference

12 December 2020

Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance

1 reference

12 December 2020

Mid-trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q)

1 reference

12 December 2020

Clinical outcome of cystic fibrosis presenting with or without meconium ileus: a matched cohort study

1 reference

12 December 2020

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

1 reference

12 December 2020

Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases

1 reference

12 December 2020

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

1 reference

12 December 2020

Prenatal diagnosis of cystic fibrosis: ultrasonography of the gallbladder at 17-19 weeks of gestation

1 reference

12 December 2020

Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up

1 reference

12 December 2020

Meconium ileus in the absence of cystic fibrosis

1 reference

12 December 2020

Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19)

1 reference

12 December 2020

Implementation of the French nationwide cystic fibrosis newborn screening program

1 reference

12 December 2020

Bowel abnormalities in the fetus--correlation of prenatal ultrasonographic findings with outcome

1 reference

12 December 2020

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

1 reference

12 December 2020

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

1 reference

12 December 2020

Prognostic implications of fetal echogenic bowel

1 reference

12 December 2020

Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele

1 reference

12 December 2020

Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations

1 reference

12 December 2020

Does presenting with meconium ileus affect the prognosis of children with cystic fibrosis?

1 reference

12 December 2020

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

1 reference

12 December 2020

Nonvisualization of the fetal gallbladder by second-trimester ultrasound scan: strategy of clinical management based on four examples

1 reference

12 December 2020

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

1 reference

12 December 2020

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

1 reference

12 December 2020

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

1 reference

12 December 2020