Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy (Q83024738)

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18 January 2020

title

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

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18 January 2020

1

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18 January 2020

author name string

Catherine Costa

2

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18 January 2020

Jean-Marie Jouannic

3

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18 January 2020

Annick LeFloch

4

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18 January 2020

Irina Giurgea

5

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18 January 2020

Josiane Martin

6

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18 January 2020

Rachel Médina

7

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18 January 2020

Brigitte Boissier

8

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18 January 2020

Christine Gameiro

9

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18 January 2020

Françoise Muller

10

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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

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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

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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

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12 December 2020

Hyperechogenic fetal bowel: a prospective analysis of sixty consecutive cases

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

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

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

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

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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

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

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

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

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Meconium ileus in the absence of cystic fibrosis

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

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Implementation of the French nationwide cystic fibrosis newborn screening program

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

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

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

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Prognostic implications of fetal echogenic bowel

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

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

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12 December 2020

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

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

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12 December 2020

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

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12 December 2020

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

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

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

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12 December 2020