(Q35445496)

8 August 2017

title

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

1 reference

8 August 2017

Ogino S

1

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8 August 2017

Wilson RB

series ordinal

2

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8 August 2017

Grody WW

series ordinal

3

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 May 2004

1 reference

Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

41

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8 August 2017

issue

5

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8 August 2017

page(s)

e70

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Bayesian analysis and risk assessment in genetic counseling and testing.

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735756

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735756

Standards and guidelines for CFTR mutation testing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735756

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735756

Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735756

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735756

Prenatal diagnosis of the fetus with cystic fibrosis and meconium ileus.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735756

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735756

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735756

The risk of cystic fibrosis with prenatally detected echogenic bowel in an ethnically and racially diverse North American population

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735756

Prognostic implications of fetal echogenic bowel

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735756

Spatial patterns of cystic fibrosis mutation spectra in European populations

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735756

The clinical significance of fetal echogenic bowel

15 November 2018

1 reference

12 December 2020

Prevalence of cystic fibrosis mutations in pregnancies with fetal echogenic bowel

1 reference

12 December 2020

Isolated hyperechoic fetal bowel: significance and implications for management

1 reference

12 December 2020

Sonographically detected hyperechoic fetal bowel: significance and implications for pregnancy management

1 reference

12 December 2020

Prenatal diagnosis in 200 pregnancies with a 1-in-4 risk of cystic fibrosis

1 reference

12 December 2020

Risk of cystic fibrosis with prenatally detected echogenic bowel

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2003.015065

1 reference

8 August 2017

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8 August 2017

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