(Q41814756)

12 October 2017

Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs (English)

1 reference

12 October 2017

1 reference

Z H Miedzybrodzka

1

1 reference

12 October 2017

Z Yin

series ordinal

2

1 reference

12 October 2017

K F Kelly

series ordinal

3

1 reference

12 October 2017

N E Haites

series ordinal

4

1 reference

12 October 2017

language of work or name

English

0 references

publication date

1 July 1994

1 reference

Journal of Medical Genetics

12 October 2017

1 reference

12 October 2017

31

1 reference

12 October 2017

7

1 reference

12 October 2017

545-550

1 reference

Prevalence of cystic fibrosis mutations in the Grampian region of Scotland

12 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

Identification of the cystic fibrosis gene: genetic analysis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

A mutation in the second nucleotide binding fold of the cystic fibrosis gene.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

A deletion mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) locus: Delta I507.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

Antenatal cystic fibrosis carrier screening--whether, when and how?

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049977

Simple non-invasive method to obtain DNA for gene analysis

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7525964

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nearly 80% of cystic fibrosis heterozygotes and 64% of couples at risk may be detected through a unique screening of four mutations by ASO reverse dot blot

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7525964

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prenatal screening for cystic fibrosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7525964

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.31.7.545

1 reference

12 October 2017

1 reference

12 October 2017

1 reference