(Q33682984)

28 July 2017

title

The Irish cystic fibrosis database (English)

1 reference

28 July 2017

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Cashman SM

1

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28 July 2017

Patino A

2

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28 July 2017

Delgado MG

3

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28 July 2017

Byrne L

4

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28 July 2017

Denham B

5

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28 July 2017

De Arce M

6

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28 July 2017

language of work or name

English

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publication date

1 December 1995

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

32

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28 July 2017

issue

12

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28 July 2017

page(s)

972-975

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Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

Detection and localization of single base changes by denaturing gradient gel electrophoresis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

Linkage disequilibrium, cystic fibrosis, and genetic counseling

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

Frequency of deletion 508 among Irish cystic fibrosis patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

A mutation in exon 7 of the CFTR gene is common in the western part of France

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

Genetic determination of exocrine pancreatic function in cystic fibrosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

DNA sequencing with chain-terminating inhibitors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

Identical Intragenic MicrosateUite Haplotype Found in Cystic Fibrosis Chromosomes Bearing Mutation G551D in Irish, English, Scottish, Breton and Czech Patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051780

The prevalence of coeliac disease and cystic fibrosis in Ireland, Scotland, England and Wales

30 October 2018

1 reference

12 December 2020

Fluorescent multiplex microsatellites used to identify haplotype associations with 15 CFTR mutations in 124 Northern Irish CF families

1 reference

12 December 2020

Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism

1 reference

12 December 2020

Cystic fibrosis in adolescents and adults

1 reference

12 December 2020

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

1 reference

12 December 2020

The changing epidemiology of cystic fibrosis

1 reference

12 December 2020

Detection of over 98% cystic fibrosis mutations in a Celtic population

1 reference

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.12.972

1 reference

28 July 2017

1 reference

28 July 2017

1 reference