(Q33597777)

28 July 2017

title

Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families (English)

1 reference

28 July 2017

0 references

1 reference

linkage disequilibrium

1 reference

Xavier Estivill i Pallejà

inferred from title

author

7

1 reference

28 July 2017

Casals T

1

1 reference

28 July 2017

Nunes V

2

1 reference

28 July 2017

Lázaro C

3

1 reference

28 July 2017

Giménez FJ

4

1 reference

28 July 2017

Girbau E

5

1 reference

28 July 2017

Volpini V

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 November 1991

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

28

1 reference

28 July 2017

issue

11

1 reference

28 July 2017

page(s)

771-776

1 reference

Use of linkage disequilibrium data in prenatal diagnosis of cystic fibrosis

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=1017113

Linkage disequilibrium, cystic fibrosis, and genetic counseling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

Recombinations between IRP and cystic fibrosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

Patterns of polymorphism and linkage disequilibrium for cystic fibrosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

Identification of the cystic fibrosis gene: chromosome walking and jumping

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

Identification of the cystic fibrosis gene: genetic analysis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between J3.11 (D7S8) and IRP

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

Delta F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Spanish families.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

Distribution of the delta F508 mutation in 194 Spanish cystic fibrosis families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

ScrfI restriction fragment length polymorphism at the D7S23 locus (probe pKM. 19), closely linked to cystic fibrosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

A frame-shift mutation in the cystic fibrosis gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

Analysis of delta F508 does not confirm a previously reported recombination in a cystic fibrosis family

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

Mutation Analysis in Cystic Fibrosis

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017113

ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE

30 October 2018

1 reference

12 December 2020

DNA sequence analysis of the KM19 locus linked to cystic fibrosis. Design of new oligonucleotides to remove non-specific PCR products

1 reference

12 December 2020

Genetic counselling for cystic fibrosis based upon mutation/haplotype analysis

1 reference

12 December 2020

First-trimester prenatal diagnosis of cystic fibrosis by direct gene probing

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.28.11.771

1 reference

28 July 2017

1 reference

28 July 2017

1 reference