(Q42048030)

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Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene (English)

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

cystic fibrosis

0 references

transmembrane protein

0 references

author name string

Genevieve Pont-Kingdon

1

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Mohamed Jama

2

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Christine Miller

3

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Alison Millson

4

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Elaine Lyon

5

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

publication date

1 August 2004

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

The Journal of Molecular Diagnostics

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

6

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

3

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

264-270

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

Direct molecular haplotyping of long-range genomic DNA with M1-PCR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

Molecular haplotyping at high throughput.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

Direct micro-haplotyping by multiple double PCR amplifications of specific alleles (MD-PASA).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

The structure of haplotype blocks in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

Skipping of exon 9 of human CFTR in YAC-transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

The accuracy of statistical methods for estimation of haplotype frequencies: an example from the CD4 locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

The use of single-nucleotide polymorphism maps in pharmacogenomics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

Conversion of diploidy to haploidy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

A rapid method of haplotyping HFE mutations and linkage disequilibrium in a Caucasoid population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

https://api.crossref.org/works/10.1016%2FS1525-1578%2810%2960520-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

Molecular haplotyping of genetic markers 10 kb apart by allele-specific long-range PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

Effective amplification of long targets from cloned inserts and human genomic DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

Direct haplotyping of chromosomal segments from multiple heterozygotes via allele-specific PCR amplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

5 June 2018

A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

17 August 2018

Molecular haplotype determination using allele-specific PCR and pyrosequencing technology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

17 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

17 August 2018

Direct haplotyping of kilobase-size DNA using carbon nanotube probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

17 August 2018

Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

17 August 2018

Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

17 August 2018

Rapid characterization of the variable length polythymidine tract in the cystic fibrosis (CFTR) gene: association of the 5T allele with selected CFTR mutations and its incidence in atypical sinopulmonary disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867631

17 August 2018

Rapid haplotyping of mutations in the Duffy gene using the polymerase chain reaction and sequence-specific primers

1 reference

https://pubmed.ncbi.nlm.nih.gov/15269305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High frequency of the R117H cystic fibrosis mutation in patients with congenital absence of the vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/15269305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/15269305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lung disease associated with the IVS8 5T allele of the CFTR gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15269305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

R117H and IVS8-5T cystic fibrosis mutation detection by restriction enzyme digestion

1 reference

https://pubmed.ncbi.nlm.nih.gov/15269305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular haplotyping of genomic DNA for multiple single-nucleotide polymorphisms located kilobases apart using long-range polymerase chain reaction and intramolecular ligation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15269305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Simultaneous cycle sequencing assessment of (TG)m and Tn tract length in CFTR gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15269305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

https://pubmed.ncbi.nlm.nih.gov/15269305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens

1 reference

https://pubmed.ncbi.nlm.nih.gov/15269305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/15269305

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atomic structure of the quasicrystal Al72Ni20Co8

1 reference

https://api.crossref.org/works/10.1016%2FS1525-1578%2810%2960520-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1525-1578(10)60520-X

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

ResearchGate publication ID

0 references

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