(Q43146329)

14 November 2017

0 references

Cystic fibrosis genotypes and views on screening are both heterogeneous and population related (English)

1 reference

14 November 2017

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1

Scriver CR

1 reference

14 November 2017

Fujiwara TM

2

1 reference

14 November 2017

language of work or name

English

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publication date

1 November 1992

1 reference

American Journal of Human Genetics

14 November 2017

1 reference

14 November 2017

51

1 reference

14 November 2017

5

1 reference

14 November 2017

943-950

1 reference

The cystic fibrosis gene: medical and social implications for heterozygote detection

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Chloride impermeability in cystic fibrosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Beta-thalassemia disease prevention: genetic medicine applied.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

A test of the heterozygote-advantage hypothesis in cystic fibrosis carriers

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

No evidence for genetic heterogeneity in cystic fibrosis.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Hypothesis: a selective advantage for cystic fibrosis heterozygotes

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Tracing the mutations in cystic fibrosis by means of closely linked DNA markers

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Identification of the cystic fibrosis gene: chromosome walking and jumping

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Why is the cystic fibrosis gene so frequent?

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Identification of the cystic fibrosis gene: genetic analysis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

A comparative study of the psychosocial assets of adults with cystic fibrosis and their healthy peers

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

The American Society of Human Genetics statement on cystic fibrosis screening

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Screening for cystic fibrosis; public policy and personal choices

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Cystic fibrosis screening and community genetics

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Cystic fibrosis carrier screening by DNA analysis: a pilot study of attitudes among participants

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Public and private views of identity: acceptance of the 1990 Ross Award.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Benign missense variations in the cystic fibrosis gene

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Screening for carriers of cystic fibrosis through primary health care services

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

What do young people think about screening for cystic fibrosis?

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Attitudes toward abortion among parents of children with cystic fibrosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

General population screening for cystic fibrosis is premature

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Demonstration That CFTR Is a Chloride Channel by Alteration of Its Anion Selectivity

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Defective acidification of intracellular organelles in cystic fibrosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Attitudes towards prenatal diagnosis and carrier screening for cystic fibrosis among the parents of patients in a paediatric cystic fibrosis clinic.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization: a technology for carrier screening

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Principles and practicalities of carrier screening: attitudes of recent parents

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Effects of genetic screening on perceptions of health: a pilot study

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Discrimination as a consequence of genetic testing

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Eugenics and genetic discrimination

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Genetic determination of exocrine pancreatic function in cystic fibrosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Cystic fibrosis: molecular biology and therapeutic implications

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Cystic fibrosis transmembrane conductance regulator: a chloride channel with novel regulation

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Regulation of plasma membrane recycling by CFTR.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

In vivo transfer of the human cystic fibrosis transmembrane conductance regulator gene to the airway epithelium

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Lung involvement, the delta F508 mutation and DNA haplotype analysis in cystic fibrosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Attitudes toward genetic testing of Amish, Mennonite, and Hutterite families with cystic fibrosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Newborn screening for cystic fibrosis is complicated by age-related decline in immunoreactive trypsinogen levels

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682854

Abnormal Ion Permeation Through Cystic Fibrosis Respiratory Epithelium

1 December 2018

1 reference

12 December 2020

No CFTR: are CF symptoms milder?

1 reference

12 December 2020

Carrier screening for cystic fibrosis

1 reference

12 December 2020

Community attitudes to cystic fibrosis carrier screening

1 reference

12 December 2020

Carrier screening for cystic fibrosis: a pilot study of the attitudes of pregnant women

1 reference

12 December 2020

Aerosol α1 -antitrypsin treatment for cystic fibrosis

1 reference

12 December 2020

In vivo cell-specific expression of the cystic fibrosis transmembrane conductance regulator

1 reference

12 December 2020

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

1 reference

12 December 2020

A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in Montreal

1 reference

12 December 2020

Prenatal screening for cystic fibrosis

1 reference

12 December 2020

A preliminary study of aerosolized recombinant human deoxyribonuclease I in the treatment of cystic fibrosis

1 reference

12 December 2020

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

1 reference

12 December 2020

Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis

1 reference

12 December 2020

Activation by extracellular nucleotides of chloride secretion in the airway epithelia of patients with cystic fibrosis

1 reference

12 December 2020

Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations

1 reference

12 December 2020

What drives neonatal screening programs?

1 reference

12 December 2020

Cystic fibrosis screening and community genetics

1 reference

12 December 2020

Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion

1 reference

12 December 2020

Cystic fibrosis and congenital absence of the vas deferens

1 reference

12 December 2020

A pilot study of aerosolized amiloride for the treatment of lung disease in cystic fibrosis

1 reference

12 December 2020

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease

1 reference

12 December 2020

Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program

1 reference

12 December 2020

Carrier screening in CF

1 reference

12 December 2020

Identifiers

1 reference

14 November 2017

PubMed publication ID

1384327

1 reference