(Q73405270)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752573%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752573%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

1 reference

Jan Traeger-Synodinos

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752573%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

Maria Tzetis

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752573%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

E Kanavakis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752573%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

A Efthymiadou

2

1 reference

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3 November 2019

S Strofalis

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752573%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

S Doudounakis

4

1 reference

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3 November 2019

publication date

1 May 2003

1 reference

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3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752573%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752573%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

5

1 reference

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3 November 2019

page(s)

400-409

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752573%20AND%20SRC:MED&resulttype=core&format=json

Active cascade testing for carriers of cystic fibrosis gene

3 November 2019

cites work

1 reference

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Identification of the cystic fibrosis gene: genetic analysis

21 January 2018

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7 January 2021

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

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7 January 2021

Identification of the cystic fibrosis gene: chromosome walking and jumping

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7 January 2021

Genotype and phenotype in cystic fibrosis

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7 January 2021

Cystic fibrosis: genotypic and phenotypic variations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.

1 reference

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7 January 2021

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://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

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7 January 2021

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

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7 January 2021

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations

1 reference

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7 January 2021

Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia

1 reference

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7 January 2021

Multiplex PCR amplification of three microsatellites within the CFTR gene

1 reference

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7 January 2021

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

1 reference

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7 January 2021

Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

PRENATAL DIAGNOSIS OF CYSTIC FIBROSIS IN A HIGHLY HETEROGENEOUS POPULATION

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Mutation analysis in 600 French cystic fibrosis patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphicCFTR DNA markers

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Fetal echogenic bowel: parameters to be considered in differential diagnosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

Fetal echogenic bowel: a complex scenario

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00067.X

7 January 2021

10.1034/J.1399-0004.2003.00067.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752573%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference