(Q37599493)

21 August 2017

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11. (English)

1 reference

21 August 2017

1 reference

George A Tanteles

3

0 references

Panayiotis Yiallouros

object named as

Panayiotis K Yiallouros

2

0 references

Carolina Sismani

object named as

Carolina Sismani

8

0 references

author name string

Vassos Neocleous

1

1 reference

21 August 2017

Constantina Costi

4

1 reference

21 August 2017

Maria Moutafi

5

1 reference

21 August 2017

Phivos Ioannou

6

1 reference

21 August 2017

Philippos C Patsalis

7

1 reference

21 August 2017

Leonidas A Phylactou

9

1 reference

21 August 2017

6 February 2014

1 reference

21 August 2017

Case reports in genetics

1 reference

21 August 2017

2014

1 reference

21 August 2017

613863

1 reference

Creative Commons Attribution 3.0 Unported

21 August 2017

start time

1 January 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

Cystic fibrosis: a mucosal immunodeficiency syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

The impact of cystic fibrosis on neonatal intestinal obstruction: the need for prenatal/neonatal screening

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

Gene transfer for cystic fibrosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

Identification of the cystic fibrosis gene: chromosome walking and jumping

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

Cystic fibrosis: molecular biology and therapeutic implications

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

A large deletion in the CFTR gene in CBAVD.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3932727

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2014%2F613863

40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the Cystic Fibrosis Transmembrane Conductance Regulator gene

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24649380

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Detection of exon deletions within an entire gene (CFTR) by relative quantification on the LightCycler

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24649380

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1155/2014/613863

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24649380

1 reference