Large genomic rearrangements in the CFTR gene contribute to CBAVD. (Q42115796)

16 October 2017

Large genomic rearrangements in the CFTR gene contribute to CBAVD. (English)

1 reference

16 October 2017

Magali Taulan

1

0 references

Christophe Beroud

object named as

Christophe Beroud

6

0 references

Mireille Claustres

8

object named as

Mireille Claustres

1 reference

16 October 2017

Anne Girardet

2

1 reference

16 October 2017

Caroline Guittard

3

1 reference

16 October 2017

Jean-Pierre Altieri

4

1 reference

16 October 2017

Carine Templin

5

1 reference

16 October 2017

Marie des Georges

7

1 reference

16 October 2017

20 April 2007

1 reference

16 October 2017

1 reference

16 October 2017

8

1 reference

16 October 2017

22

1 reference

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

Molecular pathology of the CFTR locus in male infertility

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

Genotype-phenotype relationships in cystic fibrosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

Genotype and phenotype in cystic fibrosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

A large deletion in the CFTR gene in CBAVD.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

UMD (Universal Mutation Database): 2005 update

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

Frequency of large CFTR gene rearrangements in Italian CF patients.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876208

Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion

17 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-8-22

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-8-22

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

21 January 2018

1 reference

12 December 2020

Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19)

1 reference

12 December 2020

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

1 reference

12 December 2020

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

1 reference

12 December 2020

40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene

1 reference

12 December 2020

Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia

1 reference

12 December 2020

Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-8-22

1 reference

Dimensions Publication ID

16 October 2017

0 references

1 reference

16 October 2017

PubMed publication ID

17448246

1 reference