(Q42000983)

English

Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure

scientific article published on June 1996

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Molecular epidemiology of cystic fibrosis mutations and haplotypes in southern Italy evaluated with an improved semiautomated robotic procedure (English)

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

cystic fibrosis

0 references

1 reference

based on heuristic

inferred from title

author name string

Castaldo G

1

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Rippa E

2

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Sebastio G

3

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Raia V

4

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Ercolini P

5

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

de Ritis G

6

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Salvatore D

7

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Salvatore F

8

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

language of work or name

0 references

publication date

1 June 1996

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

33

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

6

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

475-479

1 reference

Europe PubMed Central

PMC publication ID

15 October 2017

Clinical features of cystic fibrosis patients with rare genotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

Mutation analysis in 600 French cystic fibrosis patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

Identification of the cystic fibrosis gene: chromosome walking and jumping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

Identification of the cystic fibrosis gene: genetic analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

Rapid detection of 1717-1G----A mutation in CFTR gene by PCR-mediated site-directed mutagenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

A cystic fibrosis patient homozygous for the nonsense mutation R553X

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

Mild pulmonary disease in a cystic fibrosis child homozygous for R553X.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

5 June 2018

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050633

18 August 2018

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://pubmed.ncbi.nlm.nih.gov/8782047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism

1 reference

https://pubmed.ncbi.nlm.nih.gov/8782047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area

1 reference

https://pubmed.ncbi.nlm.nih.gov/8782047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/8782047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8782047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/8782047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G

1 reference

https://pubmed.ncbi.nlm.nih.gov/8782047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/8782047

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.6.475

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

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q42000983&oldid=1931646100"