(Q33678661)

28 July 2017

title

CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test (English)

1 reference

28 July 2017

Castellani C

1

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28 July 2017

Bonizzato A

series ordinal

2

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28 July 2017

Mastella G

series ordinal

3

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28 July 2017

language of work or name

English

0 references

publication date

1 April 1997

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

4

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28 July 2017

page(s)

297-301

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Congenital absence of the vas deferens: a mild form of cystic fibrosis

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050915

CFTR gene variant IVS8-5T in disseminated bronchiectasis.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050915

Rapid nonradioactive detection of the major cystic fibrosis mutation.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050915

Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050915

Transient neonatal hypertrypsinaemia as test for delta F508 heterozygosity.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050915

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050915

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050915

Dried-blood spot screening for cystic fibrosis in the newborn

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050915

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050915

Complexity in a monogenic disease

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050915

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050915

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

30 October 2018

1 reference

12 December 2020

An evaluation of an enzyme immunoassay method for immunoreactive trypsin in dried blood spots

1 reference

12 December 2020

Abnormal frequency of delta F508 mutation in neonatal transitory hypertrypsinaemia

1 reference

12 December 2020

Development of a screening system for cystic fibrosis: meconium or blood spot trypsin assay or both?

1 reference

12 December 2020

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

12 December 2020

Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations

1 reference

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

CFTR haplotype backgrounds on normal and mutant CFTR genes

1 reference

12 December 2020

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

12 December 2020

Identifiers

DOI

10.1136/JMG.34.4.297

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28 July 2017

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28 July 2017

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