(Q36433315)

14 August 2017

Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonates (English)

1 reference

14 August 2017

0 references

Valentina Paracchini

1

1 reference

14 August 2017

Manuela Seia

2

1 reference

14 August 2017

Sara Raimondi

3

1 reference

14 August 2017

Lucy Costantino

4

1 reference

14 August 2017

Patrizia Capasso

5

1 reference

14 August 2017

Luigi Porcaro

6

1 reference

14 August 2017

Carla Colombo

7

1 reference

14 August 2017

Domenico A Coviello

8

1 reference

14 August 2017

Tiziana Mariani

9

1 reference

14 August 2017

Emanuela Manzoni

10

1 reference

14 August 2017

Monica Sangiovanni

11

1 reference

14 August 2017

Carlo Corbetta

12

1 reference

14 August 2017

4 November 2011

1 reference

Journal of Inherited Metabolic Disorders Reports

14 August 2017

1 reference

14 August 2017

4

1 reference

14 August 2017

17-23

1 reference

Cystic fibrosis lung disease starts in the small airways: can we treat it more effectively?

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509858

Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509858

Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509858

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509858

Implications of carrier identification in newborn screening for cystic fibrosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509858

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509858

Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509858

Dried-blood spot screening for cystic fibrosis in the newborn

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509858

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509858

Sweat testing infants detected by cystic fibrosis newborn screening

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509858

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509858

European best practice guidelines for cystic fibrosis neonatal screening

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3509858

Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity

4 December 2018

1 reference

12 December 2020

Blood immunoreactive trypsinogen concentrations are genetically determined in healthy and cystic fibrosis newborns

1 reference

12 December 2020

Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis

1 reference

12 December 2020

Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers

1 reference

12 December 2020

Cystic fibrosis mutations with widely variable phenotype: the D1152H example

1 reference

12 December 2020

A survey of newborn screening for cystic fibrosis in Europe

1 reference

12 December 2020

Negative sweat test in hypertrypsinaemic infants with cystic fibrosis carrying rare CFTR mutations

1 reference

12 December 2020

Cystic fibrosis screening in neonates--measurement of immunoreactive trypsin and direct genotype analysis for delta F508 mutation

1 reference

12 December 2020

Identifiers

DOI

10.1007/8904_2011_55

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

23430892

1 reference