Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA (Q84120076)

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scientific article published on 12 May 2012

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English	Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA	scientific article published on 12 May 2012

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22581207%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22581207%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

cystic fibrosis

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Lenka Dvořáková

8

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1 February 2020

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Veronika Krulišová

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1 February 2020

Miroslava Balaščaková

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1 February 2020

Veronika Skalická

3

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1 February 2020

Tereza Piskáčková

4

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1 February 2020

Andrea Holubová

5

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1 February 2020

Jana Paděrová

6

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1 February 2020

Petra Křenková

7

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1 February 2020

Dana Zemková

9

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1 February 2020

Petr Kračmar

10

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1 February 2020

Blanka Chovancová

11

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1 February 2020

Věra Vávrová

12

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1 February 2020

Alexandra Stambergová

13

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1 February 2020

Felix Votava

14

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1 February 2020

Milan Macek

15

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1 February 2020

publication date

12 May 2012

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1 February 2020

European Journal of Pediatrics

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22581207%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

171

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1 February 2020

8

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1 February 2020

1223-1229

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Europe PubMed Central

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1 February 2020

Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European populatio

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn screening for cystic fibrosis: a lesson in public health disparities

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Time trends in birth incidence of cystic fibrosis in two European areas: data from newborn screening programs

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14years of newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association between initial disease presentation, lung disease outcomes, and survival in patients with cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

European best practice guidelines for cystic fibrosis neonatal screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Blood concentrations of pancreatitis associated protein in neonates: relevance to neonatal screening for cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening for cystic fibrosis, using immunoreactive trypsin assay in dried blood spots

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The incidence and genetics of cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22581207

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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