Cystic Fibrosis Newborn Screening in Portugal: PAP Value in Populations with Stringent Rules for Genetic Studies (Q57761924)

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22 October 2020

Verónica Felício

12

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22 October 2020

Margarida Duarte Amaral

14

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22 October 2020

author name string

Ana Marcão

1

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22 October 2020

Celeste Barreto

2

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22 October 2020

Luísa Pereira

3

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22 October 2020

José Cavaco

5

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22 October 2020

Ana Casimiro

6

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22 October 2020

Telma Barbosa

9

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22 October 2020

Cristina Freitas

10

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22 October 2020

Sidónia Nunes

11

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22 October 2020

Lurdes Lopes

13

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22 October 2020

Laura Vilarinho

15

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22 October 2020

Luísa Guedes Vaz

4

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22 October 2020

Teresa Reis Silva

8

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International journal of neonatal screening

22 October 2020

publication date

29 June 2018

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published in

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22 October 2020

volume

4

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22 October 2020

issue

3

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22 October 2020

page(s)

22

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Creative Commons Attribution 4.0 International

22 October 2020

copyright license

start time

29 June 2018

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)

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12 December 2020

Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene

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12 December 2020

Demonstration That CFTR Is a Chloride Channel by Alteration of Its Anion Selectivity

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12 December 2020

The Cystic Fibrosis Transmembrane Conductance Regulator

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12 December 2020

Complete map of cystic fibrosis mutation DF508 frequencies in Western Europe and correlation between mutation frequencies and incidence of disease

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Cystic fibrosis: genotypic and phenotypic variations

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12 December 2020

Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient

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12 December 2020

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

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

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Newborn screening methods for cystic fibrosis

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12 December 2020

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

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12 December 2020

Evidence on improved outcomes with early diagnosis of cystic fibrosis through neonatal screening: enough is enough!

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Four years of expanded newborn screening in Portugal with tandem mass spectrometry

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12 December 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

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12 December 2020

Modifier genes in Mendelian disorders: the example of cystic fibrosis

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12 December 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

1 reference

12 December 2020

The influence of sex, gestational age, birth weight, blood transfusion, and timing of the heel prick on the pancreatitis-associated protein concentration in newborn screening for cystic fibrosis

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12 December 2020

Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.

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12 December 2020

Comparison of different IRT-PAP protocols to screen newborns for cystic fibrosis in three central European populations

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12 December 2020

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

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12 December 2020

New challenges in the diagnosis and management of cystic fibrosis

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12 December 2020

Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas

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12 December 2020

Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years

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12 December 2020

Cystic fibrosis - characterization of the adult population in Portugal

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12 December 2020

Progress in therapies for cystic fibrosis

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12 December 2020

Newborn screening for cystic fibrosis.

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12 December 2020

Toward quality improvement in cystic fibrosis newborn screening: Progress and continuing challenges

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12 December 2020

A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening

1 reference

12 December 2020

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

1 reference

12 December 2020

An Observational Study of Outcomes and Tolerances in Patients with Cystic Fibrosis Initiated on Lumacaftor/Ivacaftor.

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12 December 2020

Identifiers

DOI

10.3390/IJNS4030022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:33072945%20AND%20SRC:MED&resulttype=core&format=json

22 October 2020

1 reference

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22 October 2020

PubMed publication ID

33072945

1 reference