Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene (Q41659539)

6 October 2017

title

Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene (English)

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intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

6 October 2017

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transmembrane protein

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Katherine Keenan

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Carlo Castellani

series ordinal

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Lisa J Strug

series ordinal

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

language of work or name

English

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publication date

18 June 2015

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6 October 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

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13 June 2020

issue

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

333-340

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26087176%20AND%20SRC:MED&resulttype=core&format=json

A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon

13 June 2020

cites work

1 reference

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Meconium ileus in patients with cystic fibrosis is not a risk factor for clinical deterioration and survival: the Israeli Multicenter Study

21 January 2018

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The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

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

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Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis

21 January 2018

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Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2015.79

Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas

21 January 2018

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Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

21 January 2018

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Prediction of acute pancreatitis risk based on PIP score in children with cystic fibrosis.

21 January 2018

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Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

21 January 2018

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Understanding the population structure of North American patients with cystic fibrosis

21 January 2018

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Spirometric reference values from a sample of the general U.S. population

21 January 2018

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Pulmonary function between 6 and 18 years of age.

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2015.79

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function

21 January 2018

1 reference

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Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.79

G551D and G1349D, two CF-associated mutations in the signature sequences of CFTR, exhibit distinct gating defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.79

Direct interaction of a small-molecule modulator with G551D-CFTR, a cystic fibrosis-causing mutation associated with severe disease

21 January 2018

1 reference

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Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents

21 January 2018

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Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities

21 January 2018

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https://api.crossref.org/works/10.1038%2FGIM.2015.79

Genetic modifiers of nutritional status in cystic fibrosis

21 January 2018

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Risk factors for onset of persistent respiratory symptoms in children with cystic fibrosis

21 January 2018

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Lung function decline from adolescence to young adulthood in cystic fibrosis

21 January 2018

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Methamphetamine and other substance use during pregnancy: preliminary estimates from the Infant Development, Environment, and Lifestyle (IDEAL) study

21 January 2018

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New meconium biomarkers of prenatal methamphetamine exposure increase identification of affected neonates.

21 January 2018

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Intestinal CFTR expression alleviates meconium ileus in cystic fibrosis pigs

21 January 2018

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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.

21 January 2018

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Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.

21 January 2018

1 reference

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Disease phenotype of a ferret CFTR-knockout model of cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.79

GENETIC DIFFERENCES BETWEEN CYSTIC FIBROSIS WITH AND WITHOUT MECONIUM ILEUS

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.79

CFTR Cl− channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.79

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

21 January 2018

1 reference

12 December 2020

Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease

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12 December 2020

Correlation between genotype and phenotype in patients with cystic fibrosis

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12 December 2020

Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population

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12 December 2020

Genetic determination of exocrine pancreatic function in cystic fibrosis

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12 December 2020

Growth assessment of paediatric patients with CF comparing different auxologic indicators: A multicentre Italian study

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12 December 2020

Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus

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12 December 2020

Genetic comparisons of patients with cystic fibrosis with or without meconium ileus. Clinical Centers of the French CF Registry

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12 December 2020

Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis

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12 December 2020

Association between genotype and pulmonary phenotype in cystic fibrosis patients with severe mutations

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12 December 2020